922:
1616:, where they discuss both the personal and family history of cancer. The medical professional can then assess the likelihood of the patient having the mutation and can guide them through the process that is genetic screening. It is important that this consultation takes place because it ensures that the person gives informed consent to engage in genetic testing, is aware and understands the steps, benefits and limitations of the procedure and is more knowledgeable of the consequences of hearing test results. The test can be done by using
786:
212:
204:
1097:, which is an enzyme involved in DNA replication. There are many polymerases, but pol η is the enzyme that replicates UV light-damaged DNA. Mutations in this gene will produce a faulty pol η enzyme that cannot replicate DNA with UV light damage. Individuals with mutations of this gene have a subset of XP; XP-variant disease.
1631:
Direct to consumer testing can be obtained without a medical professional but is not recommended as the consumer loses the opportunity to discuss their decision with an educated professional. According to the
National Library of Medicine in the U.S. genetic testing in America costs in the price range
1012:
is a rare, autosomal dominant genetic condition that predisposes individuals to benign and malignant tumors. The most common tumors in Von Hippel–Lindau disease are central nervous system and retinal hemangioblastomas, clear cell renal carcinomas, pheochromocytomas, pancreatic neuroendocrine tumours,
1700:
to examine if there is any change in the cells lining the intestinal wall, regular check-ups are associated with an additional 7 years onto the life expectancy on average for a person with Lynch's syndrome. This is because early detection means the correct preventive actions and surgery can be taken
1592:
that are passed through generations. People who test positive for having a genetic mutation are not necessarily condemned to develop the cancer linked with the mutation, however they possess an increased risk of developing cancer in comparison to the general population. It is advised that people get
139:
Hereditary cancer syndromes underlie 5 to 10% of all cancers and there are over 50 identifiable hereditary forms of cancer. Scientific understanding of cancer susceptibility syndromes is actively expanding: additional syndromes are being found, the underlying biology is becoming clearer, and genetic
1730:
have a BRCA mutation, this is a huge contrast from the general population in the United States where 1 in 400 people are affected. Ashkenazi Jews are at high risk of developing hereditary breast and ovarian cancer and it is recommend that they undergo both genetic testing to see if they have a
2124:
1721:
Often genetic mutations are more common in certain ethnic groups, this is because a race can track their ancestors back to one geographic location, the mutated genes are then passed from ancestors down through generations which is why some ethnicities are more susceptible to mutations, thus
4773:
Robson, Mark E.; Bradbury, Angela R.; Arun, Banu; Domchek, Susan M.; Ford, James M.; Hampel, Heather L.; Lipkin, Stephen M.; Syngal, Sapna; Wollins, Dana S. (2015-11-01). "American
Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility".
1605:
1640:
Genetic testing is important as if a test comes out positive they are more aware of their own personal health and the health of immediate family members. With the help and advice from a medical professional they can take steps to reduce their elevated risk of cancer development through:
247:, where the first hit of the gene is the inherited mutation and the second hit occurs later in life. As only one allele needs to be mutated (as compared to both in so-called "sporadic cancers"), the individual has a higher chance of developing the cancer than the general population.
789:
Although the majority of
Fanconi anemia cases are inherited in an autosomal recessive manner, those caused by FANCB are inherited through x-linked recessive inheritance. This example pedigree chart shows how inheritance of X-linked Fanconi anemia might occur through several
215:
Less commonly, cancer syndromes are inherited in an autosomal recessive manner. In this example pedigree chart the only person that will have an increased risk of cancer is the homozygous recessive male in the second generation; although there are many carriers of the
1113:
is present in a DNA repair gene, the repair gene will either not be expressed or expressed in an altered form. Then the repair function will likely be deficient, and, as a consequence, DNA damages will tend to accumulate. Such DNA damages can cause errors during
1044:
and non-melanoma skin cancers. Also, sun exposed areas of the tongue, lips and eyes have an increased risk of becoming cancerous. Xeroderma pigmentosum may be associated with other internal cancers and benign tumors. In addition to cancer, some
967:
and skeletal abnormalities. Estimates of nevoid basal cell carcinoma syndrome prevalence varies, but is approximately 1 in 60000. The presence of basal cell carcinoma is much higher in white than black individuals; 80% and 38%, respectively.
875:. Individuals with Li-Fraumeni syndrome often have multiple independent primary cancers. The reason for the large clinical spectrum of this disorder may be due to other gene mutations that modify the disease. The protein produced by the
38:
262:) then they have a 25% chance of producing a homozygous recessive child (has predisposition), 50% chance of producing a heterozygous child (carrier of the faulty gene) and 25% chance of produced a child with two normal alleles.
1628:. This material is then sent to a specialized genetics lab where technicians will examine it, the test results are sent back to the health provider who requested the analysis and results are discussed with the patient.
972:
are found in approximately 75% of individuals with the disease and often occur early in life. The most common skeletal abnormalities occur in the head and face, but other areas are often affected such as the
1013:
pancreatic cysts, endolymphatic sac tumors and epididymal papillary cystadenomas. Von Hippel–Lindau disease results from a mutation in the von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.
1612:
The process of genetic screening is a simple, non-invasive procedure. However, before genes are tested for mutations the patient usually must go to a health care provider and go through a one-on-one
1722:
increasing their chances of developing cancer . As mentioned above, this can be useful as it can help health professionals assess a patient's risk of having a mutation before they undergo testing.
891:. Defective p53 may not be able to properly perform these processes, which may be the reason for tumor formation. Because only 60-80% of individuals with the disorder have detectable mutations in
4325:
Anbari KK, Ierardi-Curto LA, Silber JS, Asada N, Spinner N, Zackai EH, Belasco J, Morrissette JD, Dormans JP (2000). "Two primary osteosarcomas in a patient with
Rothmund-Thomson syndrome".
231:
manner. In these cases, only one faulty allele has to be present for an individual to have a predisposition to cancer. Individuals with one normal allele and one faulty allele are known as
2784:
Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C (2004).
3341:"Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways"
1287:
colorectal, endometrial, ovariain, gastrointestinal tract (stomach and small intestine, pancreas, biliary tract), urinary tract, brain (glioblastomas), and skin (keratoacanthomas and
254:
trait. Both alleles of a gene must be mutated in autosomal recessive disorders for an individual to have a predisposition to cancer. A person with two recessive alleles is known as
824:
PGL-1 is associated with SDHD mutation, and most PGL-1 individuals with paraganglioma have affected fathers rather than affected mothers. PGL1 and PGL2 are autosomal dominant with
707:. Genetic mutations account for approximately 7% and 14% of breast and ovarian cancer, respectively, and BRCA1 and BRCA2 account for 80% of these cases. BRCA1 and BRCA2 are both
4817:
140:
testing is improving detection, treatment, and prevention of cancer syndromes. Given the prevalence of breast and colon cancer, the most widely recognized syndromes include
3576:
Lancaster JM, Powell CB, Chen LM, Richardson DL (2015). "Society of
Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions".
711:
implicated in maintaining and repairing DNA, which in turn leads to genome instability. Mutations in these genes allow further damage to DNA, which can lead to cancer.
895:, other mutations in the p53 pathway may be involved in Li-Fraumeni syndrome. Individuals with LFS need lifelong intensive screening for early cancer detection. See
3975:
Bartkova J, Tommiska J, Oplustilova L, Aaltonen K, Tamminen A, Heikkinen T, Mistrik M, Aittomäki K, Blomqvist C, Heikkilä P, Lukas J, Nevanlinna H, Bartek J (2008).
782:(MSI). Mutated microsatellites are often found in genes involved in tumor initiation and progression, and MSI can enhance the survival of cells, leading to cancer.
4615:
Foulkes, William D.; Knoppers, Bartha Maria; Turnbull, Clare (January 2016). "Population genetic testing for cancer susceptibility: founder mutations to genomes".
258:. Both parents must have at least one faulty allele in order for a child to be homozygous recessive. If both parents have one mutant allele and one normal allele (
828:. PGL-4 is associated with SDHB mutation and is associated with a higher risk of pheochromocytoma, as well as renal cell cancer and non-medullary thyroid cancer.
1665:
298:
3936:"After double-strand break induction by UV-A, homologous recombination and nonhomologous end joining cooperate at the same DSB if both systems are available"
851:, which greatly increases the risk of many cancers and is also highly associated with early onset of these cancers. Cancers linked to this disorder include;
5079:
4891:
Newton, K.; Green, K.; Lalloo, F.; Evans, D. G.; Hill, J. (January 2015). "Colonoscopy screening compliance and outcomes in patients with Lynch syndrome".
1713:. Aspirin is hugely beneficial in lowering cancer prevalence; however, it must be taken regularly over at least a five-year period to have any effect.
1118:
leading to mutations, some of which may give rise to cancer. Germ-line DNA repair mutations that increase the risk of cancer are listed in the Table.
1693:
1250:
762:. Hereditary non-polyposis colon cancer is also associated with an early onset of colorectal cancer. MMR genes are involved in repairing DNA when the
649:
306:
141:
124:
1624:
of the patient, this includes; blood (which is the most common), saliva, amniotic fluid and even cells from the interior of the mouth gotten from a
266:
1597:
includes: Multiple family members with cancer, someone in their family that got cancer at a particularly young age or by being part of a certain
408:
Although cancer syndromes exhibit an increased risk of cancer, the risk varies. For some of these diseases, cancer is not their primary feature.
3170:
1434:
1429:
3977:"Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene"
3153:
2883:
2107:
719:
145:
128:
4563:
Opletalova K, Bourillon A, Yang W, Pouvelle C, Armier J, Despras E, Ludovic M, Mateus C, Robert C, Kannouche P, Soufir N, Sarasin A (2014).
945:
334:
4565:"Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations"
795:
274:
4844:"Decision analysis--effects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCA1 or BRCA2 mutations"
467:
are solid tumors commonly linked to FA. Congenital abnormalities include: skeletal anomalies (especially those affecting the hands),
1768:
1726:
has a prevalence of 1 in 200,000 live births in the U.S., but it affects individuals in Japan in 1 in 20,000-40,000 cases. 1 in 40
3613:"Cellular and molecular consequences of defective Fanconi anemia proteins in replication-coupled DNA repair: mechanistic insights"
1093:
enzymes that repair UV light-damaged DNA and faulty proteins will allow the buildup of mutations caused by UV light. Pol η is a
1040:. The risk of skin cancer is more than 10000 times that of normal individuals and includes many types of skin cancer, including
270:
929:
3023:
Manfredi M, Vescovi P, Bonanini M, Porter S (March 2004). "Nevoid basal cell carcinoma syndrome: a review of the literature".
5118:
1888:"Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications"
571:
544:
294:
41:
3109:
Richard, S; Gardie, B; Couvé, S; Gad, S (May 30, 2012). "Von Hippel-Lindau: How a rare disease illuminates cancer biology".
2013:
1009:
389:
366:
1965:
Banks, KC; Moline, JJ; Marvin, ML; Newlin, AC; Vogel, KJ (March 2013). "10 rare tumors that warrant a genetics referral".
1160:
1155:
326:
322:
921:
5123:
993:. Although the exact role of this protein in nevoid basal cell carcinoma syndrome is not known, it is involved in the
314:
338:
1203:
leukemia, lymphoma, colon, breast, skin, lung, auditory canal, tongue, esophagus, stomach, tonsil, larynx, uterus
1569:
1557:
1513:
1478:
1369:
1359:
1349:
1178:
1090:
994:
779:
552:
377:
5087:
3175:
918:
gene. Tumors with increased risk in this disorder are colorectal cancer, gastric adenomas and duodenal adenomas.
290:
896:
318:
310:
1553:
1549:
1482:
1219:
1174:
1170:
872:
560:
440:
176:
156:
4513:"Nucleotide excision repair proteins rapidly accumulate but fail to persist in human XP-E (DDB2 mutant) cells"
207:
Example pedigree chart of autosomal dominant inheritance. Many cancer syndromes are inherited in this manner.
2647:"Current hypotheses on how microsatellite instability leads to enhanced survival of Lynch Syndrome patients"
802:
452:
3210:
969:
907:
MUTYH-associated polyposis shares most of its clinical features with FAP; the difference is that it is an
444:
424:
239:) will have a 50% chance of producing an affected child. The mutation in the inherited gene is known as a
192:
3289:"Xeroderma pigmentosum and other diseases of human premature aging and DNA repair: molecules to patients"
3850:
Viktorsson K, De Petris L, Lewensohn R (2005). "The role of p53 in treatment responses of lung cancer".
3811:"DNA damage responses: mechanisms and roles in human disease: 2007 G.H.A. Clowes Memorial Award Lecture"
1496:
1470:
1450:
1021:
880:
708:
680:
556:
397:
225:
104:
92:
and may also cause early onset of these cancers. Hereditary cancer syndromes often show not only a high
1307:
Direct role in HRR, BER, NER and acts in DNA damage response for those pathways and for NHEJ and MMR
3440:
3146:
Todd-Sanford clinical diagnosis by laboratory methods, edited by Israel
Davidsohn John Bernard Henry
2934:
Quesnel S, Malkin D (August 1997). "Genetic predisposition to cancer and familial cancer syndromes".
2344:
1561:
1524:
1440:
1402:
1341:
1295:
953:
836:
634:
622:
255:
3760:"Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer"
2786:"Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations"
1573:
1282:
1053:. Xeroderma pigmentosum may be caused by genetic mutations in 8 genes, which produce the following
1025:
908:
852:
727:
726:
cancer syndrome that increases the risk of colorectal cancer. It is caused by genetic mutations in
548:
536:
420:
251:
243:
and a further mutation in the normal allele results in the development of cancer. This is known as
188:
419:
is a disorder with a wide clinical spectrum, including: early onset and increased risk of cancer;
5036:
4981:
4942:
Cossack, Matthew; Ghaffary, Cameron; Watson, Patrice; Snyder, Carrie; Lynch, Henry (April 2014).
4924:
4730:
4648:
4594:
4350:
3691:
3370:
3005:
2516:
1990:
1935:
1865:
1740:
1608:
An example of a direct to consumer genetic testing kit. This kit comes from the company 'MyGene'.
1530:
1394:
1086:
1029:
949:
840:
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767:
747:
746:. In addition to colorectal cancer many other cancers are increased in frequency. These include;
723:
692:
653:
626:
575:
362:
244:
228:
547:). The FA pathway is involved in DNA repair when the two strands of DNA are incorrectly joined (
5113:
5028:
5020:
4973:
4965:
4944:"Aspirin use is associated with lower prostate cancer risk in male carriers of BRCA mutations"
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4908:
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1982:
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759:
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240:
168:
3488:"Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients"
2713:
5012:
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3529:"Minding the gap: the underground functions of BRCA1 and BRCA2 at stalled replication forks"
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1974:
1907:
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1849:
1808:
1800:
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1046:
986:
978:
844:
660:
656:
597:, which will in most cases progress to cancer. Other tumors increased in frequency include;
472:
81:
77:
151:
Some rare cancers are strongly associated with hereditary cancer predisposition syndromes.
1723:
1706:
1685:
1594:
1585:
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684:
602:
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436:
393:
342:
286:
278:
160:
152:
49:
370:
4667:
4278:"Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging"
3444:
2348:
2201:
220:
Two copies of every gene are present in all cells of the body and each one is called an
4537:
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4485:
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4001:
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3487:
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3428:
3313:
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3197:
3171:"Genotype–phenotype correlation in von Hippel–Lindau disease with retinal angiomatosis"
3086:
3059:
2912:
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2761:
2736:
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2414:
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1912:
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990:
974:
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785:
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676:
630:
416:
385:
381:
358:
302:
172:
164:
108:
5000:
3405:
2947:
5107:
4928:
4749:
4528:
4338:
3429:"Human exonuclease 1 and BLM helicase interact to resect DNA and initiate DNA repair"
2623:
2504:
1903:
1837:
1702:
1115:
860:
672:
610:
448:
428:
354:
180:
93:
30:"Genetic cancer" redirects here. For the study of genetics in cancer in general, see
5055:
5040:
4985:
4750:"What is the cost of genetic testing, and how long does it take to get the results?"
4734:
4652:
4476:
4424:
4354:
3695:
3374:
3122:
3009:
1994:
1869:
4598:
2520:
1705:, as well as that, recent studies show that men with increased risks of developing
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1598:
1390:
864:
856:
587:
540:
350:
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259:
232:
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120:
31:
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3810:
933:
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203:
4385:
3992:
3902:
3628:
3544:
2752:
2610:
Smith EC (2012). "An overview of hereditary breast and ovarian cancer syndrome".
2587:
2570:
778:. These short repetitive sequences of DNA become unstable, leading to a state of
4860:
4843:
4195:
4026:"MUTYH DNA glycosylase: the rationale for removing undamaged bases from the DNA"
3589:
2968:
1697:
1625:
1488:
1037:
998:
814:
687:
is increased. Other cancers that are inconsistently linked to this syndrome are
432:
17:
4628:
4409:"Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology"
4127:
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M (2012).
3863:
3726:
3711:"Endometrial cancer and Lynch syndrome: clinical and pathologic considerations"
3188:
2145:"The concise handbook of family cancer syndromes. Mayo Familial Cancer Program"
1701:
quicker. Regular breast screening is also recommended for women diagnosed with
582:. Around 1 in 8000 people will have this disease and it has approximately 100%
96:
of developing cancer, but also the development of multiple independent primary
5016:
4960:
4943:
4709:
4692:
4293:
4092:
3304:
2993:
2547:
2405:
2161:
2144:
2059:
1978:
1853:
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1106:
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884:
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460:
236:
184:
112:
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4912:
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4787:
4718:
4636:
4244:
4042:
3776:
2842:
2491:
Galiatsatos P, Foulkes WD (February 2006). "Familial adenomatous polyposis".
183:/pheochromocytoma; renal cell carcinoma of chromophobe, hybrid oncocytic, or
3453:
2876:
P53 in the Clinic: TP53 Germline
Mutations: Genetics of Li–Fraumeni Syndrome
1684:
meaning that both breasts are removed), this can often add years onto their
888:
868:
848:
763:
638:
621:
regulation. Faulty APC causes β-catenin to accumulate in cells and activate
456:
116:
5032:
4977:
4920:
4803:
4726:
4644:
4590:
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2721:
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2631:
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2555:
2534:
Macrae F, du Sart D, Nasioulas S (2009). "Familial adenomatous polyposis".
2512:
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2458:
2423:
2374:
2317:
2268:
2219:
2077:
1986:
1921:
1886:
Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR (July 2009).
1861:
1840:(April 2011). "Clinical management of hereditary breast cancer syndromes".
1822:
4877:
3513:
2955:
2920:
2663:
2571:"Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2"
2170:
1420:
basal cell carcinoma, squamous cell carcinoma, intraepidermal carcinoma
427:. The most prominent manifestations of this disorder are those related to
3357:
3340:
3339:
Keimling M, Volcic M, Csernok A, Wieland B, Dörk T, Wiesmüller L (2011).
1804:
1589:
1194:
1128:
1110:
1041:
766:
on each strand of DNA do not match. Defective MMR genes allow continuous
614:
282:
4077:"Familial colon cancer syndromes: an update of a rapidly evolving field"
3427:
Nimonkar AV, Ozsoy AZ, Genschel J, Modrich P, Kowalczykowski SC (2008).
2356:
1310:
sarcomas, breast cancers, brain tumors, and adrenocortical carcinomas
535:(previously known as FANCD1). Inheritance of this syndrome is primarily
44:
is a cancer syndrome in which there are hundreds to thousands of benign
4904:
4693:"Direct-to-consumer genetic testing: introduction to the special issue"
4581:
4564:
4370:"Deficient DNA repair in the human progeroid disorder, Werner syndrome"
3678:
3661:
2250:
1710:
1345:
1033:
598:
590:
45:
4511:
Oh KS, Imoto K, Emmert S, Tamura D, DiGiovanna JJ, Kraemer KH (2011).
3952:
3935:
551:). Many pathways are coordinated by the FA pathway for this including
37:
2299:
1673:
1409:
1364:
1320:
1315:
1132:
1054:
810:
683:
and papillary serous carcinoma of the peritoneum. In men the risk of
586:. An individual with this disease will have hundreds to thousands of
524:
488:
221:
195:
can identify people who are at risk of a hereditary cancer syndrome.
89:
5080:"Genetic risk, race and ethnicity | Cancer Fighters Thrive Magazine"
4842:
Schrag, D.; Kuntz, K. M.; Garber, J. E.; Weeks, J. C. (1997-05-15).
4369:
3389:
2697:
801:
Most cases of familial paraganglioma are caused by mutations in the
4461:"DNA repair diseases: What do they tell us about cancer and aging?"
3887:"Connecting molecular pathways to hereditary cancer risk syndromes"
2333:"Fanconi anaemia and the repair of Watson and Crick DNA crosslinks"
2126:
What is Cancer syndrome or Family cancer syndrome? A Concise Review
2390:"The Fanconi anemia pathway and DNA interstrand cross-link repair"
2284:"Molecular pathogenesis and clinical management of Fanconi anemia"
1466:
1462:
1379:
1333:
1214:
1211:
1082:
1078:
1070:
982:
960:
920:
912:
784:
668:
664:
532:
528:
520:
516:
512:
508:
504:
500:
496:
492:
484:
480:
476:
464:
235:. A heterozygous individual and a person with two normal alleles (
210:
202:
97:
2899:
Birch JM (July 1994). "Familial cancer syndromes and clusters".
1504:
1277:
1274:
1271:
1268:
1263:
1260:
1257:
1254:
1074:
818:
806:
743:
739:
735:
731:
85:
27:
Inherited genetic condition that predisposes a person to cancer
1458:
1454:
1299:
1062:
1058:
671:
genes. In women this disorder primarily increases the risk of
1632:
of $ 100-$ 2000 depending on the type and intricacy of test.
1516:, repairs damage in both transcribed and untranscribed DNA
111:
from turning cancerous. Other genes that may be affected are
3169:
Wong WT, n E, AgrĂł Coleman HR, et al. (February 2007).
1664:
There are other forms of preventive actions, an example for
1105:
Many cancer syndromes are due to an inherited impairment in
932:, a common finding in nevoid basal cell carcinoma syndrome.
1445:
soft tissue sarcoma, colorectal, skin, thyroid, pancreas
539:, but FANCB can be inherited from the maternal or paternal
2980:
Sampson JR, Jones N (2009). "MUTYH-associated polyposis".
1717:
Prevalence of genetic mutations in different ethnic groups
88:
predispose the affected individuals to the development of
1354:
colorectal, duodenal, ovarian, bladder and skin cancers
3060:"Nevoid basal cell carcinoma syndrome (Gorlin syndrome)"
1709:
due to BRCA mutations can decrease their risk by taking
3287:
Niedernhofer LJ, Bohr VA, Sander M, Kraemer KH (2011).
3025:
International
Journal of Oral and Maxillofacial Surgery
2098:
Pathophysiology: functional alterations in human health
2044:"Cancer Risk Assessment for the Primary Care Physician"
119:
and genes involved in the production of blood vessels (
4691:
Myers, Melanie F.; Bernhardt, Barbara A. (June 2012).
3891:
American
Society of Clinical Oncology Educational Book
3148:(14th ed.). Philadelphia: Saunders. p. 555.
1761:
Hereditary Tumors: From Genes to
Clinical Consequences
1759:
Allgayer, Heike; Redher, Helga; Fulda, Simone (2009).
311:
Howel–Evans syndrome of esophageal cancer with tylosis
2102:. Hagerstwon, MD: Lippincott Williams & Wilkins.
1541:skin cancers (basal cell, squamous cell, melanoma)
1049:
that cause xeroderma pigmentosum are associated with
805:(succinate:ubiquinone oxidoreductase) subunit genes (
376:
Examples of autosomal recessive cancer syndromes are
123:). Common examples of inherited cancer syndromes are
3144:
Henry, Todd; Campell, James; Hawley, Arthur (1969).
265:
Examples of autosomal dominant cancer syndromes are
2089:
2087:
103:Many of these syndromes are caused by mutations in
4999:Thorat, Mangesh A.; Cuzick, Jack (December 2013).
2186:"How the fanconi anemia pathway guards the genome"
2095:
1245:leukemia, liver tumors, solid tumors many areas
796:Hereditary paraganglioma-pheochromocytoma syndrome
2014:"Genetic Testing for Hereditary Cancer Syndromes"
1222:of double strand breaks and daughter strand gaps
291:dysplastic nevus syndrome with familial melanoma
3231:
3229:
3227:
2435:
2433:
1789:"Mechanisms of inherited cancer susceptibility"
250:Less often, syndromes may be transmitted as an
3390:"Recombinational DNA repair and human disease"
2569:Petrucelli N, Daly MB, Feldman GL (May 2010).
2138:
2136:
1881:
1879:
1782:
1780:
956:is very high. The disease is characterized by
2969:https://doi.org/10.1158/1078-0432.CCR-17-0408
2331:Kottemann MC, Smogorzewska A (January 2013).
1548:The acronyms for DNA repair pathways are HRR
224:. Most cancer syndromes are transmitted in a
8:
3236:Lehmann AR, McGibbon D, Stefanini M (2011).
1485:strands of transcriptionally active genes
1101:DNA repair defects and increased cancer risk
578:syndrome that greatly increases the risk of
475:. To date, the genes known to cause FA are:
191:; and sex cord tumors with annular tubules.
107:, genes that are involved in protecting the
3334:
3332:
2233:Tischkowitz MD, Hodgson SV (January 2003).
2094:Anderson, Cindy Lou; Carie A Braun (2007).
1960:
1958:
1956:
1731:mutation and regular screening for cancer.
4122:
4120:
1519:skin cancer (melanoma and non-melanoma)
1233:genes FANCA,B,C,D1,D2,E,F,G,I,J,L,M,N,O,P
1120:
613:. The cause of this disorder is a mutated
4959:
4859:
4708:
4580:
4536:
4484:
4432:
4301:
4252:
4203:
4154:
4144:
4100:
4051:
4041:
4000:
3951:
3910:
3885:Testa JR, Malkin D, Schiffman JD (2013).
3826:
3785:
3775:
3734:
3677:
3636:
3552:
3503:
3462:
3452:
3356:
3312:
3263:
3253:
3196:
3085:
3075:
2850:
2801:
2760:
2672:
2662:
2586:
2467:
2457:
2413:
2364:
2307:
2258:
2209:
2160:
2067:
1911:
1812:
1251:Hereditary nonpolyposis colorectal cancer
1028:disorder characterized by sensitivity to
650:Hereditary breast-ovarian cancer syndrome
307:Hereditary nonpolyposis colorectal cancer
299:hereditary breast–ovarian cancer syndrome
142:hereditary breast-ovarian cancer syndrome
125:hereditary breast-ovarian cancer syndrome
4454:
4452:
4024:Markkanen E, Dorn J, HĂĽbscher U (2013).
2878:. New York: Springer. pp. 167–188.
2714:10.1146/annurev.biochem.74.082803.133243
2645:Drescher KM, Sharma P, Lynch HT (2010).
2149:Journal of the National Cancer Institute
1688:. Another preventive measure is regular
1603:
36:
4558:
4556:
2737:"Inherited colorectal cancer syndromes"
1751:
1387:BER for Tg, FapyG, 5-hC, 5-hU in dsDNA
948:, also known as Gorlin syndrome, is an
267:autoimmune lymphoproliferative syndrome
5001:"Role of aspirin in cancer prevention"
1435:Werner syndrome ATP-dependent helicase
722:, also known as Lynch syndrome, is an
273:(although 85% of cases are sporadic),
4610:
4608:
4506:
4504:
4229:"NTHL1 defines novel cancer syndrome"
3709:Meyer LA, Broaddus RR, Lu KH (2009).
3662:"Cancer in Fanconi anemia, 1927-2001"
2440:Half E, Bercovich D, Rozen P (2009).
2123:Saboowala, Dr Hakim K. (2022-04-10).
1672:is the removal of all or some of the
952:cancer syndrome in which the risk of
774:mutations in regions of DNA known as
720:Hereditary non-polyposis colon cancer
715:Hereditary non-polyposis colon cancer
146:hereditary non-polyposis colon cancer
129:hereditary non-polyposis colon cancer
7:
2493:American Journal of Gastroenterology
2282:Kee Y, D'Andrea AD (November 2012).
2008:
2006:
2004:
1666:Hereditary Breast and Ovarian Cancer
946:Nevoid basal cell carcinoma syndrome
941:Nevoid basal cell carcinoma syndrome
911:disorder caused by mutations in the
645:Hereditary breast and ovarian cancer
335:nevoid basal-cell carcinoma syndrome
4848:The New England Journal of Medicine
2202:10.1146/annurev-genet-102108-134222
4227:Kuiper RP, Hoogerbrugge N (2015).
4129:"Nijmegen breakage syndrome (NBS)"
3492:American Journal of Human Genetics
2913:10.1093/oxfordjournals.bmb.a072913
2143:Lindor NM, Greene MH (July 1998).
1668:would be to go through surgery: A
25:
4818:"Genetic testing for cancer risk"
4617:Nature Reviews. Clinical Oncology
4276:Singh DK, Ahn B, Bohr VA (2009).
4133:Orphanet Journal of Rare Diseases
3764:World Journal of Gastroenterology
3758:Carethers JM, Stoffel EM (2015).
3242:Orphanet Journal of Rare Diseases
3064:Orphanet Journal of Rare Diseases
2982:Best Pract Res Clin Gastroenterol
2536:Best Pract Res Clin Gastroenterol
2288:Journal of Clinical Investigation
2184:Moldovan GL, D'Andrea AD (2009).
758:, cancers of the small bowel and
679:, but also increases the risk of
4529:10.1111/j.1751-1097.2011.00909.x
4339:10.1097/00003086-200009000-00032
2624:10.1111/j.1542-2011.2012.00199.x
2505:10.1111/j.1572-0241.2006.00375.x
2442:"Familial adenomatous polyposis"
2388:Su X, Huang J (September 2011).
1904:10.1111/j.1399-0004.2009.01230.x
1696:then they should have a regular
1417:Helicase likely active in HRR
4477:10.1590/s1415-47572014000200008
4425:10.1016/j.semcancer.2010.10.002
3123:10.1016/j.semcancer.2012.05.005
1692:and check-ups. If a person has
1593:a genetic test if their family
1109:capability. When an inherited
985:, and the product of PTCH is a
930:keratocystic odontogenic tumour
62:familial/family cancer syndrome
4184:Cold Spring Harb Perspect Biol
3388:Thompson LH, Schild D (2002).
2735:Kastrinos F, Syngal S (2011).
1842:J Mammary Gland Biol Neoplasia
1491:(melanoma and non-melanoma)
1032:, massively increased risk of
981:of this disease occurs in the
572:Familial adenomatous polyposis
567:Familial adenomatous polyposis
545:x-linked recessive inheritance
388:, MUTYH-associated polyposis,
295:familial adenomatous polyposis
70:cancer predisposition syndrome
42:Familial adenomatous polyposis
1:
4948:Journal of Genetic Counseling
4697:Journal of Genetic Counseling
3852:Biochem. Biophys. Res. Commun
3828:10.1158/1541-7786.MCR-08-0020
3611:Thompson LH, Hinz JM (2009).
3527:Nagaraju G, Scully R (2007).
3406:10.1016/s0027-5107(02)00224-5
2948:10.1016/s0031-3955(05)70530-7
1183:leukemia, lymphoma, breast
1156:ataxia telangiectasia mutated
843:syndrome primarily caused by
349:(LRCC), hereditary papillary
4776:Journal of Clinical Oncology
4459:Menck CF, Munford V (2014).
4386:10.1016/j.mrfmmm.2005.03.021
4178:Krokan HE, Bjørås M (2013).
3993:10.1016/j.molonc.2008.09.007
3934:Rapp A, Greulich KO (2004).
3903:10.1200/EdBook_AM.2013.33.81
3629:10.1016/j.mrfmmm.2009.02.003
3545:10.1016/j.dnarep.2007.02.020
3433:Proc. Natl. Acad. Sci. U.S.A
2753:10.1097/PPO.0b013e318237e408
2588:10.1097/GIM.0b013e3181d38f2f
1651:Maintaining a healthy weight
1590:mutated genes or chromosomes
1150:Cancers with increased risk
855:(often found in childhood),
431:(production of blood by the
357:-pheochromocytoma syndrome,
345:, hereditary leiomyomatosis
327:multiple osteochondromatosis
323:multiple endocrine neoplasia
245:Knudson's two-hit hypothesis
4861:10.1056/NEJM199705153362022
4196:10.1101/cshperspect.a012583
4075:Patel SG, Ahnen DJ (2012).
3590:10.1016/j.ygyno.2014.09.009
2696:Kunkel TA, Erie DA (2005).
2239:Journal of Medical Genetics
1537:Translesion synthesis (TLS)
1527:(also called polymerase H)
315:juvenile polyposis syndrome
271:Beckwith–Wiedemann syndrome
5140:
5054:Reference, Genetics Home.
4748:Reference, Genetics Home.
4668:"What is genetic testing?"
4666:Reference, Genetics Home.
4629:10.1038/nrclinonc.2015.173
3864:10.1016/j.bbrc.2005.03.192
3727:10.1177/107327480901600103
3189:10.1001/archopht.125.2.239
3111:Seminars in Cancer Biology
1787:Hodgson S (January 2008).
1570:nucleotide excision repair
1558:non-homologous end joining
1550:homologous recombinational
1360:Nijmegen breakage syndrome
1147:Repair pathways affected*
1091:nucleotide excision repair
995:hedgehog signaling pathway
903:MUTYH-associated polyposis
879:gene, p53, is involved in
780:microsatellite instability
553:nucleotide excision repair
155:should be considered with
58:hereditary cancer syndrome
29:
5017:10.1007/s11912-013-0351-3
4961:10.1007/s10897-013-9629-8
4710:10.1007/s10897-012-9500-3
4294:10.1007/s10522-008-9205-z
4093:10.1007/s11894-012-0280-6
3305:10.1016/j.mad.2011.06.004
3176:Archives of Ophthalmology
2994:10.1016/j.bpg.2009.03.006
2612:J Midwifery Womens Health
2548:10.1016/j.bpg.2009.02.010
2406:10.1007/s13238-011-1098-y
2060:10.1016/j.pop.2009.04.006
2018:National Cancer Institute
1979:10.1007/s10689-012-9584-9
1940:National Cancer Institute
1854:10.1007/s10911-011-9200-x
1479:Transcription coupled NER
1149:
1146:
1140:
1010:Von Hippel–Lindau disease
1005:Von Hippel–Lindau disease
641:(programmed cell death).
390:Rothmund–Thomson syndrome
367:von Hippel–Lindau disease
269:(Canale-Smith syndrome),
167:; fallopian tube/primary
66:inherited cancer syndrome
5005:Current Oncology Reports
4788:10.1200/JCO.2015.63.0996
4327:Clin. Orthop. Relat. Res
4245:10.18632/oncotarget.5864
4043:10.3389/fgene.2013.00018
3777:10.3748/wjg.v21.i31.9253
2901:British Medical Bulletin
2843:10.1177/1947601911413466
1648:A healthy, balanced diet
1588:can be used to identify
1208:breast cancer 1 & 2
1143:
873:adrenocortical carcinoma
681:fallopian tube carcinoma
561:homologous recombination
453:squamous cell carcinomas
441:myelodysplastic syndrome
425:congenital abnormalities
177:medullary thyroid cancer
157:adrenocortical carcinoma
5060:Genetics Home Reference
4754:Genetics Home Reference
4672:Genetics Home Reference
3940:Journal of Cell Science
3454:10.1073/pnas.0809380105
3238:"Xeroderma pigmentosum"
2936:Pediatr. Clin. North Am
2825:Malkin D (April 2011).
2162:10.1093/jnci/90.14.1039
1763:. Weinheim: Wiley-VCH.
1657:Staying safe under the
1165:Different mutations in
1030:ultra-violet (UV) light
970:Odontogenic keratocysts
803:succinate dehydrogenase
617:, which is involved in
275:Birt–Hogg–Dubé syndrome
193:Primary care physicians
4180:"Base excision repair"
4146:10.1186/1750-1172-7-13
4081:Curr Gastroenterol Rep
3255:10.1186/1750-1172-6-70
3077:10.1186/1750-1172-3-32
3037:10.1054/ijom.2003.0435
2827:"Li-fraumeni syndrome"
2803:10.1001/jama.292.8.943
2459:10.1186/1750-1172-4-22
1680:is removing a breast (
1609:
1439:HRR, NHEJ, long patch
1289:sebaceous adenomas)
1036:and increased risk of
937:
899:for more information.
791:
709:tumor suppressor genes
549:interstrand crosslinks
445:acute myeloid leukemia
339:Peutz–Jeghers syndrome
217:
208:
105:tumor suppressor genes
53:
5119:Syndromes with tumors
2698:"DNA mismatch repair"
2129:. Dr.Hakim Saboowala.
1793:J Zhejiang Univ Sci B
1607:
1566:translesion synthesis
1497:Xeroderma pigmentosum
1451:Xeroderma pigmentosum
1022:Xeroderma pigmentosum
1017:Xeroderma pigmentosum
924:
788:
730:(MMR) genes, notably
623:transcription factors
609:, thyroid tumors and
557:translesion synthesis
398:Xeroderma pigmentosum
378:ataxia–telangiectasia
301:, hereditary diffuse
214:
206:
40:
4517:Photochem. Photobiol
3358:10.1096/fj.11-185546
2040:Gadalla, Shahinaz M.
1805:10.1631/jzus.B073001
1562:base excision repair
1475:XPA XPB XPD XPF XPG
1403:basal-cell carcinoma
1296:Li-Fraumeni syndrome
954:basal cell carcinoma
897:Li-Fraumeni Syndrome
853:soft tissue sarcomas
837:Li-Fraumeni syndrome
832:Li-Fraumeni syndrome
319:Li–Fraumeni syndrome
256:homozygous recessive
4471:(1 Suppl): 220–33.
3445:2008PNAS..10516906N
3058:Lo Muzio L (2008).
2664:10.1155/2010/170432
2446:Orphanet J Rare Dis
2357:10.1038/nature11863
2349:2013Natur.493..356K
2038:Korde, Larissa A.;
1374:lymphoid cancers
1137:
1026:autosomal recessive
997:, known to control
909:autosomal recessive
728:DNA mismatch repair
699:and cancers of the
537:autosomal recessive
421:bone marrow failure
337:(Gorlin syndrome),
252:autosomal recessive
189:sebaceous carcinoma
80:in which inherited
5124:Hereditary cancers
4905:10.1111/codi.12778
4893:Colorectal Disease
4822:Cancer Research UK
4582:10.1002/humu.22462
4413:Semin. Cancer Biol
4407:Monnat RJ (2010).
3946:(Pt 21): 4935–45.
3809:Kastan MB (2008).
3679:10.1002/cncr.11046
3533:DNA Repair (Amst.)
2702:Annu. Rev. Biochem
2651:Clin. Dev. Immunol
2251:10.1136/jmg.40.1.1
1741:Family aggregation
1659:sun's harmful rays
1636:Preventive actions
1610:
1554:sub-pathway of HRR
1531:DNA polymerase eta
1514:Global genomic NER
1395:endometrial cancer
1338:MUTYH glycosylase
1225:breast, ovarian
1121:
950:autosomal dominant
938:
841:autosomal dominant
792:
748:endometrial cancer
724:autosomal dominant
693:male breast cancer
654:autosomal dominant
627:cell proliferation
576:autosomal dominant
469:cafe au lait spots
363:tuberous sclerosis
309:(Lynch syndrome),
229:autosomal dominant
218:
209:
199:Genetics of cancer
148:(Lynch syndrome).
131:(Lynch syndrome).
54:
5056:"Werner syndrome"
4854:(20): 1465–1471.
4782:(31): 3660–3667.
3953:10.1242/jcs.01355
3660:Alter BP (2003).
3486:German J (1969).
3155:978-0-7216-2921-6
2885:978-1-4614-3676-8
2874:Bakry, D (2013).
2235:"Fanconi anaemia"
2109:978-0-7817-6250-2
1724:Werner's Syndrome
1682:double mastectomy
1581:Genetic screening
1545:
1544:
1051:neurodegeneration
1047:genetic mutations
1001:and development.
881:cell cycle arrest
760:pancreatic cancer
697:colorectal cancer
689:pancreatic cancer
661:genetic mutations
593:throughout their
580:colorectal cancer
435:); these include
351:renal cell cancer
347:renal cell cancer
331:neurofibromatosis
241:germline mutation
169:peritoneal cancer
82:genetic mutations
16:(Redirected from
5131:
5099:
5098:
5096:
5095:
5086:. Archived from
5084:CancerCenter.com
5076:
5070:
5069:
5067:
5066:
5051:
5045:
5044:
4996:
4990:
4989:
4963:
4939:
4933:
4932:
4888:
4882:
4881:
4863:
4839:
4833:
4832:
4830:
4829:
4814:
4808:
4807:
4770:
4764:
4763:
4761:
4760:
4745:
4739:
4738:
4712:
4688:
4682:
4681:
4679:
4678:
4663:
4657:
4656:
4612:
4603:
4602:
4584:
4560:
4551:
4550:
4540:
4508:
4499:
4498:
4488:
4465:Genet. Mol. Biol
4456:
4447:
4446:
4436:
4404:
4398:
4397:
4368:Bohr VA (2005).
4365:
4359:
4358:
4322:
4316:
4315:
4305:
4273:
4267:
4266:
4256:
4239:(33): 34069–70.
4224:
4218:
4217:
4207:
4175:
4169:
4168:
4158:
4148:
4124:
4115:
4114:
4104:
4072:
4066:
4065:
4055:
4045:
4021:
4015:
4014:
4004:
3972:
3966:
3965:
3955:
3931:
3925:
3924:
3914:
3882:
3876:
3875:
3847:
3841:
3840:
3830:
3806:
3800:
3799:
3789:
3779:
3755:
3749:
3748:
3738:
3706:
3700:
3699:
3681:
3657:
3651:
3650:
3640:
3608:
3602:
3601:
3573:
3567:
3566:
3556:
3524:
3518:
3517:
3507:
3483:
3477:
3476:
3466:
3456:
3439:(44): 16906–11.
3424:
3418:
3417:
3385:
3379:
3378:
3360:
3336:
3327:
3326:
3316:
3293:Mech. Ageing Dev
3284:
3278:
3277:
3267:
3257:
3233:
3222:
3221:
3219:
3218:
3209:. Archived from
3200:
3166:
3160:
3159:
3141:
3135:
3134:
3106:
3100:
3099:
3089:
3079:
3055:
3049:
3048:
3020:
3014:
3013:
2977:
2971:
2966:
2960:
2959:
2931:
2925:
2924:
2896:
2890:
2889:
2871:
2865:
2864:
2854:
2822:
2816:
2815:
2805:
2781:
2775:
2774:
2764:
2732:
2726:
2725:
2693:
2687:
2686:
2676:
2666:
2642:
2636:
2635:
2607:
2601:
2600:
2590:
2566:
2560:
2559:
2531:
2525:
2524:
2488:
2482:
2481:
2471:
2461:
2437:
2428:
2427:
2417:
2385:
2379:
2378:
2368:
2343:(7432): 356–63.
2328:
2322:
2321:
2311:
2300:10.1172/JCI58321
2294:(11): 3799–806.
2279:
2273:
2272:
2262:
2230:
2224:
2223:
2213:
2190:Annu. Rev. Genet
2181:
2175:
2174:
2164:
2140:
2131:
2130:
2120:
2114:
2113:
2101:
2091:
2082:
2081:
2071:
2035:
2029:
2028:
2026:
2025:
2010:
1999:
1998:
1962:
1951:
1950:
1948:
1947:
1932:
1926:
1925:
1915:
1883:
1874:
1873:
1833:
1827:
1826:
1816:
1784:
1775:
1774:
1756:
1694:Lynch's syndrome
1690:cancer screening
1645:Regular exercise
1141:DNA repair gene
1138:
987:tumor suppressor
979:genetic mutation
977:. The causative
657:genetic disorder
473:hypopigmentation
161:carcinoid tumors
78:genetic disorder
21:
18:Cancer syndromes
5139:
5138:
5134:
5133:
5132:
5130:
5129:
5128:
5104:
5103:
5102:
5093:
5091:
5078:
5077:
5073:
5064:
5062:
5053:
5052:
5048:
4998:
4997:
4993:
4941:
4940:
4936:
4890:
4889:
4885:
4841:
4840:
4836:
4827:
4825:
4816:
4815:
4811:
4772:
4771:
4767:
4758:
4756:
4747:
4746:
4742:
4690:
4689:
4685:
4676:
4674:
4665:
4664:
4660:
4614:
4613:
4606:
4562:
4561:
4554:
4510:
4509:
4502:
4458:
4457:
4450:
4406:
4405:
4401:
4367:
4366:
4362:
4333:(378): 213–23.
4324:
4323:
4319:
4275:
4274:
4270:
4226:
4225:
4221:
4177:
4176:
4172:
4126:
4125:
4118:
4074:
4073:
4069:
4023:
4022:
4018:
3974:
3973:
3969:
3933:
3932:
3928:
3884:
3883:
3879:
3849:
3848:
3844:
3815:Mol. Cancer Res
3808:
3807:
3803:
3770:(31): 9253–61.
3757:
3756:
3752:
3708:
3707:
3703:
3659:
3658:
3654:
3610:
3609:
3605:
3575:
3574:
3570:
3526:
3525:
3521:
3485:
3484:
3480:
3426:
3425:
3421:
3387:
3386:
3382:
3351:(11): 3849–60.
3338:
3337:
3330:
3286:
3285:
3281:
3235:
3234:
3225:
3216:
3214:
3168:
3167:
3163:
3156:
3143:
3142:
3138:
3108:
3107:
3103:
3057:
3056:
3052:
3022:
3021:
3017:
2979:
2978:
2974:
2967:
2963:
2933:
2932:
2928:
2898:
2897:
2893:
2886:
2873:
2872:
2868:
2824:
2823:
2819:
2783:
2782:
2778:
2734:
2733:
2729:
2695:
2694:
2690:
2644:
2643:
2639:
2609:
2608:
2604:
2568:
2567:
2563:
2533:
2532:
2528:
2490:
2489:
2485:
2439:
2438:
2431:
2387:
2386:
2382:
2330:
2329:
2325:
2281:
2280:
2276:
2232:
2231:
2227:
2183:
2182:
2178:
2155:(14): 1039–71.
2142:
2141:
2134:
2122:
2121:
2117:
2110:
2093:
2092:
2085:
2037:
2036:
2032:
2023:
2021:
2012:
2011:
2002:
1967:Familial Cancer
1964:
1963:
1954:
1945:
1943:
1934:
1933:
1929:
1885:
1884:
1877:
1835:
1834:
1830:
1786:
1785:
1778:
1771:
1758:
1757:
1753:
1749:
1737:
1719:
1707:prostate cancer
1686:life expectancy
1638:
1595:medical history
1586:Genetic testing
1583:
1574:mismatch repair
1426:Werner syndrome
1399:duodenal cancer
1325:HRR and NHEJ
1103:
1089:. XPA-XPF are
1019:
1007:
943:
905:
834:
799:
776:microsatellites
717:
685:prostate cancer
647:
635:differentiation
569:
437:aplastic anemia
414:
406:
394:Werner syndrome
343:prostate cancer
287:Cowden syndrome
279:Carney syndrome
201:
153:Genetic testing
137:
84:in one or more
74:cancer syndrome
35:
28:
23:
22:
15:
12:
11:
5:
5137:
5135:
5127:
5126:
5121:
5116:
5106:
5105:
5101:
5100:
5071:
5046:
5011:(6): 533–540.
4991:
4954:(2): 187–191.
4934:
4883:
4834:
4809:
4765:
4740:
4703:(3): 357–360.
4683:
4658:
4604:
4552:
4500:
4448:
4399:
4380:(1–2): 252–9.
4360:
4317:
4282:Biogerontology
4268:
4219:
4190:(4): a012583.
4170:
4116:
4067:
4016:
3987:(4): 296–316.
3967:
3926:
3877:
3842:
3801:
3750:
3715:Cancer Control
3701:
3652:
3623:(1–2): 54–72.
3603:
3578:Gynecol. Oncol
3568:
3539:(7): 1018–31.
3519:
3498:(2): 196–227.
3478:
3419:
3400:(1–2): 49–78.
3380:
3328:
3299:(6–7): 340–7.
3279:
3223:
3161:
3154:
3136:
3101:
3050:
3015:
2972:
2961:
2942:(4): 791–808.
2926:
2891:
2884:
2866:
2817:
2776:
2741:Cancer Journal
2727:
2688:
2637:
2602:
2561:
2542:(2): 197–207.
2526:
2483:
2429:
2380:
2323:
2274:
2225:
2176:
2132:
2115:
2108:
2083:
2054:(3): 471–488.
2042:(2017-05-02).
2030:
2000:
1952:
1927:
1875:
1828:
1776:
1769:
1750:
1748:
1745:
1744:
1743:
1736:
1733:
1728:Ashkenazi Jews
1718:
1715:
1703:BRCA mutations
1662:
1661:
1655:
1652:
1649:
1646:
1637:
1634:
1582:
1579:
1578:
1577:
1543:
1542:
1539:
1534:
1528:
1521:
1520:
1517:
1511:
1508:
1493:
1492:
1486:
1476:
1473:
1447:
1446:
1443:
1437:
1432:
1422:
1421:
1418:
1415:
1412:
1406:
1405:
1388:
1385:
1382:
1376:
1375:
1372:
1367:
1362:
1356:
1355:
1352:
1339:
1336:
1330:
1329:
1326:
1323:
1318:
1312:
1311:
1308:
1305:
1302:
1292:
1291:
1285:
1280:
1266:
1247:
1246:
1243:
1237:
1234:
1231:Fanconi anemia
1227:
1226:
1223:
1217:
1209:
1205:
1204:
1201:
1198:
1191:
1189:Bloom syndrome
1185:
1184:
1181:
1163:
1158:
1152:
1151:
1148:
1145:
1142:
1131:that increase
1102:
1099:
1018:
1015:
1006:
1003:
991:cell signaling
942:
939:
904:
901:
833:
830:
798:
793:
756:ovarian cancer
752:stomach cancer
716:
713:
677:ovarian cancer
646:
643:
611:desmoid tumors
568:
565:
449:Hepatic tumors
417:Fanconi anemia
413:
412:Fanconi anemia
410:
405:
402:
386:Fanconi anemia
382:Bloom syndrome
359:retinoblastoma
303:gastric cancer
200:
197:
173:leiomyosarcoma
165:gastric cancer
136:
133:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
5136:
5125:
5122:
5120:
5117:
5115:
5112:
5111:
5109:
5090:on 2018-02-21
5089:
5085:
5081:
5075:
5072:
5061:
5057:
5050:
5047:
5042:
5038:
5034:
5030:
5026:
5022:
5018:
5014:
5010:
5006:
5002:
4995:
4992:
4987:
4983:
4979:
4975:
4971:
4967:
4962:
4957:
4953:
4949:
4945:
4938:
4935:
4930:
4926:
4922:
4918:
4914:
4910:
4906:
4902:
4898:
4894:
4887:
4884:
4879:
4875:
4871:
4867:
4862:
4857:
4853:
4849:
4845:
4838:
4835:
4823:
4819:
4813:
4810:
4805:
4801:
4797:
4793:
4789:
4785:
4781:
4777:
4769:
4766:
4755:
4751:
4744:
4741:
4736:
4732:
4728:
4724:
4720:
4716:
4711:
4706:
4702:
4698:
4694:
4687:
4684:
4673:
4669:
4662:
4659:
4654:
4650:
4646:
4642:
4638:
4634:
4630:
4626:
4622:
4618:
4611:
4609:
4605:
4600:
4596:
4592:
4588:
4583:
4578:
4575:(1): 117–28.
4574:
4570:
4566:
4559:
4557:
4553:
4548:
4544:
4539:
4534:
4530:
4526:
4523:(3): 729–33.
4522:
4518:
4514:
4507:
4505:
4501:
4496:
4492:
4487:
4482:
4478:
4474:
4470:
4466:
4462:
4455:
4453:
4449:
4444:
4440:
4435:
4430:
4426:
4422:
4419:(5): 329–39.
4418:
4414:
4410:
4403:
4400:
4395:
4391:
4387:
4383:
4379:
4375:
4371:
4364:
4361:
4356:
4352:
4348:
4344:
4340:
4336:
4332:
4328:
4321:
4318:
4313:
4309:
4304:
4299:
4295:
4291:
4288:(3): 235–52.
4287:
4283:
4279:
4272:
4269:
4264:
4260:
4255:
4250:
4246:
4242:
4238:
4234:
4230:
4223:
4220:
4215:
4211:
4206:
4201:
4197:
4193:
4189:
4185:
4181:
4174:
4171:
4166:
4162:
4157:
4152:
4147:
4142:
4138:
4134:
4130:
4123:
4121:
4117:
4112:
4108:
4103:
4098:
4094:
4090:
4087:(5): 428–38.
4086:
4082:
4078:
4071:
4068:
4063:
4059:
4054:
4049:
4044:
4039:
4035:
4031:
4027:
4020:
4017:
4012:
4008:
4003:
3998:
3994:
3990:
3986:
3982:
3978:
3971:
3968:
3963:
3959:
3954:
3949:
3945:
3941:
3937:
3930:
3927:
3922:
3918:
3913:
3908:
3904:
3900:
3896:
3892:
3888:
3881:
3878:
3873:
3869:
3865:
3861:
3858:(3): 868–80.
3857:
3853:
3846:
3843:
3838:
3834:
3829:
3824:
3821:(4): 517–24.
3820:
3816:
3812:
3805:
3802:
3797:
3793:
3788:
3783:
3778:
3773:
3769:
3765:
3761:
3754:
3751:
3746:
3742:
3737:
3732:
3728:
3724:
3720:
3716:
3712:
3705:
3702:
3697:
3693:
3689:
3685:
3680:
3675:
3672:(2): 425–40.
3671:
3667:
3663:
3656:
3653:
3648:
3644:
3639:
3634:
3630:
3626:
3622:
3618:
3614:
3607:
3604:
3599:
3595:
3591:
3587:
3583:
3579:
3572:
3569:
3564:
3560:
3555:
3550:
3546:
3542:
3538:
3534:
3530:
3523:
3520:
3515:
3511:
3506:
3501:
3497:
3493:
3489:
3482:
3479:
3474:
3470:
3465:
3460:
3455:
3450:
3446:
3442:
3438:
3434:
3430:
3423:
3420:
3415:
3411:
3407:
3403:
3399:
3395:
3391:
3384:
3381:
3376:
3372:
3368:
3364:
3359:
3354:
3350:
3346:
3345:FASEB Journal
3342:
3335:
3333:
3329:
3324:
3320:
3315:
3310:
3306:
3302:
3298:
3294:
3290:
3283:
3280:
3275:
3271:
3266:
3261:
3256:
3251:
3247:
3243:
3239:
3232:
3230:
3228:
3224:
3213:on 2008-12-12
3212:
3208:
3204:
3199:
3194:
3190:
3186:
3183:(2): 239–45.
3182:
3178:
3177:
3172:
3165:
3162:
3157:
3151:
3147:
3140:
3137:
3132:
3128:
3124:
3120:
3116:
3112:
3105:
3102:
3097:
3093:
3088:
3083:
3078:
3073:
3069:
3065:
3061:
3054:
3051:
3046:
3042:
3038:
3034:
3031:(2): 117–24.
3030:
3026:
3019:
3016:
3011:
3007:
3003:
2999:
2995:
2991:
2988:(2): 209–18.
2987:
2983:
2976:
2973:
2970:
2965:
2962:
2957:
2953:
2949:
2945:
2941:
2937:
2930:
2927:
2922:
2918:
2914:
2910:
2907:(3): 624–39.
2906:
2902:
2895:
2892:
2887:
2881:
2877:
2870:
2867:
2862:
2858:
2853:
2848:
2844:
2840:
2837:(4): 475–84.
2836:
2832:
2828:
2821:
2818:
2813:
2809:
2804:
2799:
2796:(8): 943–51.
2795:
2791:
2787:
2780:
2777:
2772:
2768:
2763:
2758:
2754:
2750:
2747:(6): 405–15.
2746:
2742:
2738:
2731:
2728:
2723:
2719:
2715:
2711:
2707:
2703:
2699:
2692:
2689:
2684:
2680:
2675:
2670:
2665:
2660:
2656:
2652:
2648:
2641:
2638:
2633:
2629:
2625:
2621:
2618:(6): 577–84.
2617:
2613:
2606:
2603:
2598:
2594:
2589:
2584:
2581:(5): 245–59.
2580:
2576:
2572:
2565:
2562:
2557:
2553:
2549:
2545:
2541:
2537:
2530:
2527:
2522:
2518:
2514:
2510:
2506:
2502:
2499:(2): 385–98.
2498:
2494:
2487:
2484:
2479:
2475:
2470:
2465:
2460:
2455:
2451:
2447:
2443:
2436:
2434:
2430:
2425:
2421:
2416:
2411:
2407:
2403:
2400:(9): 704–11.
2399:
2395:
2391:
2384:
2381:
2376:
2372:
2367:
2362:
2358:
2354:
2350:
2346:
2342:
2338:
2334:
2327:
2324:
2319:
2315:
2310:
2305:
2301:
2297:
2293:
2289:
2285:
2278:
2275:
2270:
2266:
2261:
2256:
2252:
2248:
2244:
2240:
2236:
2229:
2226:
2221:
2217:
2212:
2207:
2203:
2199:
2195:
2191:
2187:
2180:
2177:
2172:
2168:
2163:
2158:
2154:
2150:
2146:
2139:
2137:
2133:
2128:
2127:
2119:
2116:
2111:
2105:
2100:
2099:
2090:
2088:
2084:
2079:
2075:
2070:
2065:
2061:
2057:
2053:
2049:
2045:
2041:
2034:
2031:
2019:
2015:
2009:
2007:
2005:
2001:
1996:
1992:
1988:
1984:
1980:
1976:
1972:
1968:
1961:
1959:
1957:
1953:
1941:
1937:
1931:
1928:
1923:
1919:
1914:
1909:
1905:
1901:
1897:
1893:
1889:
1882:
1880:
1876:
1871:
1867:
1863:
1859:
1855:
1851:
1847:
1843:
1839:
1832:
1829:
1824:
1820:
1815:
1810:
1806:
1802:
1798:
1794:
1790:
1783:
1781:
1777:
1772:
1770:9783527320288
1766:
1762:
1755:
1752:
1746:
1742:
1739:
1738:
1734:
1732:
1729:
1725:
1716:
1714:
1712:
1708:
1704:
1699:
1695:
1691:
1687:
1683:
1679:
1675:
1671:
1667:
1660:
1656:
1653:
1650:
1647:
1644:
1643:
1642:
1635:
1633:
1629:
1627:
1623:
1619:
1615:
1606:
1602:
1600:
1596:
1591:
1587:
1580:
1575:
1571:
1567:
1563:
1559:
1555:
1551:
1547:
1546:
1540:
1538:
1535:
1532:
1529:
1526:
1523:
1522:
1518:
1515:
1512:
1509:
1506:
1502:
1498:
1495:
1494:
1490:
1487:
1484:
1480:
1477:
1474:
1472:
1468:
1464:
1460:
1456:
1452:
1449:
1448:
1444:
1442:
1438:
1436:
1433:
1431:
1427:
1424:
1423:
1419:
1416:
1413:
1411:
1408:
1407:
1404:
1400:
1396:
1392:
1389:
1386:
1383:
1381:
1378:
1377:
1373:
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1224:
1221:
1218:
1216:
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1199:
1196:
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1187:
1186:
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1176:
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1168:
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1162:
1159:
1157:
1154:
1153:
1139:
1136:
1134:
1130:
1126:
1119:
1117:
1116:DNA synthesis
1112:
1108:
1100:
1098:
1096:
1092:
1088:
1084:
1080:
1076:
1072:
1068:
1064:
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1048:
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1016:
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1000:
996:
992:
988:
984:
980:
976:
971:
966:
962:
959:
955:
951:
947:
940:
935:
934:H&E stain
931:
927:
923:
919:
917:
914:
910:
902:
900:
898:
894:
890:
886:
882:
878:
874:
870:
866:
862:
861:breast cancer
858:
854:
850:
846:
842:
838:
831:
829:
827:
822:
820:
816:
812:
808:
804:
797:
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769:
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749:
745:
741:
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733:
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721:
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458:
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450:
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438:
434:
430:
429:hematopoeisis
426:
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418:
411:
409:
403:
401:
399:
395:
391:
387:
383:
379:
374:
372:
368:
364:
360:
356:
355:paraganglioma
353:, hereditary
352:
348:
344:
340:
336:
332:
328:
324:
320:
316:
312:
308:
304:
300:
296:
292:
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242:
238:
234:
230:
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213:
205:
198:
196:
194:
190:
186:
182:
181:paraganglioma
178:
174:
170:
166:
162:
158:
154:
149:
147:
143:
134:
132:
130:
126:
122:
118:
114:
110:
106:
101:
99:
95:
94:lifetime risk
91:
87:
83:
79:
76:, etc.) is a
75:
71:
67:
63:
59:
51:
47:
43:
39:
33:
19:
5092:. Retrieved
5088:the original
5083:
5074:
5063:. Retrieved
5059:
5049:
5008:
5004:
4994:
4951:
4947:
4937:
4899:(1): 38–46.
4896:
4892:
4886:
4851:
4847:
4837:
4826:. Retrieved
4824:. 2015-06-02
4821:
4812:
4779:
4775:
4768:
4757:. Retrieved
4753:
4743:
4700:
4696:
4686:
4675:. Retrieved
4671:
4661:
4623:(1): 41–54.
4620:
4616:
4572:
4568:
4520:
4516:
4468:
4464:
4416:
4412:
4402:
4377:
4373:
4363:
4330:
4326:
4320:
4285:
4281:
4271:
4236:
4232:
4222:
4187:
4183:
4173:
4136:
4132:
4084:
4080:
4070:
4033:
4029:
4019:
3984:
3980:
3970:
3943:
3939:
3929:
3894:
3890:
3880:
3855:
3851:
3845:
3818:
3814:
3804:
3767:
3763:
3753:
3721:(1): 14–22.
3718:
3714:
3704:
3669:
3665:
3655:
3620:
3616:
3606:
3581:
3577:
3571:
3536:
3532:
3522:
3495:
3491:
3481:
3436:
3432:
3422:
3397:
3393:
3383:
3348:
3344:
3296:
3292:
3282:
3245:
3241:
3215:. Retrieved
3211:the original
3180:
3174:
3164:
3145:
3139:
3117:(1): 26–37.
3114:
3110:
3104:
3067:
3063:
3053:
3028:
3024:
3018:
2985:
2981:
2975:
2964:
2939:
2935:
2929:
2904:
2900:
2894:
2875:
2869:
2834:
2831:Genes Cancer
2830:
2820:
2793:
2789:
2779:
2744:
2740:
2730:
2705:
2701:
2691:
2654:
2650:
2640:
2615:
2611:
2605:
2578:
2574:
2564:
2539:
2535:
2529:
2496:
2492:
2486:
2449:
2445:
2397:
2394:Protein Cell
2393:
2383:
2340:
2336:
2326:
2291:
2287:
2277:
2242:
2238:
2228:
2193:
2189:
2179:
2152:
2148:
2125:
2118:
2097:
2051:
2048:Primary Care
2047:
2033:
2022:. Retrieved
2020:. 2013-04-22
2017:
1970:
1966:
1944:. Retrieved
1942:. 2015-04-22
1939:
1930:
1895:
1891:
1848:(1): 17–25.
1845:
1841:
1831:
1796:
1792:
1760:
1754:
1720:
1676:, whereas a
1670:hysterectomy
1663:
1639:
1630:
1614:consultation
1611:
1599:ethnic group
1584:
1552:repair, SSA
1481:repairs the
1391:Colon cancer
1348:paired with
1288:
1166:
1122:
1104:
1038:skin cancers
1020:
1008:
989:involved in
944:
906:
892:
876:
865:brain cancer
857:osteosarcoma
835:
823:
800:
790:generations.
718:
648:
625:involved in
574:(FAP) is an
570:
541:x-chromosome
415:
407:
375:
371:Wilm's tumor
264:
260:heterozygous
249:
233:heterozygous
219:
150:
138:
121:angiogenesis
102:
73:
69:
65:
61:
57:
55:
32:Oncogenomics
4030:Front Genet
2708:: 681–710.
2245:(1): 1–10.
1973:(1): 1–18.
1898:(1): 1–18.
1892:Clin. Genet
1698:colonoscopy
1654:Not smoking
1626:buccal swab
1618:body fluids
1489:skin cancer
1483:transcribed
1236:FANCA etc.
999:cell growth
965:keratocysts
433:bone marrow
341:, familial
281:, familial
187:histology;
5108:Categories
5094:2018-02-20
5065:2018-02-20
4828:2018-02-20
4759:2018-02-20
4677:2018-02-20
4569:Hum. Mutat
4374:Mutat. Res
4233:Oncotarget
3617:Mutat. Res
3584:(1): 3–7.
3394:Mutat. Res
3217:2008-10-22
2575:Genet. Med
2196:: 223–49.
2024:2018-02-19
1946:2018-02-20
1936:"Genetics"
1838:Domchek SM
1836:Clark AS,
1799:(1): 1–4.
1747:References
1678:mastectomy
1125:DNA repair
1123:Inherited
1107:DNA repair
1095:polymerase
958:basal cell
926:Micrograph
916:DNA repair
885:DNA repair
826:imprinting
659:caused by
607:carcinomas
601:, adrenal
584:penetrance
461:oropharynx
333:type 1/2,
325:type 1/2,
237:homozygous
185:oncocytoma
163:; diffuse
135:Background
113:DNA repair
5025:1534-6269
4970:1573-3599
4929:205027427
4913:1463-1318
4870:0028-4793
4796:1527-7755
4719:1573-3599
4637:1759-4782
3981:Mol Oncol
3897:: 81–90.
1510:XPC, XPE
1365:NBS (NBN)
1328:breast
1129:mutations
983:PTCH gene
889:apoptosis
869:leukaemia
849:TP53 gene
845:mutations
768:insertion
639:apoptosis
631:migration
619:β-catenin
457:esophagus
226:mendelian
117:oncogenes
5114:Oncology
5041:40187047
5033:24114189
4986:15371573
4978:23881471
4921:25213040
4804:26324357
4735:18281938
4727:22441809
4653:24456816
4645:26483301
4591:24130121
4547:21388382
4495:24764756
4443:20934517
4394:15916783
4355:36781050
4347:10986997
4312:19083132
4263:26431160
4214:23545420
4165:22373003
4111:22864806
4062:23450852
4011:19383352
3962:15367581
3921:23714463
3872:15865943
3837:18403632
3796:26309352
3745:19078925
3696:38251423
3688:12518367
3647:19622404
3598:25238946
3563:17379580
3473:18971343
3414:12427531
3375:24698475
3367:21778326
3323:21708183
3274:22044607
3207:17296901
3131:22659535
3096:19032739
3045:15050066
3010:24117301
3002:19414147
2861:21779515
2812:15328326
2771:22157284
2722:15952900
2683:20631828
2657:: 1–13.
2632:23050669
2597:20216074
2556:19414146
2513:16454848
2478:19822006
2424:21948210
2375:23325218
2318:23114602
2269:12525534
2220:19686080
2078:19616151
1995:14426194
1987:23377869
1922:19659756
1870:21417924
1862:21360002
1823:18196605
1735:See also
1533:(Pol η)
1350:8-oxo-dG
1239:HRR and
1195:helicase
1144:Protein
1111:mutation
1042:melanoma
975:rib cage
928:showing
772:deletion
615:APC gene
603:adenomas
599:osteomas
591:adenomas
404:Examples
305:(HDGC),
283:chordoma
46:adenomas
4878:9148160
4599:2854418
4538:3082610
4486:3983582
4434:3040982
4303:2713741
4254:4741436
4205:3683898
4156:3314554
4102:3448005
4053:3584444
4002:5527773
3912:5889618
3787:4541378
3736:3693757
3638:2714807
3554:2989184
3514:5770175
3505:1706430
3464:2579351
3441:Bibcode
3314:3474983
3265:3221642
3198:3019103
3087:2607262
2956:9286285
2921:7987644
2852:3135649
2762:3240819
2674:2901607
2521:8516051
2469:2772987
2415:4875268
2366:3700363
2345:Bibcode
2309:3484428
2260:1735271
2211:2830711
2171:9672254
2069:2713871
1913:2846640
1814:2170461
1711:aspirin
1556:, NHEJ
1503:, XPE (
1169:reduce
1055:enzymes
1034:sunburn
847:in the
663:of the
455:of the
115:genes,
48:in the
5039:
5031:
5023:
4984:
4976:
4968:
4927:
4919:
4911:
4876:
4868:
4802:
4794:
4733:
4725:
4717:
4651:
4643:
4635:
4597:
4589:
4545:
4535:
4493:
4483:
4441:
4431:
4392:
4353:
4345:
4310:
4300:
4261:
4251:
4212:
4202:
4163:
4153:
4139:: 13.
4109:
4099:
4060:
4050:
4036:: 18.
4009:
3999:
3960:
3919:
3909:
3870:
3835:
3794:
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3743:
3733:
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3686:
3666:Cancer
3645:
3635:
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3561:
3551:
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3502:
3471:
3461:
3412:
3373:
3365:
3321:
3311:
3272:
3262:
3248:: 70.
3205:
3195:
3152:
3129:
3094:
3084:
3070:: 32.
3043:
3008:
3000:
2954:
2919:
2882:
2859:
2849:
2810:
2769:
2759:
2720:
2681:
2671:
2630:
2595:
2554:
2519:
2511:
2476:
2466:
2452:: 22.
2422:
2412:
2373:
2363:
2337:Nature
2316:
2306:
2267:
2257:
2218:
2208:
2169:
2106:
2076:
2066:
1993:
1985:
1920:
1910:
1868:
1860:
1821:
1811:
1767:
1674:uterus
1572:, MMR
1568:, NER
1564:, TLS
1560:, BER
1499:genes
1453:genes
1414:RECQ4
1410:RECQL4
1384:NTHL1
1316:MRE11A
1253:genes
1200:HRR
1133:cancer
1024:is an
963:, jaw
839:is an
811:SDHAF2
705:cervix
701:uterus
673:breast
652:is an
588:benign
489:FANCD2
423:; and
222:allele
98:tumors
90:cancer
5037:S2CID
4982:S2CID
4925:S2CID
4731:S2CID
4649:S2CID
4595:S2CID
4351:S2CID
3692:S2CID
3371:S2CID
3006:S2CID
2517:S2CID
1991:S2CID
1866:S2CID
1622:cells
1428:gene
1380:NTHL1
1334:MUTYH
1321:MRE11
1298:gene
1215:BRCA2
1212:BRCA1
1193:BLM (
1127:gene
1087:Pol η
913:MUTYH
770:and
764:bases
669:BRCA2
665:BRCA1
595:colon
533:BRCA2
529:FANCP
525:FANCO
521:FANCN
517:FANCM
513:FANCL
509:FANCJ
505:FANCI
501:FANCG
497:FANCF
493:FANCE
485:FANCC
481:FANCB
477:FANCA
465:uvula
216:gene.
86:genes
50:colon
5029:PMID
5021:ISSN
4974:PMID
4966:ISSN
4917:PMID
4909:ISSN
4874:PMID
4866:ISSN
4800:PMID
4792:ISSN
4723:PMID
4715:ISSN
4641:PMID
4633:ISSN
4587:PMID
4543:PMID
4491:PMID
4439:PMID
4390:PMID
4343:PMID
4308:PMID
4259:PMID
4210:PMID
4161:PMID
4107:PMID
4058:PMID
4007:PMID
3958:PMID
3917:PMID
3868:PMID
3833:PMID
3792:PMID
3741:PMID
3684:PMID
3643:PMID
3594:PMID
3559:PMID
3510:PMID
3469:PMID
3410:PMID
3363:PMID
3319:PMID
3270:PMID
3203:PMID
3150:ISBN
3127:PMID
3092:PMID
3041:PMID
2998:PMID
2952:PMID
2917:PMID
2880:ISBN
2857:PMID
2808:PMID
2790:JAMA
2767:PMID
2718:PMID
2679:PMID
2655:2010
2628:PMID
2593:PMID
2552:PMID
2509:PMID
2474:PMID
2420:PMID
2371:PMID
2314:PMID
2265:PMID
2216:PMID
2167:PMID
2104:ISBN
2074:PMID
1983:PMID
1918:PMID
1858:PMID
1819:PMID
1765:ISBN
1505:DDB2
1370:NHEJ
1304:P53
1300:TP53
1278:PMS2
1275:MLH1
1272:MSH6
1269:MSH2
1264:PMS2
1261:MLH1
1258:MSH6
1255:MSH2
1179:NHEJ
1135:risk
1085:and
961:nevi
893:TP53
887:and
877:TP53
871:and
819:SDHB
815:SDHC
807:SDHD
744:PMS2
742:and
740:MSH6
736:MSH2
732:MLH1
703:and
675:and
667:and
637:and
605:and
559:and
531:and
471:and
463:and
451:and
443:and
396:and
369:and
144:and
127:and
109:cell
5013:doi
4956:doi
4901:doi
4856:doi
4852:336
4784:doi
4705:doi
4625:doi
4577:doi
4533:PMC
4525:doi
4481:PMC
4473:doi
4429:PMC
4421:doi
4382:doi
4378:577
4335:doi
4331:378
4298:PMC
4290:doi
4249:PMC
4241:doi
4200:PMC
4192:doi
4151:PMC
4141:doi
4097:PMC
4089:doi
4048:PMC
4038:doi
3997:PMC
3989:doi
3948:doi
3944:117
3907:PMC
3899:doi
3860:doi
3856:331
3823:doi
3782:PMC
3772:doi
3731:PMC
3723:doi
3674:doi
3633:PMC
3625:doi
3621:668
3586:doi
3582:136
3549:PMC
3541:doi
3500:PMC
3459:PMC
3449:doi
3437:105
3402:doi
3398:509
3353:doi
3309:PMC
3301:doi
3297:132
3260:PMC
3250:doi
3193:PMC
3185:doi
3181:125
3119:doi
3082:PMC
3072:doi
3033:doi
2990:doi
2944:doi
2909:doi
2847:PMC
2839:doi
2798:doi
2794:292
2757:PMC
2749:doi
2710:doi
2669:PMC
2659:doi
2620:doi
2583:doi
2544:doi
2501:doi
2497:101
2464:PMC
2454:doi
2410:PMC
2402:doi
2361:PMC
2353:doi
2341:493
2304:PMC
2296:doi
2292:122
2255:PMC
2247:doi
2206:PMC
2198:doi
2157:doi
2064:PMC
2056:doi
1975:doi
1908:PMC
1900:doi
1850:doi
1809:PMC
1801:doi
1620:or
1525:XPV
1501:XPC
1471:XPG
1467:XPF
1463:XPD
1459:XPB
1455:XPA
1441:BER
1430:WRN
1344:of
1342:BER
1283:MMR
1241:TLS
1220:HRR
1177:or
1175:SSA
1171:HRR
1167:ATM
1161:ATM
1083:XPG
1079:XPF
1075:XPE
1071:XPD
1067:XPC
1063:XPB
1059:XPA
821:).
5110::
5082:.
5058:.
5035:.
5027:.
5019:.
5009:15
5007:.
5003:.
4980:.
4972:.
4964:.
4952:23
4950:.
4946:.
4923:.
4915:.
4907:.
4897:17
4895:.
4872:.
4864:.
4850:.
4846:.
4820:.
4798:.
4790:.
4780:33
4778:.
4752:.
4729:.
4721:.
4713:.
4701:21
4699:.
4695:.
4670:.
4647:.
4639:.
4631:.
4621:13
4619:.
4607:^
4593:.
4585:.
4573:35
4571:.
4567:.
4555:^
4541:.
4531:.
4521:87
4519:.
4515:.
4503:^
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