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Hereditary cancer syndrome

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911: 1605:, 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 775: 201: 193: 1086:, 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. 1620:
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
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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,
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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
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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
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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
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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
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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
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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".
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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:
236:, 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. 778:
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
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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
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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
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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
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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.
864:. 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 27: 251:) 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. 1617:. 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. 961:
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
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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.
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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
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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.
880:. 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 4314:
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".
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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
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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).
3330:"Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways" 1276:
colorectal, endometrial, ovariain, gastrointestinal tract (stomach and small intestine, pancreas, biliary tract), urinary tract, brain (glioblastomas), and skin (keratoacanthomas and
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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
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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
696:. 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 4806: 129:
testing is improving detection, treatment, and prevention of cancer syndromes. Given the prevalence of breast and colon cancer, the most widely recognized syndromes include
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Lancaster JM, Powell CB, Chen LM, Richardson DL (2015). "Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions".
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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.
884:, 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 3964:
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).
771:(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. 4604:
Foulkes, William D.; Knoppers, Bartha Maria; Turnbull, Clare (January 2016). "Population genetic testing for cancer susceptibility: founder mutations to genomes".
247:. 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 ( 817:. 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. 1654: 287: 3925:"After double-strand break induction by UV-A, homologous recombination and nonhomologous end joining cooperate at the same DSB if both systems are available" 840:, 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; 5068: 4880:
Newton, K.; Green, K.; Lalloo, F.; Evans, D. G.; Hill, J. (January 2015). "Colonoscopy screening compliance and outcomes in patients with Lynch syndrome".
1702:. 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. 1107:
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.
1682: 1239: 751:. Hereditary non-polyposis colon cancer is also associated with an early onset of colorectal cancer. MMR genes are involved in repairing DNA when the 638: 295: 130: 113: 1613:
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
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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
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Although cancer syndromes exhibit an increased risk of cancer, the risk varies. For some of these diseases, cancer is not their primary feature.
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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).
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are solid tumors commonly linked to FA. Congenital abnormalities include: skeletal anomalies (especially those affecting the hands),
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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
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enzymes that repair UV light-damaged DNA and faulty proteins will allow the buildup of mutations caused by UV light. Pol η is a
1029:. The risk of skin cancer is more than 10000 times that of normal individuals and includes many types of skin cancer, including 259: 918: 3012:
Manfredi M, Vescovi P, Bonanini M, Porter S (March 2004). "Nevoid basal cell carcinoma syndrome: a review of the literature".
5107: 1877:"Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications" 560: 533: 283: 30: 3098:
Richard, S; Gardie, B; Couvé, S; Gad, S (May 30, 2012). "Von Hippel-Lindau: How a rare disease illuminates cancer biology".
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Banks, KC; Moline, JJ; Marvin, ML; Newlin, AC; Vogel, KJ (March 2013). "10 rare tumors that warrant a genetics referral".
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leukemia, lymphoma, colon, breast, skin, lung, auditory canal, tongue, esophagus, stomach, tonsil, larynx, uterus
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gene. Tumors with increased risk in this disorder are colorectal cancer, gastric adenomas and duodenal adenomas.
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Example pedigree chart of autosomal dominant inheritance. Many cancer syndromes are inherited in this manner.
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MUTYH-associated polyposis shares most of its clinical features with FAP; the difference is that it is an
433: 413: 228:) will have a 50% chance of producing an affected child. The mutation in the inherited gene is known as a 181: 3278:"Xeroderma pigmentosum and other diseases of human premature aging and DNA repair: molecules to patients" 3839:
Viktorsson K, De Petris L, Lewensohn R (2005). "The role of p53 in treatment responses of lung cancer".
3800:"DNA damage responses: mechanisms and roles in human disease: 2007 G.H.A. Clowes Memorial Award Lecture" 1485: 1459: 1439: 1010: 869: 697: 669: 545: 386: 214: 93: 81:
and may also cause early onset of these cancers. Hereditary cancer syndromes often show not only a high
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Direct role in HRR, BER, NER and acts in DNA damage response for those pathways and for NHEJ and MMR
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Todd-Sanford clinical diagnosis by laboratory methods, edited by Israel Davidsohn John Bernard Henry
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Quesnel S, Malkin D (August 1997). "Genetic predisposition to cancer and familial cancer syndromes".
2333: 1550: 1513: 1429: 1391: 1330: 1284: 942: 825: 623: 611: 244: 3749:"Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer" 2775:"Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations" 1562: 1271: 1042:. Xeroderma pigmentosum may be caused by genetic mutations in 8 genes, which produce the following 1014: 897: 841: 716: 715:
cancer syndrome that increases the risk of colorectal cancer. It is caused by genetic mutations in
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and a further mutation in the normal allele results in the development of cancer. This is known as
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is a disorder with a wide clinical spectrum, including: early onset and increased risk of cancer;
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Cossack, Matthew; Ghaffary, Cameron; Watson, Patrice; Snyder, Carrie; Lynch, Henry (April 2014).
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An example of a direct to consumer genetic testing kit. This kit comes from the company 'MyGene'.
1519: 1383: 1075: 1018: 938: 829: 814: 756: 736: 735:. In addition to colorectal cancer many other cancers are increased in frequency. These include; 712: 681: 642: 615: 564: 351: 233: 217: 536:). The FA pathway is involved in DNA repair when the two strands of DNA are incorrectly joined ( 5102: 5017: 5009: 4962: 4954: 4933:"Aspirin use is associated with lower prostate cancer risk in male carriers of BRCA mutations" 4905: 4897: 4862: 4854: 4788: 4780: 4711: 4703: 4629: 4621: 4575: 4531: 4479: 4427: 4378: 4331: 4296: 4247: 4198: 4149: 4095: 4046: 3995: 3946: 3905: 3856: 3821: 3780: 3729: 3672: 3631: 3582: 3547: 3498: 3457: 3398: 3351: 3307: 3258: 3191: 3138: 3115: 3080: 3029: 2986: 2940: 2905: 2868: 2845: 2796: 2755: 2706: 2667: 2616: 2581: 2540: 2497: 2462: 2408: 2359: 2302: 2253: 2204: 2155: 2092: 2062: 1971: 1906: 1846: 1807: 1753: 1670: 1602: 1593: 1039: 760: 748: 685: 677: 595: 568: 457: 319: 229: 157: 3477:"Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients" 2702: 5001: 4944: 4889: 4844: 4772: 4693: 4613: 4565: 4521: 4513: 4469: 4461: 4417: 4409: 4370: 4323: 4286: 4278: 4237: 4229: 4188: 4180: 4139: 4129: 4085: 4077: 4036: 4026: 3985: 3977: 3936: 3895: 3887: 3848: 3811: 3770: 3760: 3719: 3711: 3662: 3621: 3613: 3574: 3537: 3529: 3518:"Minding the gap: the underground functions of BRCA1 and BRCA2 at stalled replication forks" 3488: 3447: 3437: 3390: 3341: 3297: 3289: 3248: 3238: 3181: 3173: 3107: 3070: 3060: 3021: 2978: 2932: 2897: 2835: 2827: 2786: 2745: 2737: 2698: 2657: 2647: 2608: 2571: 2532: 2489: 2452: 2442: 2398: 2390: 2349: 2341: 2292: 2284: 2243: 2235: 2194: 2186: 2145: 2052: 2044: 2028: 1963: 1896: 1888: 1838: 1797: 1789: 1678: 1035: 975: 967: 833: 649: 645: 586:, which will in most cases progress to cancer. Other tumors increased in frequency include; 461: 70: 66: 140:
Some rare cancers are strongly associated with hereditary cancer predisposition syndromes.
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Two copies of every gene are present in all cells of the body and each one is called an
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Smith EC (2012). "An overview of hereditary breast and ovarian cancer syndrome".
2576: 2559: 767:. These short repetitive sequences of DNA become unstable, leading to a state of 4849: 4832: 4184: 4015:"MUTYH DNA glycosylase: the rationale for removing undamaged bases from the DNA" 3578: 2957: 1686: 1614: 1477: 1026: 987: 803: 676:
is increased. Other cancers that are inconsistently linked to this syndrome are
421: 4617: 4398:"Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology" 4116:
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M (2012).
3852: 3715: 3700:"Endometrial cancer and Lynch syndrome: clinical and pathologic considerations" 3177: 2134:"The concise handbook of family cancer syndromes. Mayo Familial Cancer Program" 1690:
quicker. Regular breast screening is also recommended for women diagnosed with
571:. Around 1 in 8000 people will have this disease and it has approximately 100% 85:
of developing cancer, but also the development of multiple independent primary
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Galiatsatos P, Foulkes WD (February 2006). "Familial adenomatous polyposis".
172:/pheochromocytoma; renal cell carcinoma of chromophobe, hybrid oncocytic, or 3442: 2865:
P53 in the Clinic: TP53 Germline Mutations: Genetics of Li–Fraumeni Syndrome
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meaning that both breasts are removed), this can often add years onto their
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regulation. Faulty APC causes β-catenin to accumulate in cells and activate
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Macrae F, du Sart D, Nasioulas S (2009). "Familial adenomatous polyposis".
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Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR (July 2009).
1850: 1829:(April 2011). "Clinical management of hereditary breast cancer syndromes". 1811: 4866: 3502: 2944: 2909: 2652: 2560:"Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2" 2159: 1409:
basal cell carcinoma, squamous cell carcinoma, intraepidermal carcinoma
416:. The most prominent manifestations of this disorder are those related to 3346: 3329: 3328:
Keimling M, Volcic M, Csernok A, Wieland B, Dörk T, Wiesmüller L (2011).
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on each strand of DNA do not match. Defective MMR genes allow continuous
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Nimonkar AV, Ozsoy AZ, Genschel J, Modrich P, Kowalczykowski SC (2008).
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sarcomas, breast cancers, brain tumors, and adrenocortical carcinomas
524:(previously known as FANCD1). Inheritance of this syndrome is primarily 33:
is a cancer syndrome in which there are hundreds to thousands of benign
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Oh KS, Imoto K, Emmert S, Tamura D, DiGiovanna JJ, Kraemer KH (2011).
3941: 3924: 540:). Many pathways are coordinated by the FA pathway for this including 26: 2288: 1662: 1398: 1353: 1309: 1304: 1121: 1043: 799: 672:
and papillary serous carcinoma of the peritoneum. In men the risk of
575:. An individual with this disease will have hundreds to thousands of 513: 477: 210: 184:
can identify people who are at risk of a hereditary cancer syndrome.
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Schrag, D.; Kuntz, K. M.; Garber, J. E.; Weeks, J. C. (1997-05-15).
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Most cases of familial paraganglioma are caused by mutations in the
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What is Cancer syndrome or Family cancer syndrome? A Concise Review
2379:"The Fanconi anemia pathway and DNA interstrand cross-link repair" 2273:"Molecular pathogenesis and clinical management of Fanconi anemia" 1455: 1451: 1368: 1322: 1203: 1200: 1071: 1067: 1059: 971: 949: 909: 901: 773: 657: 653: 521: 517: 509: 505: 501: 497: 493: 489: 485: 481: 473: 469: 465: 453: 224:. A heterozygous individual and a person with two normal alleles ( 199: 191: 86: 2888:
Birch JM (July 1994). "Familial cancer syndromes and clusters".
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Inherited genetic condition that predisposes a person to cancer
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genes. In women this disorder primarily increases the risk of
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of $ 100-$ 2000 depending on the type and intricacy of test.
1505:, repairs damage in both transcribed and untranscribed DNA 100:
from turning cancerous. Other genes that may be affected are
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Wong WT, n E, AgrĂł Coleman HR, et al. (February 2007).
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There are other forms of preventive actions, an example for
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Many cancer syndromes are due to an inherited impairment in
921:, a common finding in nevoid basal cell carcinoma syndrome. 1434:
soft tissue sarcoma, colorectal, skin, thyroid, pancreas
528:, but FANCB can be inherited from the maternal or paternal 2969:
Sampson JR, Jones N (2009). "MUTYH-associated polyposis".
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Prevalence of genetic mutations in different ethnic groups
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predispose the affected individuals to the development of
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colorectal, duodenal, ovarian, bladder and skin cancers
3049:"Nevoid basal cell carcinoma syndrome (Gorlin syndrome)" 1698:
due to BRCA mutations can decrease their risk by taking
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Niedernhofer LJ, Bohr VA, Sander M, Kraemer KH (2011).
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International Journal of Oral and Maxillofacial Surgery
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Pathophysiology: functional alterations in human health
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and genes involved in the production of blood vessels (
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Myers, Melanie F.; Bernhardt, Barbara A. (June 2012).
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American Society of Clinical Oncology Educational Book
3137:(14th ed.). Philadelphia: Saunders. p. 555. 1750:
Hereditary Tumors: From Genes to Clinical Consequences
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Allgayer, Heike; Redher, Helga; Fulda, Simone (2009).
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Howel–Evans syndrome of esophageal cancer with tylosis
2091:. Hagerstwon, MD: Lippincott Williams & Wilkins. 1530:skin cancers (basal cell, squamous cell, melanoma) 1038:
that cause xeroderma pigmentosum are associated with
794:(succinate:ubiquinone oxidoreductase) subunit genes ( 365:
Examples of autosomal recessive cancer syndromes are
112:). Common examples of inherited cancer syndromes are 3133:
Henry, Todd; Campell, James; Hawley, Arthur (1969).
254:
Examples of autosomal dominant cancer syndromes are
2078: 2076: 92:Many of these syndromes are caused by mutations in 4988:Thorat, Mangesh A.; Cuzick, Jack (December 2013). 2175:"How the fanconi anemia pathway guards the genome" 2084: 1234:leukemia, liver tumors, solid tumors many areas 785:Hereditary paraganglioma-pheochromocytoma syndrome 2003:"Genetic Testing for Hereditary Cancer Syndromes" 1211:of double strand breaks and daughter strand gaps 280:dysplastic nevus syndrome with familial melanoma 3220: 3218: 3216: 2424: 2422: 1778:"Mechanisms of inherited cancer susceptibility" 239:Less often, syndromes may be transmitted as an 3379:"Recombinational DNA repair and human disease" 2558:Petrucelli N, Daly MB, Feldman GL (May 2010). 2127: 2125: 1870: 1868: 1771: 1769: 945:is very high. The disease is characterized by 2958:https://doi.org/10.1158/1078-0432.CCR-17-0408 2320:Kottemann MC, Smogorzewska A (January 2013). 1537:The acronyms for DNA repair pathways are HRR 213:. Most cancer syndromes are transmitted in a 8: 3225:Lehmann AR, McGibbon D, Stefanini M (2011). 1474:strands of transcriptionally active genes 1090:DNA repair defects and increased cancer risk 567:syndrome that greatly increases the risk of 464:. To date, the genes known to cause FA are: 180:; and sex cord tumors with annular tubules. 96:, genes that are involved in protecting the 3323: 3321: 2222:Tischkowitz MD, Hodgson SV (January 2003). 2083:Anderson, Cindy Lou; Carie A Braun (2007). 1949: 1947: 1945: 1720:mutation and regular screening for cancer. 4111: 4109: 1508:skin cancer (melanoma and non-melanoma) 1222:genes FANCA,B,C,D1,D2,E,F,G,I,J,L,M,N,O,P 1109: 602:. The cause of this disorder is a mutated 4948: 4848: 4697: 4569: 4525: 4473: 4421: 4290: 4241: 4192: 4143: 4133: 4089: 4040: 4030: 3989: 3940: 3899: 3874:Testa JR, Malkin D, Schiffman JD (2013). 3815: 3774: 3764: 3723: 3666: 3625: 3541: 3492: 3451: 3441: 3345: 3301: 3252: 3242: 3185: 3074: 3064: 2839: 2790: 2749: 2661: 2651: 2575: 2456: 2446: 2402: 2353: 2296: 2247: 2198: 2149: 2056: 1900: 1801: 1240:Hereditary nonpolyposis colorectal cancer 1017:disorder characterized by sensitivity to 639:Hereditary breast-ovarian cancer syndrome 296:Hereditary nonpolyposis colorectal cancer 288:hereditary breast–ovarian cancer syndrome 131:hereditary breast-ovarian cancer syndrome 114:hereditary breast-ovarian cancer syndrome 4443: 4441: 4013:Markkanen E, Dorn J, HĂĽbscher U (2013). 2867:. New York: Springer. pp. 167–188. 2703:10.1146/annurev.biochem.74.082803.133243 2634:Drescher KM, Sharma P, Lynch HT (2010). 2138:Journal of the National Cancer Institute 1677:. Another preventive measure is regular 1592: 25: 4547: 4545: 2726:"Inherited colorectal cancer syndromes" 1740: 1376:BER for Tg, FapyG, 5-hC, 5-hU in dsDNA 937:, also known as Gorlin syndrome, is an 256:autoimmune lymphoproliferative syndrome 4990:"Role of aspirin in cancer prevention" 1424:Werner syndrome ATP-dependent helicase 711:, also known as Lynch syndrome, is an 262:(although 85% of cases are sporadic), 4599: 4597: 4495: 4493: 4218:"NTHL1 defines novel cancer syndrome" 3698:Meyer LA, Broaddus RR, Lu KH (2009). 3651:"Cancer in Fanconi anemia, 1927-2001" 2429:Half E, Bercovich D, Rozen P (2009). 2112:Saboowala, Dr Hakim K. (2022-04-10). 1661:is the removal of all or some of the 941:cancer syndrome in which the risk of 763:mutations in regions of DNA known as 709:Hereditary non-polyposis colon cancer 704:Hereditary non-polyposis colon cancer 135:hereditary non-polyposis colon cancer 118:hereditary non-polyposis colon cancer 7: 2482:American Journal of Gastroenterology 2271:Kee Y, D'Andrea AD (November 2012). 1997: 1995: 1993: 1655:Hereditary Breast and Ovarian Cancer 935:Nevoid basal cell carcinoma syndrome 930:Nevoid basal cell carcinoma syndrome 900:disorder caused by mutations in the 634:Hereditary breast and ovarian cancer 324:nevoid basal-cell carcinoma syndrome 4837:The New England Journal of Medicine 2191:10.1146/annurev-genet-102108-134222 4216:Kuiper RP, Hoogerbrugge N (2015). 4118:"Nijmegen breakage syndrome (NBS)" 3481:American Journal of Human Genetics 2902:10.1093/oxfordjournals.bmb.a072913 2132:Lindor NM, Greene MH (July 1998). 1657:would be to go through surgery: A 14: 4807:"Genetic testing for cancer risk" 4606:Nature Reviews. Clinical Oncology 4265:Singh DK, Ahn B, Bohr VA (2009). 4122:Orphanet Journal of Rare Diseases 3753:World Journal of Gastroenterology 3747:Carethers JM, Stoffel EM (2015). 3231:Orphanet Journal of Rare Diseases 3053:Orphanet Journal of Rare Diseases 2971:Best Pract Res Clin Gastroenterol 2525:Best Pract Res Clin Gastroenterol 2277:Journal of Clinical Investigation 2173:Moldovan GL, D'Andrea AD (2009). 747:, cancers of the small bowel and 668:, but also increases the risk of 4518:10.1111/j.1751-1097.2011.00909.x 4328:10.1097/00003086-200009000-00032 2613:10.1111/j.1542-2011.2012.00199.x 2494:10.1111/j.1572-0241.2006.00375.x 2431:"Familial adenomatous polyposis" 2377:Su X, Huang J (September 2011). 1893:10.1111/j.1399-0004.2009.01230.x 1685:then they should have a regular 1406:Helicase likely active in HRR 4466:10.1590/s1415-47572014000200008 4414:10.1016/j.semcancer.2010.10.002 3112:10.1016/j.semcancer.2012.05.005 1681:and check-ups. If a person has 1582:a genetic test if their family 1098:capability. When an inherited 974:, and the product of PTCH is a 919:keratocystic odontogenic tumour 51:familial/family cancer syndrome 4173:Cold Spring Harb Perspect Biol 3377:Thompson LH, Schild D (2002). 2724:Kastrinos F, Syngal S (2011). 1831:J Mammary Gland Biol Neoplasia 1480:(melanoma and non-melanoma) 1021:, massively increased risk of 970:of this disease occurs in the 561:Familial adenomatous polyposis 556:Familial adenomatous polyposis 534:x-linked recessive inheritance 377:, MUTYH-associated polyposis, 284:familial adenomatous polyposis 59:cancer predisposition syndrome 31:Familial adenomatous polyposis 1: 4937:Journal of Genetic Counseling 4686:Journal of Genetic Counseling 3841:Biochem. Biophys. Res. Commun 3817:10.1158/1541-7786.MCR-08-0020 3600:Thompson LH, Hinz JM (2009). 3516:Nagaraju G, Scully R (2007). 3395:10.1016/s0027-5107(02)00224-5 2937:10.1016/s0031-3955(05)70530-7 1172:leukemia, lymphoma, breast 1145:ataxia telangiectasia mutated 832:syndrome primarily caused by 338:(LRCC), hereditary papillary 4765:Journal of Clinical Oncology 4448:Menck CF, Munford V (2014). 4375:10.1016/j.mrfmmm.2005.03.021 4167:Krokan HE, BjørĂĄs M (2013). 3982:10.1016/j.molonc.2008.09.007 3923:Rapp A, Greulich KO (2004). 3892:10.1200/EdBook_AM.2013.33.81 3618:10.1016/j.mrfmmm.2009.02.003 3534:10.1016/j.dnarep.2007.02.020 3422:Proc. Natl. Acad. Sci. U.S.A 2742:10.1097/PPO.0b013e318237e408 2577:10.1097/GIM.0b013e3181d38f2f 1640:Maintaining a healthy weight 1579:mutated genes or chromosomes 1139:Cancers with increased risk 844:(often found in childhood), 420:(production of blood by the 346:-pheochromocytoma syndrome, 334:, hereditary leiomyomatosis 316:multiple osteochondromatosis 312:multiple endocrine neoplasia 234:Knudson's two-hit hypothesis 4850:10.1056/NEJM199705153362022 4185:10.1101/cshperspect.a012583 4064:Patel SG, Ahnen DJ (2012). 3579:10.1016/j.ygyno.2014.09.009 2685:Kunkel TA, Erie DA (2005). 2228:Journal of Medical Genetics 1526:Translesion synthesis (TLS) 1516:(also called polymerase H) 304:juvenile polyposis syndrome 260:Beckwith–Wiedemann syndrome 5129: 5043:Reference, Genetics Home. 4737:Reference, Genetics Home. 4657:"What is genetic testing?" 4655:Reference, Genetics Home. 4618:10.1038/nrclinonc.2015.173 3853:10.1016/j.bbrc.2005.03.192 3716:10.1177/107327480901600103 3178:10.1001/archopht.125.2.239 3100:Seminars in Cancer Biology 1776:Hodgson S (January 2008). 1559:nucleotide excision repair 1547:non-homologous end joining 1539:homologous recombinational 1349:Nijmegen breakage syndrome 1136:Repair pathways affected* 1080:nucleotide excision repair 984:hedgehog signaling pathway 892:MUTYH-associated polyposis 868:gene, p53, is involved in 769:microsatellite instability 542:nucleotide excision repair 144:should be considered with 47:hereditary cancer syndrome 18: 5006:10.1007/s11912-013-0351-3 4950:10.1007/s10897-013-9629-8 4699:10.1007/s10897-012-9500-3 4283:10.1007/s10522-008-9205-z 4082:10.1007/s11894-012-0280-6 3294:10.1016/j.mad.2011.06.004 3165:Archives of Ophthalmology 2983:10.1016/j.bpg.2009.03.006 2601:J Midwifery Womens Health 2537:10.1016/j.bpg.2009.02.010 2395:10.1007/s13238-011-1098-y 2049:10.1016/j.pop.2009.04.006 2007:National Cancer Institute 1968:10.1007/s10689-012-9584-9 1929:National Cancer Institute 1843:10.1007/s10911-011-9200-x 1468:Transcription coupled NER 1138: 1135: 1129: 999:Von Hippel–Lindau disease 994:Von Hippel–Lindau disease 630:(programmed cell death). 379:Rothmund–Thomson syndrome 356:von Hippel–Lindau disease 258:(Canale-Smith syndrome), 156:; fallopian tube/primary 55:inherited cancer syndrome 4994:Current Oncology Reports 4777:10.1200/JCO.2015.63.0996 4316:Clin. Orthop. Relat. Res 4234:10.18632/oncotarget.5864 4032:10.3389/fgene.2013.00018 3766:10.3748/wjg.v21.i31.9253 2890:British Medical Bulletin 2832:10.1177/1947601911413466 1637:A healthy, balanced diet 1577:can be used to identify 1197:breast cancer 1 & 2 1132: 862:adrenocortical carcinoma 670:fallopian tube carcinoma 550:homologous recombination 442:squamous cell carcinomas 430:myelodysplastic syndrome 414:congenital abnormalities 166:medullary thyroid cancer 146:adrenocortical carcinoma 5049:Genetics Home Reference 4743:Genetics Home Reference 4661:Genetics Home Reference 3929:Journal of Cell Science 3443:10.1073/pnas.0809380105 3227:"Xeroderma pigmentosum" 2925:Pediatr. Clin. North Am 2814:Malkin D (April 2011). 2151:10.1093/jnci/90.14.1039 1752:. Weinheim: Wiley-VCH. 1646:Staying safe under the 1154:Different mutations in 1019:ultra-violet (UV) light 959:Odontogenic keratocysts 792:succinate dehydrogenase 606:, which is involved in 264:Birt–Hogg–DubĂ© syndrome 182:Primary care physicians 4169:"Base excision repair" 4135:10.1186/1750-1172-7-13 4070:Curr Gastroenterol Rep 3244:10.1186/1750-1172-6-70 3066:10.1186/1750-1172-3-32 3026:10.1054/ijom.2003.0435 2816:"Li-fraumeni syndrome" 2792:10.1001/jama.292.8.943 2448:10.1186/1750-1172-4-22 1669:is removing a breast ( 1598: 1428:HRR, NHEJ, long patch 1278:sebaceous adenomas) 1025:and increased risk of 926: 888:for more information. 780: 698:tumor suppressor genes 538:interstrand crosslinks 434:acute myeloid leukemia 328:Peutz–Jeghers syndrome 206: 197: 94:tumor suppressor genes 42: 5108:Syndromes with tumors 2687:"DNA mismatch repair" 2118:. Dr.Hakim Saboowala. 1782:J Zhejiang Univ Sci B 1596: 1555:translesion synthesis 1486:Xeroderma pigmentosum 1440:Xeroderma pigmentosum 1011:Xeroderma pigmentosum 1006:Xeroderma pigmentosum 913: 777: 719:(MMR) genes, notably 612:transcription factors 598:, thyroid tumors and 546:translesion synthesis 387:Xeroderma pigmentosum 367:ataxia–telangiectasia 290:, hereditary diffuse 203: 195: 29: 4506:Photochem. Photobiol 3347:10.1096/fj.11-185546 2029:Gadalla, Shahinaz M. 1794:10.1631/jzus.B073001 1551:base excision repair 1464:XPA XPB XPD XPF XPG 1392:basal-cell carcinoma 1285:Li-Fraumeni syndrome 943:basal cell carcinoma 886:Li-Fraumeni Syndrome 842:soft tissue sarcomas 826:Li-Fraumeni syndrome 821:Li-Fraumeni syndrome 308:Li–Fraumeni syndrome 245:homozygous recessive 4460:(1 Suppl): 220–33. 3434:2008PNAS..10516906N 3047:Lo Muzio L (2008). 2653:10.1155/2010/170432 2435:Orphanet J Rare Dis 2346:10.1038/nature11863 2338:2013Natur.493..356K 2027:Korde, Larissa A.; 1363:lymphoid cancers 1126: 1015:autosomal recessive 986:, known to control 898:autosomal recessive 717:DNA mismatch repair 688:and cancers of the 526:autosomal recessive 410:bone marrow failure 326:(Gorlin syndrome), 241:autosomal recessive 178:sebaceous carcinoma 69:in which inherited 5113:Hereditary cancers 4894:10.1111/codi.12778 4882:Colorectal Disease 4811:Cancer Research UK 4571:10.1002/humu.22462 4402:Semin. Cancer Biol 4396:Monnat RJ (2010). 3935:(Pt 21): 4935–45. 3798:Kastan MB (2008). 3668:10.1002/cncr.11046 3522:DNA Repair (Amst.) 2691:Annu. Rev. Biochem 2640:Clin. Dev. Immunol 2240:10.1136/jmg.40.1.1 1730:Family aggregation 1648:sun's harmful rays 1625:Preventive actions 1599: 1543:sub-pathway of HRR 1520:DNA polymerase eta 1503:Global genomic NER 1384:endometrial cancer 1327:MUTYH glycosylase 1214:breast, ovarian 1110: 939:autosomal dominant 927: 830:autosomal dominant 781: 737:endometrial cancer 713:autosomal dominant 682:male breast cancer 643:autosomal dominant 616:cell proliferation 565:autosomal dominant 458:cafe au lait spots 352:tuberous sclerosis 298:(Lynch syndrome), 218:autosomal dominant 207: 198: 188:Genetics of cancer 137:(Lynch syndrome). 120:(Lynch syndrome). 43: 5045:"Werner syndrome" 4843:(20): 1465–1471. 4771:(31): 3660–3667. 3942:10.1242/jcs.01355 3649:Alter BP (2003). 3475:German J (1969). 3144:978-0-7216-2921-6 2874:978-1-4614-3676-8 2863:Bakry, D (2013). 2224:"Fanconi anaemia" 2098:978-0-7817-6250-2 1713:Werner's Syndrome 1671:double mastectomy 1570:Genetic screening 1534: 1533: 1040:neurodegeneration 1036:genetic mutations 990:and development. 870:cell cycle arrest 749:pancreatic cancer 686:colorectal cancer 678:pancreatic cancer 650:genetic mutations 582:throughout their 569:colorectal cancer 424:); these include 340:renal cell cancer 336:renal cell cancer 320:neurofibromatosis 230:germline mutation 158:peritoneal cancer 71:genetic mutations 5120: 5088: 5087: 5085: 5084: 5075:. Archived from 5073:CancerCenter.com 5065: 5059: 5058: 5056: 5055: 5040: 5034: 5033: 4985: 4979: 4978: 4952: 4928: 4922: 4921: 4877: 4871: 4870: 4852: 4828: 4822: 4821: 4819: 4818: 4803: 4797: 4796: 4759: 4753: 4752: 4750: 4749: 4734: 4728: 4727: 4701: 4677: 4671: 4670: 4668: 4667: 4652: 4646: 4645: 4601: 4592: 4591: 4573: 4549: 4540: 4539: 4529: 4497: 4488: 4487: 4477: 4454:Genet. Mol. Biol 4445: 4436: 4435: 4425: 4393: 4387: 4386: 4357:Bohr VA (2005). 4354: 4348: 4347: 4311: 4305: 4304: 4294: 4262: 4256: 4255: 4245: 4228:(33): 34069–70. 4213: 4207: 4206: 4196: 4164: 4158: 4157: 4147: 4137: 4113: 4104: 4103: 4093: 4061: 4055: 4054: 4044: 4034: 4010: 4004: 4003: 3993: 3961: 3955: 3954: 3944: 3920: 3914: 3913: 3903: 3871: 3865: 3864: 3836: 3830: 3829: 3819: 3795: 3789: 3788: 3778: 3768: 3744: 3738: 3737: 3727: 3695: 3689: 3688: 3670: 3646: 3640: 3639: 3629: 3597: 3591: 3590: 3562: 3556: 3555: 3545: 3513: 3507: 3506: 3496: 3472: 3466: 3465: 3455: 3445: 3428:(44): 16906–11. 3413: 3407: 3406: 3374: 3368: 3367: 3349: 3325: 3316: 3315: 3305: 3282:Mech. Ageing Dev 3273: 3267: 3266: 3256: 3246: 3222: 3211: 3210: 3208: 3207: 3198:. Archived from 3189: 3155: 3149: 3148: 3130: 3124: 3123: 3095: 3089: 3088: 3078: 3068: 3044: 3038: 3037: 3009: 3003: 3002: 2966: 2960: 2955: 2949: 2948: 2920: 2914: 2913: 2885: 2879: 2878: 2860: 2854: 2853: 2843: 2811: 2805: 2804: 2794: 2770: 2764: 2763: 2753: 2721: 2715: 2714: 2682: 2676: 2675: 2665: 2655: 2631: 2625: 2624: 2596: 2590: 2589: 2579: 2555: 2549: 2548: 2520: 2514: 2513: 2477: 2471: 2470: 2460: 2450: 2426: 2417: 2416: 2406: 2374: 2368: 2367: 2357: 2332:(7432): 356–63. 2317: 2311: 2310: 2300: 2289:10.1172/JCI58321 2283:(11): 3799–806. 2268: 2262: 2261: 2251: 2219: 2213: 2212: 2202: 2179:Annu. Rev. Genet 2170: 2164: 2163: 2153: 2129: 2120: 2119: 2109: 2103: 2102: 2090: 2080: 2071: 2070: 2060: 2024: 2018: 2017: 2015: 2014: 1999: 1988: 1987: 1951: 1940: 1939: 1937: 1936: 1921: 1915: 1914: 1904: 1872: 1863: 1862: 1822: 1816: 1815: 1805: 1773: 1764: 1763: 1745: 1683:Lynch's syndrome 1679:cancer screening 1634:Regular exercise 1130:DNA repair gene 1127: 976:tumor suppressor 968:genetic mutation 966:. The causative 646:genetic disorder 462:hypopigmentation 150:carcinoid tumors 67:genetic disorder 5128: 5127: 5123: 5122: 5121: 5119: 5118: 5117: 5093: 5092: 5091: 5082: 5080: 5067: 5066: 5062: 5053: 5051: 5042: 5041: 5037: 4987: 4986: 4982: 4930: 4929: 4925: 4879: 4878: 4874: 4830: 4829: 4825: 4816: 4814: 4805: 4804: 4800: 4761: 4760: 4756: 4747: 4745: 4736: 4735: 4731: 4679: 4678: 4674: 4665: 4663: 4654: 4653: 4649: 4603: 4602: 4595: 4551: 4550: 4543: 4499: 4498: 4491: 4447: 4446: 4439: 4395: 4394: 4390: 4356: 4355: 4351: 4322:(378): 213–23. 4313: 4312: 4308: 4264: 4263: 4259: 4215: 4214: 4210: 4166: 4165: 4161: 4115: 4114: 4107: 4063: 4062: 4058: 4012: 4011: 4007: 3963: 3962: 3958: 3922: 3921: 3917: 3873: 3872: 3868: 3838: 3837: 3833: 3804:Mol. Cancer Res 3797: 3796: 3792: 3759:(31): 9253–61. 3746: 3745: 3741: 3697: 3696: 3692: 3648: 3647: 3643: 3599: 3598: 3594: 3564: 3563: 3559: 3515: 3514: 3510: 3474: 3473: 3469: 3415: 3414: 3410: 3376: 3375: 3371: 3340:(11): 3849–60. 3327: 3326: 3319: 3275: 3274: 3270: 3224: 3223: 3214: 3205: 3203: 3157: 3156: 3152: 3145: 3132: 3131: 3127: 3097: 3096: 3092: 3046: 3045: 3041: 3011: 3010: 3006: 2968: 2967: 2963: 2956: 2952: 2922: 2921: 2917: 2887: 2886: 2882: 2875: 2862: 2861: 2857: 2813: 2812: 2808: 2772: 2771: 2767: 2723: 2722: 2718: 2684: 2683: 2679: 2633: 2632: 2628: 2598: 2597: 2593: 2557: 2556: 2552: 2522: 2521: 2517: 2479: 2478: 2474: 2428: 2427: 2420: 2376: 2375: 2371: 2319: 2318: 2314: 2270: 2269: 2265: 2221: 2220: 2216: 2172: 2171: 2167: 2144:(14): 1039–71. 2131: 2130: 2123: 2111: 2110: 2106: 2099: 2082: 2081: 2074: 2026: 2025: 2021: 2012: 2010: 2001: 2000: 1991: 1956:Familial Cancer 1953: 1952: 1943: 1934: 1932: 1923: 1922: 1918: 1874: 1873: 1866: 1824: 1823: 1819: 1775: 1774: 1767: 1760: 1747: 1746: 1742: 1738: 1726: 1708: 1696:prostate cancer 1675:life expectancy 1627: 1584:medical history 1575:Genetic testing 1572: 1563:mismatch repair 1415:Werner syndrome 1388:duodenal cancer 1314:HRR and NHEJ 1092: 1078:. XPA-XPF are 1008: 996: 932: 894: 823: 788: 765:microsatellites 706: 674:prostate cancer 636: 624:differentiation 558: 426:aplastic anemia 403: 395: 383:Werner syndrome 332:prostate cancer 276:Cowden syndrome 268:Carney syndrome 190: 142:Genetic testing 126: 73:in one or more 63:cancer syndrome 24: 17: 12: 11: 5: 5126: 5124: 5116: 5115: 5110: 5105: 5095: 5094: 5090: 5089: 5060: 5035: 5000:(6): 533–540. 4980: 4943:(2): 187–191. 4923: 4872: 4823: 4798: 4754: 4729: 4692:(3): 357–360. 4672: 4647: 4593: 4541: 4489: 4437: 4388: 4369:(1–2): 252–9. 4349: 4306: 4271:Biogerontology 4257: 4208: 4179:(4): a012583. 4159: 4105: 4056: 4005: 3976:(4): 296–316. 3956: 3915: 3866: 3831: 3790: 3739: 3704:Cancer Control 3690: 3641: 3612:(1–2): 54–72. 3592: 3567:Gynecol. Oncol 3557: 3528:(7): 1018–31. 3508: 3487:(2): 196–227. 3467: 3408: 3389:(1–2): 49–78. 3369: 3317: 3288:(6–7): 340–7. 3268: 3212: 3150: 3143: 3125: 3090: 3039: 3004: 2961: 2950: 2931:(4): 791–808. 2915: 2880: 2873: 2855: 2806: 2765: 2730:Cancer Journal 2716: 2677: 2626: 2591: 2550: 2531:(2): 197–207. 2515: 2472: 2418: 2369: 2312: 2263: 2214: 2165: 2121: 2104: 2097: 2072: 2043:(3): 471–488. 2031:(2017-05-02). 2019: 1989: 1941: 1916: 1864: 1817: 1765: 1758: 1739: 1737: 1734: 1733: 1732: 1725: 1722: 1717:Ashkenazi Jews 1707: 1704: 1692:BRCA mutations 1651: 1650: 1644: 1641: 1638: 1635: 1626: 1623: 1571: 1568: 1567: 1566: 1532: 1531: 1528: 1523: 1517: 1510: 1509: 1506: 1500: 1497: 1482: 1481: 1475: 1465: 1462: 1436: 1435: 1432: 1426: 1421: 1411: 1410: 1407: 1404: 1401: 1395: 1394: 1377: 1374: 1371: 1365: 1364: 1361: 1356: 1351: 1345: 1344: 1341: 1328: 1325: 1319: 1318: 1315: 1312: 1307: 1301: 1300: 1297: 1294: 1291: 1281: 1280: 1274: 1269: 1255: 1236: 1235: 1232: 1226: 1223: 1220:Fanconi anemia 1216: 1215: 1212: 1206: 1198: 1194: 1193: 1190: 1187: 1180: 1178:Bloom syndrome 1174: 1173: 1170: 1152: 1147: 1141: 1140: 1137: 1134: 1131: 1120:that increase 1091: 1088: 1007: 1004: 995: 992: 980:cell signaling 931: 928: 893: 890: 822: 819: 787: 782: 745:ovarian cancer 741:stomach cancer 705: 702: 666:ovarian cancer 635: 632: 600:desmoid tumors 557: 554: 438:Hepatic tumors 406:Fanconi anemia 402: 401:Fanconi anemia 399: 394: 391: 375:Fanconi anemia 371:Bloom syndrome 348:retinoblastoma 292:gastric cancer 189: 186: 162:leiomyosarcoma 154:gastric cancer 125: 122: 15: 13: 10: 9: 6: 4: 3: 2: 5125: 5114: 5111: 5109: 5106: 5104: 5101: 5100: 5098: 5079:on 2018-02-21 5078: 5074: 5070: 5064: 5061: 5050: 5046: 5039: 5036: 5031: 5027: 5023: 5019: 5015: 5011: 5007: 5003: 4999: 4995: 4991: 4984: 4981: 4976: 4972: 4968: 4964: 4960: 4956: 4951: 4946: 4942: 4938: 4934: 4927: 4924: 4919: 4915: 4911: 4907: 4903: 4899: 4895: 4891: 4887: 4883: 4876: 4873: 4868: 4864: 4860: 4856: 4851: 4846: 4842: 4838: 4834: 4827: 4824: 4812: 4808: 4802: 4799: 4794: 4790: 4786: 4782: 4778: 4774: 4770: 4766: 4758: 4755: 4744: 4740: 4733: 4730: 4725: 4721: 4717: 4713: 4709: 4705: 4700: 4695: 4691: 4687: 4683: 4676: 4673: 4662: 4658: 4651: 4648: 4643: 4639: 4635: 4631: 4627: 4623: 4619: 4615: 4611: 4607: 4600: 4598: 4594: 4589: 4585: 4581: 4577: 4572: 4567: 4564:(1): 117–28. 4563: 4559: 4555: 4548: 4546: 4542: 4537: 4533: 4528: 4523: 4519: 4515: 4512:(3): 729–33. 4511: 4507: 4503: 4496: 4494: 4490: 4485: 4481: 4476: 4471: 4467: 4463: 4459: 4455: 4451: 4444: 4442: 4438: 4433: 4429: 4424: 4419: 4415: 4411: 4408:(5): 329–39. 4407: 4403: 4399: 4392: 4389: 4384: 4380: 4376: 4372: 4368: 4364: 4360: 4353: 4350: 4345: 4341: 4337: 4333: 4329: 4325: 4321: 4317: 4310: 4307: 4302: 4298: 4293: 4288: 4284: 4280: 4277:(3): 235–52. 4276: 4272: 4268: 4261: 4258: 4253: 4249: 4244: 4239: 4235: 4231: 4227: 4223: 4219: 4212: 4209: 4204: 4200: 4195: 4190: 4186: 4182: 4178: 4174: 4170: 4163: 4160: 4155: 4151: 4146: 4141: 4136: 4131: 4127: 4123: 4119: 4112: 4110: 4106: 4101: 4097: 4092: 4087: 4083: 4079: 4076:(5): 428–38. 4075: 4071: 4067: 4060: 4057: 4052: 4048: 4043: 4038: 4033: 4028: 4024: 4020: 4016: 4009: 4006: 4001: 3997: 3992: 3987: 3983: 3979: 3975: 3971: 3967: 3960: 3957: 3952: 3948: 3943: 3938: 3934: 3930: 3926: 3919: 3916: 3911: 3907: 3902: 3897: 3893: 3889: 3885: 3881: 3877: 3870: 3867: 3862: 3858: 3854: 3850: 3847:(3): 868–80. 3846: 3842: 3835: 3832: 3827: 3823: 3818: 3813: 3810:(4): 517–24. 3809: 3805: 3801: 3794: 3791: 3786: 3782: 3777: 3772: 3767: 3762: 3758: 3754: 3750: 3743: 3740: 3735: 3731: 3726: 3721: 3717: 3713: 3709: 3705: 3701: 3694: 3691: 3686: 3682: 3678: 3674: 3669: 3664: 3661:(2): 425–40. 3660: 3656: 3652: 3645: 3642: 3637: 3633: 3628: 3623: 3619: 3615: 3611: 3607: 3603: 3596: 3593: 3588: 3584: 3580: 3576: 3572: 3568: 3561: 3558: 3553: 3549: 3544: 3539: 3535: 3531: 3527: 3523: 3519: 3512: 3509: 3504: 3500: 3495: 3490: 3486: 3482: 3478: 3471: 3468: 3463: 3459: 3454: 3449: 3444: 3439: 3435: 3431: 3427: 3423: 3419: 3412: 3409: 3404: 3400: 3396: 3392: 3388: 3384: 3380: 3373: 3370: 3365: 3361: 3357: 3353: 3348: 3343: 3339: 3335: 3334:FASEB Journal 3331: 3324: 3322: 3318: 3313: 3309: 3304: 3299: 3295: 3291: 3287: 3283: 3279: 3272: 3269: 3264: 3260: 3255: 3250: 3245: 3240: 3236: 3232: 3228: 3221: 3219: 3217: 3213: 3202:on 2008-12-12 3201: 3197: 3193: 3188: 3183: 3179: 3175: 3172:(2): 239–45. 3171: 3167: 3166: 3161: 3154: 3151: 3146: 3140: 3136: 3129: 3126: 3121: 3117: 3113: 3109: 3105: 3101: 3094: 3091: 3086: 3082: 3077: 3072: 3067: 3062: 3058: 3054: 3050: 3043: 3040: 3035: 3031: 3027: 3023: 3020:(2): 117–24. 3019: 3015: 3008: 3005: 3000: 2996: 2992: 2988: 2984: 2980: 2977:(2): 209–18. 2976: 2972: 2965: 2962: 2959: 2954: 2951: 2946: 2942: 2938: 2934: 2930: 2926: 2919: 2916: 2911: 2907: 2903: 2899: 2896:(3): 624–39. 2895: 2891: 2884: 2881: 2876: 2870: 2866: 2859: 2856: 2851: 2847: 2842: 2837: 2833: 2829: 2826:(4): 475–84. 2825: 2821: 2817: 2810: 2807: 2802: 2798: 2793: 2788: 2785:(8): 943–51. 2784: 2780: 2776: 2769: 2766: 2761: 2757: 2752: 2747: 2743: 2739: 2736:(6): 405–15. 2735: 2731: 2727: 2720: 2717: 2712: 2708: 2704: 2700: 2696: 2692: 2688: 2681: 2678: 2673: 2669: 2664: 2659: 2654: 2649: 2645: 2641: 2637: 2630: 2627: 2622: 2618: 2614: 2610: 2607:(6): 577–84. 2606: 2602: 2595: 2592: 2587: 2583: 2578: 2573: 2570:(5): 245–59. 2569: 2565: 2561: 2554: 2551: 2546: 2542: 2538: 2534: 2530: 2526: 2519: 2516: 2511: 2507: 2503: 2499: 2495: 2491: 2488:(2): 385–98. 2487: 2483: 2476: 2473: 2468: 2464: 2459: 2454: 2449: 2444: 2440: 2436: 2432: 2425: 2423: 2419: 2414: 2410: 2405: 2400: 2396: 2392: 2389:(9): 704–11. 2388: 2384: 2380: 2373: 2370: 2365: 2361: 2356: 2351: 2347: 2343: 2339: 2335: 2331: 2327: 2323: 2316: 2313: 2308: 2304: 2299: 2294: 2290: 2286: 2282: 2278: 2274: 2267: 2264: 2259: 2255: 2250: 2245: 2241: 2237: 2233: 2229: 2225: 2218: 2215: 2210: 2206: 2201: 2196: 2192: 2188: 2184: 2180: 2176: 2169: 2166: 2161: 2157: 2152: 2147: 2143: 2139: 2135: 2128: 2126: 2122: 2117: 2116: 2108: 2105: 2100: 2094: 2089: 2088: 2079: 2077: 2073: 2068: 2064: 2059: 2054: 2050: 2046: 2042: 2038: 2034: 2030: 2023: 2020: 2008: 2004: 1998: 1996: 1994: 1990: 1985: 1981: 1977: 1973: 1969: 1965: 1961: 1957: 1950: 1948: 1946: 1942: 1930: 1926: 1920: 1917: 1912: 1908: 1903: 1898: 1894: 1890: 1886: 1882: 1878: 1871: 1869: 1865: 1860: 1856: 1852: 1848: 1844: 1840: 1836: 1832: 1828: 1821: 1818: 1813: 1809: 1804: 1799: 1795: 1791: 1787: 1783: 1779: 1772: 1770: 1766: 1761: 1759:9783527320288 1755: 1751: 1744: 1741: 1735: 1731: 1728: 1727: 1723: 1721: 1718: 1714: 1705: 1703: 1701: 1697: 1693: 1688: 1684: 1680: 1676: 1672: 1668: 1664: 1660: 1656: 1649: 1645: 1642: 1639: 1636: 1633: 1632: 1631: 1624: 1622: 1618: 1616: 1612: 1608: 1604: 1595: 1591: 1589: 1585: 1580: 1576: 1569: 1564: 1560: 1556: 1552: 1548: 1544: 1540: 1536: 1535: 1529: 1527: 1524: 1521: 1518: 1515: 1512: 1511: 1507: 1504: 1501: 1498: 1495: 1491: 1487: 1484: 1483: 1479: 1476: 1473: 1469: 1466: 1463: 1461: 1457: 1453: 1449: 1445: 1441: 1438: 1437: 1433: 1431: 1427: 1425: 1422: 1420: 1416: 1413: 1412: 1408: 1405: 1402: 1400: 1397: 1396: 1393: 1389: 1385: 1381: 1378: 1375: 1372: 1370: 1367: 1366: 1362: 1360: 1357: 1355: 1352: 1350: 1347: 1346: 1342: 1340: 1336: 1332: 1329: 1326: 1324: 1321: 1320: 1316: 1313: 1311: 1308: 1306: 1303: 1302: 1298: 1295: 1292: 1290: 1286: 1283: 1282: 1279: 1275: 1273: 1270: 1268: 1265: 1262: 1259: 1256: 1254: 1251: 1248: 1245: 1241: 1238: 1237: 1233: 1231: 1227: 1224: 1221: 1218: 1217: 1213: 1210: 1207: 1205: 1202: 1199: 1196: 1195: 1191: 1188: 1185: 1181: 1179: 1176: 1175: 1171: 1169: 1165: 1161: 1157: 1153: 1151: 1148: 1146: 1143: 1142: 1128: 1125: 1123: 1119: 1115: 1108: 1106: 1105:DNA synthesis 1101: 1097: 1089: 1087: 1085: 1081: 1077: 1073: 1069: 1065: 1061: 1057: 1053: 1049: 1045: 1041: 1037: 1032: 1028: 1024: 1020: 1016: 1012: 1005: 1003: 1000: 993: 991: 989: 985: 981: 977: 973: 969: 965: 960: 955: 951: 948: 944: 940: 936: 929: 924: 923:H&E stain 920: 916: 912: 908: 906: 903: 899: 891: 889: 887: 883: 879: 875: 871: 867: 863: 859: 855: 851: 850:breast cancer 847: 843: 839: 835: 831: 827: 820: 818: 816: 811: 809: 805: 801: 797: 793: 786: 783: 776: 772: 770: 766: 762: 758: 754: 750: 746: 742: 738: 734: 730: 726: 722: 718: 714: 710: 703: 701: 699: 695: 691: 687: 683: 679: 675: 671: 667: 663: 659: 655: 651: 647: 644: 640: 633: 631: 629: 625: 621: 617: 613: 609: 605: 601: 597: 593: 589: 585: 581: 578: 574: 570: 566: 562: 555: 553: 551: 547: 543: 539: 535: 531: 527: 523: 519: 515: 511: 507: 503: 499: 495: 491: 487: 483: 479: 475: 471: 467: 463: 459: 455: 451: 447: 443: 439: 435: 431: 427: 423: 419: 418:hematopoeisis 415: 411: 407: 400: 398: 392: 390: 388: 384: 380: 376: 372: 368: 363: 361: 357: 353: 349: 345: 344:paraganglioma 342:, hereditary 341: 337: 333: 329: 325: 321: 317: 313: 309: 305: 301: 297: 293: 289: 285: 281: 277: 273: 269: 265: 261: 257: 252: 250: 246: 242: 237: 235: 231: 227: 223: 219: 216: 212: 202: 194: 187: 185: 183: 179: 175: 171: 170:paraganglioma 167: 163: 159: 155: 151: 147: 143: 138: 136: 132: 123: 121: 119: 115: 111: 107: 103: 99: 95: 90: 88: 84: 83:lifetime risk 80: 76: 72: 68: 65:, etc.) is a 64: 60: 56: 52: 48: 40: 36: 32: 28: 22: 5081:. Retrieved 5077:the original 5072: 5063: 5052:. Retrieved 5048: 5038: 4997: 4993: 4983: 4940: 4936: 4926: 4888:(1): 38–46. 4885: 4881: 4875: 4840: 4836: 4826: 4815:. Retrieved 4813:. 2015-06-02 4810: 4801: 4768: 4764: 4757: 4746:. Retrieved 4742: 4732: 4689: 4685: 4675: 4664:. Retrieved 4660: 4650: 4612:(1): 41–54. 4609: 4605: 4561: 4557: 4509: 4505: 4457: 4453: 4405: 4401: 4391: 4366: 4362: 4352: 4319: 4315: 4309: 4274: 4270: 4260: 4225: 4221: 4211: 4176: 4172: 4162: 4125: 4121: 4073: 4069: 4059: 4022: 4018: 4008: 3973: 3969: 3959: 3932: 3928: 3918: 3883: 3879: 3869: 3844: 3840: 3834: 3807: 3803: 3793: 3756: 3752: 3742: 3710:(1): 14–22. 3707: 3703: 3693: 3658: 3654: 3644: 3609: 3605: 3595: 3570: 3566: 3560: 3525: 3521: 3511: 3484: 3480: 3470: 3425: 3421: 3411: 3386: 3382: 3372: 3337: 3333: 3285: 3281: 3271: 3234: 3230: 3204:. Retrieved 3200:the original 3169: 3163: 3153: 3134: 3128: 3106:(1): 26–37. 3103: 3099: 3093: 3056: 3052: 3042: 3017: 3013: 3007: 2974: 2970: 2964: 2953: 2928: 2924: 2918: 2893: 2889: 2883: 2864: 2858: 2823: 2820:Genes Cancer 2819: 2809: 2782: 2778: 2768: 2733: 2729: 2719: 2694: 2690: 2680: 2643: 2639: 2629: 2604: 2600: 2594: 2567: 2563: 2553: 2528: 2524: 2518: 2485: 2481: 2475: 2438: 2434: 2386: 2383:Protein Cell 2382: 2372: 2329: 2325: 2315: 2280: 2276: 2266: 2231: 2227: 2217: 2182: 2178: 2168: 2141: 2137: 2114: 2107: 2086: 2040: 2037:Primary Care 2036: 2022: 2011:. Retrieved 2009:. 2013-04-22 2006: 1959: 1955: 1933:. Retrieved 1931:. 2015-04-22 1928: 1919: 1884: 1880: 1837:(1): 17–25. 1834: 1830: 1820: 1785: 1781: 1749: 1743: 1709: 1665:, whereas a 1659:hysterectomy 1652: 1628: 1619: 1603:consultation 1600: 1588:ethnic group 1573: 1541:repair, SSA 1470:repairs the 1380:Colon cancer 1337:paired with 1277: 1155: 1111: 1093: 1027:skin cancers 1009: 997: 978:involved in 933: 895: 881: 865: 854:brain cancer 846:osteosarcoma 824: 812: 789: 779:generations. 707: 637: 614:involved in 563:(FAP) is an 559: 530:x-chromosome 404: 396: 364: 360:Wilm's tumor 253: 249:heterozygous 238: 222:heterozygous 208: 139: 127: 110:angiogenesis 91: 62: 58: 54: 50: 46: 44: 21:Oncogenomics 4019:Front Genet 2697:: 681–710. 2234:(1): 1–10. 1962:(1): 1–18. 1887:(1): 1–18. 1881:Clin. Genet 1687:colonoscopy 1643:Not smoking 1615:buccal swab 1607:body fluids 1478:skin cancer 1472:transcribed 1225:FANCA etc. 988:cell growth 954:keratocysts 422:bone marrow 330:, familial 270:, familial 176:histology; 5097:Categories 5083:2018-02-20 5054:2018-02-20 4817:2018-02-20 4748:2018-02-20 4666:2018-02-20 4558:Hum. Mutat 4363:Mutat. Res 4222:Oncotarget 3606:Mutat. Res 3573:(1): 3–7. 3383:Mutat. Res 3206:2008-10-22 2564:Genet. Med 2185:: 223–49. 2013:2018-02-19 1935:2018-02-20 1925:"Genetics" 1827:Domchek SM 1825:Clark AS, 1788:(1): 1–4. 1736:References 1667:mastectomy 1114:DNA repair 1112:Inherited 1096:DNA repair 1084:polymerase 947:basal cell 915:Micrograph 905:DNA repair 874:DNA repair 815:imprinting 648:caused by 596:carcinomas 590:, adrenal 573:penetrance 450:oropharynx 322:type 1/2, 314:type 1/2, 226:homozygous 174:oncocytoma 152:; diffuse 124:Background 102:DNA repair 5014:1534-6269 4959:1573-3599 4918:205027427 4902:1463-1318 4859:0028-4793 4785:1527-7755 4708:1573-3599 4626:1759-4782 3970:Mol Oncol 3886:: 81–90. 1499:XPC, XPE 1354:NBS (NBN) 1317:breast 1118:mutations 972:PTCH gene 878:apoptosis 858:leukaemia 838:TP53 gene 834:mutations 757:insertion 628:apoptosis 620:migration 608:β-catenin 446:esophagus 215:mendelian 106:oncogenes 5103:Oncology 5030:40187047 5022:24114189 4975:15371573 4967:23881471 4910:25213040 4793:26324357 4724:18281938 4716:22441809 4642:24456816 4634:26483301 4580:24130121 4536:21388382 4484:24764756 4432:20934517 4383:15916783 4344:36781050 4336:10986997 4301:19083132 4252:26431160 4203:23545420 4154:22373003 4100:22864806 4051:23450852 4000:19383352 3951:15367581 3910:23714463 3861:15865943 3826:18403632 3785:26309352 3734:19078925 3685:38251423 3677:12518367 3636:19622404 3587:25238946 3552:17379580 3462:18971343 3403:12427531 3364:24698475 3356:21778326 3312:21708183 3263:22044607 3196:17296901 3120:22659535 3085:19032739 3034:15050066 2999:24117301 2991:19414147 2850:21779515 2801:15328326 2760:22157284 2711:15952900 2672:20631828 2646:: 1–13. 2621:23050669 2586:20216074 2545:19414146 2502:16454848 2467:19822006 2413:21948210 2364:23325218 2307:23114602 2258:12525534 2209:19686080 2067:19616151 1984:14426194 1976:23377869 1911:19659756 1859:21417924 1851:21360002 1812:18196605 1724:See also 1522:(Pol η) 1339:8-oxo-dG 1228:HRR and 1184:helicase 1133:Protein 1100:mutation 1031:melanoma 964:rib cage 917:showing 761:deletion 604:APC gene 592:adenomas 588:osteomas 580:adenomas 393:Examples 294:(HDGC), 272:chordoma 35:adenomas 4867:9148160 4588:2854418 4527:3082610 4475:3983582 4423:3040982 4292:2713741 4243:4741436 4194:3683898 4145:3314554 4091:3448005 4042:3584444 3991:5527773 3901:5889618 3776:4541378 3725:3693757 3627:2714807 3543:2989184 3503:5770175 3494:1706430 3453:2579351 3430:Bibcode 3303:3474983 3254:3221642 3187:3019103 3076:2607262 2945:9286285 2910:7987644 2841:3135649 2751:3240819 2663:2901607 2510:8516051 2458:2772987 2404:4875268 2355:3700363 2334:Bibcode 2298:3484428 2249:1735271 2200:2830711 2160:9672254 2058:2713871 1902:2846640 1803:2170461 1700:aspirin 1545:, NHEJ 1492:, XPE ( 1158:reduce 1044:enzymes 1023:sunburn 836:in the 652:of the 444:of the 104:genes, 37:in the 5028:  5020:  5012:  4973:  4965:  4957:  4916:  4908:  4900:  4865:  4857:  4791:  4783:  4722:  4714:  4706:  4640:  4632:  4624:  4586:  4578:  4534:  4524:  4482:  4472:  4430:  4420:  4381:  4342:  4334:  4299:  4289:  4250:  4240:  4201:  4191:  4152:  4142:  4128:: 13. 4098:  4088:  4049:  4039:  4025:: 18. 3998:  3988:  3949:  3908:  3898:  3859:  3824:  3783:  3773:  3732:  3722:  3683:  3675:  3655:Cancer 3634:  3624:  3585:  3550:  3540:  3501:  3491:  3460:  3450:  3401:  3362:  3354:  3310:  3300:  3261:  3251:  3237:: 70. 3194:  3184:  3141:  3118:  3083:  3073:  3059:: 32. 3032:  2997:  2989:  2943:  2908:  2871:  2848:  2838:  2799:  2758:  2748:  2709:  2670:  2660:  2619:  2584:  2543:  2508:  2500:  2465:  2455:  2441:: 22. 2411:  2401:  2362:  2352:  2326:Nature 2305:  2295:  2256:  2246:  2207:  2197:  2158:  2095:  2065:  2055:  1982:  1974:  1909:  1899:  1857:  1849:  1810:  1800:  1756:  1663:uterus 1561:, MMR 1557:, NER 1553:, TLS 1549:, BER 1488:genes 1442:genes 1403:RECQ4 1399:RECQL4 1373:NTHL1 1305:MRE11A 1242:genes 1189:HRR 1122:cancer 1013:is an 952:, jaw 828:is an 800:SDHAF2 694:cervix 690:uterus 662:breast 641:is an 577:benign 478:FANCD2 412:; and 211:allele 87:tumors 79:cancer 5026:S2CID 4971:S2CID 4914:S2CID 4720:S2CID 4638:S2CID 4584:S2CID 4340:S2CID 3681:S2CID 3360:S2CID 2995:S2CID 2506:S2CID 1980:S2CID 1855:S2CID 1611:cells 1417:gene 1369:NTHL1 1323:MUTYH 1310:MRE11 1287:gene 1204:BRCA2 1201:BRCA1 1182:BLM ( 1116:gene 1076:Pol η 902:MUTYH 759:and 753:bases 658:BRCA2 654:BRCA1 584:colon 522:BRCA2 518:FANCP 514:FANCO 510:FANCN 506:FANCM 502:FANCL 498:FANCJ 494:FANCI 490:FANCG 486:FANCF 482:FANCE 474:FANCC 470:FANCB 466:FANCA 454:uvula 205:gene. 75:genes 39:colon 5018:PMID 5010:ISSN 4963:PMID 4955:ISSN 4906:PMID 4898:ISSN 4863:PMID 4855:ISSN 4789:PMID 4781:ISSN 4712:PMID 4704:ISSN 4630:PMID 4622:ISSN 4576:PMID 4532:PMID 4480:PMID 4428:PMID 4379:PMID 4332:PMID 4297:PMID 4248:PMID 4199:PMID 4150:PMID 4096:PMID 4047:PMID 3996:PMID 3947:PMID 3906:PMID 3857:PMID 3822:PMID 3781:PMID 3730:PMID 3673:PMID 3632:PMID 3583:PMID 3548:PMID 3499:PMID 3458:PMID 3399:PMID 3352:PMID 3308:PMID 3259:PMID 3192:PMID 3139:ISBN 3116:PMID 3081:PMID 3030:PMID 2987:PMID 2941:PMID 2906:PMID 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Index

Oncogenomics

Familial adenomatous polyposis
adenomas
colon
genetic disorder
genetic mutations
genes
cancer
lifetime risk
tumors
tumor suppressor genes
cell
DNA repair
oncogenes
angiogenesis
hereditary breast-ovarian cancer syndrome
hereditary non-polyposis colon cancer
hereditary breast-ovarian cancer syndrome
hereditary non-polyposis colon cancer
Genetic testing
adrenocortical carcinoma
carcinoid tumors
gastric cancer
peritoneal cancer
leiomyosarcoma
medullary thyroid cancer
paraganglioma
oncocytoma
sebaceous carcinoma

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