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• W1966498049 abstract "The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to assist health care providers with the appropriate provision of genetic testing and management of patients at risk for and affected with Lynch syndrome as follows: Figure 1 provides a colorectal cancer risk assessment tool to screen individuals in the office or endoscopy setting; Figure 2 illustrates a strategy for universal screening for Lynch syndrome by tumor testing of patients diagnosed with colorectal cancer; Figures 3−6 provide algorithms for genetic evaluation of affected and at-risk family members of pedigrees with Lynch syndrome; Table 10 provides guidelines for screening at-risk and affected persons with Lynch syndrome; and Table 12 lists the guidelines for the management of patients with Lynch syndrome. A detailed explanation of Lynch syndrome and the methodology utilized to derive these guidelines, as well as an explanation of, and supporting literature for, these guidelines are provided. The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to assist health care providers with the appropriate provision of genetic testing and management of patients at risk for and affected with Lynch syndrome as follows: Figure 1 provides a colorectal cancer risk assessment tool to screen individuals in the office or endoscopy setting; Figure 2 illustrates a strategy for universal screening for Lynch syndrome by tumor testing of patients diagnosed with colorectal cancer; Figures 3−6 provide algorithms for genetic evaluation of affected and at-risk family members of pedigrees with Lynch syndrome; Table 10 provides guidelines for screening at-risk and affected persons with Lynch syndrome; and Table 12 lists the guidelines for the management of patients with Lynch syndrome. A detailed explanation of Lynch syndrome and the methodology utilized to derive these guidelines, as well as an explanation of, and supporting literature for, these guidelines are provided. Colorectal cancer (CRC) is a major American health problem that ranks as the second leading cause of cancer death after lung cancer. In the United States, approximately 143,000 new cases are diagnosed each year, and 51,000 Americans die annually from this disorder.1Siegel R. Naishadham D. Jemal A. Cancer statistics, 2013.CA Cancer J Clin. 2013; 63: 11-30Crossref PubMed Scopus (11071) Google Scholar The cause of CRC is multifactorial, with environment and inheritance playing varying roles in different patients.2Platz E.A. Willett W.C. Colditz G.A. et al.Proportion of colorectal cancer risk that might be preventable in a cohort of middle-aged US men.Cancer Causes Control. 2000; 11: 579-588Crossref PubMed Scopus (0) Google Scholar Approximately 70%−80% of patients with CRC seem to have sporadic disease with no evidence of an inherited disorder. In the remaining 20%−30%, a potentially definable inherited component might be causative.3Lichtenstein P. Holm N.V. Verkasalo P.K. Environmental and heritable factors in the causation of cancer—analysis of cohorts of twins from Sweden, Denmark, and Finland.N Engl J Med. 2000; 343: 78-85Crossref PubMed Scopus (0) Google Scholar Lynch syndrome (LS), an autosomal dominant condition, is the most common cause of inherited CRC, accounting for about 3% of newly diagnosed cases of colorectal malignancy.4Aaltonen L.A. Salovaara R. Kristo P. et al.Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening of the disease.N Engl J Med. 1998; 338: 1481-1487Crossref PubMed Scopus (945) Google Scholar, 5Barnetson R.A. Tenesa A. Farrington S.M. et al.Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.N Engl J Med. 2006; 354: 2751-2763Crossref PubMed Scopus (362) Google Scholar, 6Hampel H. Frankel W.L. Martin E. et al.Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).N Engl J Med. 2005; 352: 1851-1860Crossref PubMed Scopus (1017) Google Scholar, 7Pinol V. Castells A. Andreu M. et al.Gastrointestinal Oncology Group of the Spanish Gastroenterology Association, accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.JAMA. 2005; 293: 1986-1994Crossref PubMed Scopus (0) Google Scholar, 8Salovaara R. Loukkola A. Kristo P. et al.Population-based molecular detection of hereditary nonpolyposis colorectal cancer.J Clin Oncol. 2000; 182: 193-200Google Scholar The eponym “Lynch syndrome” recognizes Dr Henry T. Lynch, the first author on the original 1966 publication that comprehensively described this condition.9Lynch H.T. Shaw M.W. Magnuson C.W. et al.Hereditary factors in cancer. Study of two large midwestern kindreds.Arch Intern Med. 1966; 117: 206-212Crossref PubMed Google Scholar In the early 1990s, mutation of genes in the DNA mismatch repair (MMR) pathway were implicated as the cause of LS,10Fishel R. Lescoe M.K. Rao M.R.S. et al.The human mutator gene homolog hMSH2 and its association with hereditary nonpolyposis colon cancer.Cell. 1993; 75: 1027-1038Abstract Full Text PDF PubMed Scopus (0) Google Scholar, 11Leach F.S. Nicolaides N. Papadopoulos N. et al.Mutations of a MutS homolog in hereditary non-polyposis colorectal cancer.Cell. 1993; 75: 1215-1255Abstract Full Text PDF PubMed Scopus (2026) Google Scholar, 12Papadopoulos N. Nicolaides N.C. Wei Y.-F. et al.Mutation of a mutL homolog in hereditary colon cancer.Science. 1994; 263: 1625-1629Crossref PubMed Google Scholar, 13Bronner C.E. Baker S.M. Morrison P.T. et al.Mutations in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary nonpolyposis colon cancer.Nature. 1994; 368: 258-261Crossref PubMed Scopus (0) Google Scholar and the presence of the mutations now defines the syndrome. Since then, germline testing with increasing sensitivity has been available for patients, as additional genetic discoveries have occurred. When used appropriately, genetic testing for LS can confirm the diagnosis at the molecular level, justify surveillance of at-risk persons, decrease the cost of surveillance by risk stratification, aid in surgical and chemoprevention management, and help in decisions concerning family and career planning. However, when used inappropriately, genetic testing can misinform affected patients with false-negative results and waste patient and societal resources. The goal of this consensus document is to critically analyze the current literature and provide “best practice” evidence-based recommendations for diagnosis and management strategies to health care providers caring for these patients. A systematic computer-aided search of MEDLINE from 2005 to 2012 was performed focusing on LS, hereditary nonpolyposis colorectal cancer (HNPCC), and associated reports of genetic testing. The search identified all literature under the medical subject headings and text words, “hereditary nonpolyposis colorectal cancer,” “HNPCC,” “Lynch syndrome,” “Muir Torre syndrome,” “Turcot syndrome,” and “gene/genetic testing.” In addition, a search was conducted using references from all retrieved reports, review articles, and textbook chapters. Publications were retrieved, and the authors synthesized and assessed the quality of the available data with respect to topicality and timeliness. Differences among reviewers concerning inclusions were resolved by consensus. Editorials and letters to the editors were excluded from this review. A variety of different types of publications were reviewed, including randomized controlled trials, retrospective and prospective observational cohorts, and population-based and case-control studies. The strength of the evidence from these sources was rated according to the National Cancer Institute levels of evidence for cancer genetic studies (Table 1).14National Cancer Institute. Levels of evidence for cancer genetic studies (PDQ). 2012. Available at: http://www.cancer.gov/cancertopics/pdq/levels-evidence-genetics. Accessed November 1, 2013.Google ScholarTable 1Levels of Evidence by National Cancer Institute Levels of Evidence for Cancer Genetic StudiesLevel of evidenceDescriptionIEvidence obtained from at least 1 well-designed and well-controlled randomized controlled trial that has either:a. Cancer end point with mortality or incidence, orb. Intermediate end pointIIEvidence obtained from well-designed and well-conducted nonrandomized controlled trials that have:a. Cancer end pointb. Intermediate end pointIIIEvidence obtained from well-designed and well-conducted cohort or case-control studies with:a. Cancer end pointb. Intermediate end pointIVEvidence from descriptive studies with:a. Cancer end pointb. Intermediate end pointVConclusions from authorities based on clinical experience, descriptive studies and/or expert committees Open table in a new tab In addition, a well-accepted rating of evidence, Grades of Recommendation, Assessment, Development, and Evaluation (GRADE), which relies on expert consensus about whether new research is likely to change the confidence level (CL) of the recommendation was also utilized for evaluation of LS interventions (Table 2).15Guyatt G.H. Oxman A.D. Vist G.E. et al.GRADE: an emerging consensus on rating quality of evidence and strength of recommendations.BMJ. 2008; 336: 924-926Crossref PubMed Google ScholarTable 2Rating of Evidence by Grades of Recommendation, Assessment, Development, and Evaluation MethodologyRating of evidenceImpact of potential future researchA. High qualityVery unlikely to change confidence in the estimate of effectB. Moderate qualityLikely to have an important impact on confidence and might change estimate of effectC. Low qualityVery likely to have an important impact on confidence in the estimate of effect and is likely to change the estimateD. Very low qualityAny estimate of effect is very uncertain Open table in a new tab The Multi-Society Task Force is composed of gastroenterology specialists with a special interest in CRC, representing the following major gastroenterology professional organizations: American College of Gastroenterology, American Gastroenterological Association Institute, and the American Society for Gastrointestinal Endoscopy. Also, experts on LS from academia and private practice were invited authors of this guideline. Representatives of the Collaborative Group of the Americas on Inherited Colorectal Cancer and the American Society of Colon and Rectal Surgeons also reviewed this manuscript. In addition to the Task Force and invited experts, the practice committees and Governing Boards of the American Gastroenterological Association Institute, American College of Gastroenterology, American Society for Gastrointestinal Endoscopy reviewed and approved this document. In 1966, Dr Henry T. Lynch and colleagues reported familial aggregation of CRC with stomach and endometrial tumors in 2 extended pedigrees and designated this condition cancer family syndrome.9Lynch H.T. Shaw M.W. Magnuson C.W. et al.Hereditary factors in cancer. Study of two large midwestern kindreds.Arch Intern Med. 1966; 117: 206-212Crossref PubMed Google Scholar Later, to differentiate this syndrome from the other well-known inherited form of CRC, familial adenomatous polyposis, the appellation hereditary nonpolyposis colorectal cancer was utilized. In 1984, the term Lynch syndrome was coined by Boland and Troncale to refer to this disorder.16Boland C.R. Troncale F.J. Familial colonic cancer without antecedent polyposis.Ann Intern Med. 1984; 100: 700-701Crossref PubMed Scopus (106) Google Scholar Today this condition is called Lynch syndrome. This designation is correctly applied to families and patients with a germline mutation in an MMR gene or loss of expression of the MSH2 gene due to deletion in the EPCAM gene. Also, this name is more appropriate than HNPCC because most LS patients will develop one or several adenomatous polyps, which makes the term nonpolyposis misleading. LS is an autosomal dominant disorder with colorectal malignancy as the major clinical consequence.4Aaltonen L.A. Salovaara R. Kristo P. et al.Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening of the disease.N Engl J Med. 1998; 338: 1481-1487Crossref PubMed Scopus (945) Google Scholar, 5Barnetson R.A. Tenesa A. Farrington S.M. et al.Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.N Engl J Med. 2006; 354: 2751-2763Crossref PubMed Scopus (362) Google Scholar, 6Hampel H. Frankel W.L. Martin E. et al.Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).N Engl J Med. 2005; 352: 1851-1860Crossref PubMed Scopus (1017) Google Scholar, 7Pinol V. Castells A. Andreu M. et al.Gastrointestinal Oncology Group of the Spanish Gastroenterology Association, accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.JAMA. 2005; 293: 1986-1994Crossref PubMed Scopus (0) Google Scholar, 8Salovaara R. Loukkola A. Kristo P. et al.Population-based molecular detection of hereditary nonpolyposis colorectal cancer.J Clin Oncol. 2000; 182: 193-200Google Scholar The lifetime risk of CRC in LS has been variably estimated and appears dependent on sex and the MMR gene mutated.17Bonadona V. Bonaïti B. Olschwang S. et al.Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.JAMA. 2011; 30: 2304-2310Crossref Scopus (657) Google Scholar, 18Dunlap M.G. Farrington S.M. Carothers A.D. et al.Cancer risk associated with germline DNA mismatch repair gene mutations.Hum Mol Genet. 1997; 6: 105-110Crossref PubMed Scopus (580) Google Scholar, 19Quehenberger F. Vasen H.F. van Houwelingen H.C. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment.J Med Genet. 2005; 42: 491-496Crossref PubMed Scopus (223) Google Scholar, 20Jenkins M.A. Baglietto L. Dowty J.G. et al.Cancer risks for mismatch repair gene mutation carriers: a population-based early onset care-family study.Clin Gastroenterol Hepatol. 2006; 4: 489-498Abstract Full Text Full Text PDF PubMed Scopus (0) Google Scholar, 21Alarcon F. Lasset C. Carayol J. et al.Estimating cancer risk in HNPCC by the BRL method.Eur J Hum Genet. 2007; 15: 831-836Crossref PubMed Scopus (46) Google Scholar, 22Baglietto L. Lindor N.M. Dowty J.G. et al.Risks of Lynch syndrome cancers for MSH6 mutation carriers.J Natl Cancer Inst. 2010; 102: 193-201Crossref PubMed Scopus (254) Google Scholar, 23Choi Y.H. Cotterchio M. McKeown-Eyssen G. et al.Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.Hered Cancer Clin Pract. 2009; 7: 14Crossref PubMed Scopus (46) Google Scholar Most reports of lifetime risks of CRC for MLH1 and MSH2 gene mutation carriers range from 30% to 74% (Table 3). Lower cumulative lifetime risk for colorectal malignancy ranging from 10% to 22% has been found in patients with MSH6 mutations24Hendriks Y.M. Wagner A. Morreau H. et al.Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.Gastroenterology. 2004; 127: 17-25Abstract Full Text Full Text PDF PubMed Scopus (321) Google Scholar and 15%−20% in those with PMS2 mutations.25Senter L. Clendenning M. Sotamaa K. et al.The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.Gastroenterology. 2008; 135: 419-428Abstract Full Text Full Text PDF PubMed Scopus (392) Google Scholar Mean age at CRC diagnosis in LS patients is 44−61 years6Hampel H. Frankel W.L. Martin E. et al.Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).N Engl J Med. 2005; 352: 1851-1860Crossref PubMed Scopus (1017) Google Scholar, 26Hampel H. Frankel W.L. Martin E. et al.Feasibility of screening for Lynch syndrome among patients with colorectal cancer.J Clin Oncol. 2008; 26: 5783-5788Crossref PubMed Scopus (606) Google Scholar, 27Vasen H.R. Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)].Fam Cancer. 2005; 4: 219-225Crossref PubMed Scopus (79) Google Scholar, 28Hampel H. Stephens J.A. Pukkala E. et al.Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset.Gastroenterology. 2005; 129: 415-421Abstract Full Text Full Text PDF PubMed Scopus (265) Google Scholar compared with 69 years in sporadic cases of CRC.29Howlader N, Noone AM, Krapcho M, et al., eds. SEER Cancer Statistics Review, 1975–2009 (Vintage 2009 Populations). Bethesda, MD: National Cancer Institute. Available at: http://seer.cancer.gov/csr/1975_2009_pops09/. Accessed November 1, 2013.Google Scholar In LS, colorectal tumors arise primarily (60%−80%) on the right side of the colon (proximal to the splenic flexure) compared with 30% in sporadic CRC.30Lynch H.T. Smyrk T.C. Watson P. et al.Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an update review.Gastroenterology. 1993; 104: 1535-1549Crossref PubMed Google Scholar A high rate of metachronous CRC (16% at 10 years; 41% at 20 years) is noted in LS patients with segmental surgical resection of the initial CRC.31de Vos tot Nederveen Cappel W.H. Nagengast F.M. Griffioen G. et al.Survellance for hereditary nonpolyposis colorectal cancer: a long-term study of 114 families.Dis Colon Rectum. 2002; 45: 1588-1594Crossref PubMed Scopus (0) Google Scholar, 32Parry S. Win A.K. Parry B. et al.Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery.Gut. 2011; 60: 950-957Crossref PubMed Scopus (178) Google Scholar, 33Win A.K. Parry S. Parry B. et al.Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers.Ann Surg Oncol. 2013; 20: 1829-1836Crossref PubMed Scopus (74) Google Scholar The precursor lesion for LS appears to be a discrete colonic adenoma, which can occasionally be flat rather than elevated/polypoid. Compared with patients with attenuated polyposis syndromes, LS patients develop fewer colorectal adenomas by age 50 years (usually <3 neoplasms).34Edelstein D.L. Axilbund J.E. Baxter M. et al.Rapid development of colorectal neoplasia in patients with Lynch syndrome.Clin Gastroenterol Hepatol. 2011; 9: 340-343Abstract Full Text Full Text PDF PubMed Scopus (94) Google Scholar LS colorectal adenomas typically demonstrate features of increased risk of cancer, including villous histology and high-grade dysplasia.35Jass J.R. Stewart S.M. Stewart J. et al.Hereditary nonpolyposis colorectal cancer—morphologies, genes and mutations.Mut Res. 1994; 310: 125-133Crossref PubMed Scopus (0) Google Scholar The adenoma−carcinoma sequence appears more rapid in LS with polyp to cancer dwell times estimated at 35 months compared with 10−15 years in sporadic cancer.34Edelstein D.L. Axilbund J.E. Baxter M. et al.Rapid development of colorectal neoplasia in patients with Lynch syndrome.Clin Gastroenterol Hepatol. 2011; 9: 340-343Abstract Full Text Full Text PDF PubMed Scopus (94) Google Scholar This phenomenon is likely related to dysfunction of the MMR genes, leaving frequent DNA mismatches in multiple genes leading to malfunction of these genes. The histopathology of LS CRC is more frequently poorly differentiated, can be signet cell histology, abundant in extracellular mucin, with tumor infiltrating lymphocytes, and distinguished by a lymphoid (Crohn’s-like pattern and/or peritumoral lymphocytes) host response to tumor.36Jenkins M.A. Hayashi S. O’Shea A.M. et al.Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population based study.Gastroenterology. 2007; 133: 48-56Abstract Full Text Full Text PDF PubMed Scopus (0) Google Scholar, 37Peltomaki P. Offerhaus G.J.A. Vasen H.F.A. Lynch syndrome.in: Bosman F.T. Carneiro F. Hruban R.H. WHO classification of tumors of the digestive system. Stylus Publishing, Sterling, VA2010: 152-155Google Scholar LS patients have improved survival from CRC stage for stage compared with those with sporadic cancer.38Gryfe R. Kim H. Hsieh E.T.K. et al.Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer.N Engl J Med. 2000; 342: 69-77Crossref PubMed Scopus (1097) Google ScholarTable 3Gene-Specific Cumulative Risks of Colorectal Cancer by Age 70 Years in Lynch SyndromeGene mutation carriersRisk, %Mean age at diagnosis, yReferencesSporadic cancer5.56929Howlader N, Noone AM, Krapcho M, et al., eds. SEER Cancer Statistics Review, 1975–2009 (Vintage 2009 Populations). Bethesda, MD: National Cancer Institute. Available at: http://seer.cancer.gov/csr/1975_2009_pops09/. Accessed November 1, 2013.Google ScholarMLH1/MSH2Male: 27−74Female: 22−5327−4617Bonadona V. Bonaïti B. Olschwang S. et al.Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.JAMA. 2011; 30: 2304-2310Crossref Scopus (657) Google Scholar, 18Dunlap M.G. Farrington S.M. Carothers A.D. et al.Cancer risk associated with germline DNA mismatch repair gene mutations.Hum Mol Genet. 1997; 6: 105-110Crossref PubMed Scopus (580) Google Scholar, 19Quehenberger F. Vasen H.F. van Houwelingen H.C. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment.J Med Genet. 2005; 42: 491-496Crossref PubMed Scopus (223) Google Scholar, 20Jenkins M.A. Baglietto L. Dowty J.G. et al.Cancer risks for mismatch repair gene mutation carriers: a population-based early onset care-family study.Clin Gastroenterol Hepatol. 2006; 4: 489-498Abstract Full Text Full Text PDF PubMed Scopus (0) Google Scholar, 21Alarcon F. Lasset C. Carayol J. et al.Estimating cancer risk in HNPCC by the BRL method.Eur J Hum Genet. 2007; 15: 831-836Crossref PubMed Scopus (46) Google Scholar, 23Choi Y.H. Cotterchio M. McKeown-Eyssen G. et al.Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.Hered Cancer Clin Pract. 2009; 7: 14Crossref PubMed Scopus (46) Google ScholarMSH6Male: 22Female: 10Male and female: 1854−6317Bonadona V. Bonaïti B. Olschwang S. et al.Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.JAMA. 2011; 30: 2304-2310Crossref Scopus (657) Google Scholar, 22Baglietto L. Lindor N.M. Dowty J.G. et al.Risks of Lynch syndrome cancers for MSH6 mutation carriers.J Natl Cancer Inst. 2010; 102: 193-201Crossref PubMed Scopus (254) Google ScholarPMS2Male: 20Female: 1547−6625Senter L. Clendenning M. Sotamaa K. et al.The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.Gastroenterology. 2008; 135: 419-428Abstract Full Text Full Text PDF PubMed Scopus (392) Google Scholar Open table in a new tab In addition to CRC, LS patients have a significantly increased risk for a wide variety of extracolonic malignancies (Table 4). The highest risk is for endometrial cancer (EC), which occurs in up to 54% of women with MLH1 and MSH2 mutations, with lower risk in those with PMS2 (15%) mutations25Senter L. Clendenning M. Sotamaa K. et al.The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.Gastroenterology. 2008; 135: 419-428Abstract Full Text Full Text PDF PubMed Scopus (392) Google Scholar and much higher risk in persons with MSH6 mutations (71%).24Hendriks Y.M. Wagner A. Morreau H. et al.Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.Gastroenterology. 2004; 127: 17-25Abstract Full Text Full Text PDF PubMed Scopus (321) Google Scholar LS caused by MSH6 mutation is also characterized by later onset of colorectal and endometrial cancers than with other MMR gene alternations. Increased lifetime risk of transitional cell carcinoma of the ureter, renal pelvis, and bladder; adenocarcinomas of the ovary, stomach, hepatobiliary tract, and small bowel; brain cancer (glioblastoma); and cutaneous sebaceous neoplasms also occur in LS families.17Bonadona V. Bonaïti B. Olschwang S. et al.Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.JAMA. 2011; 30: 2304-2310Crossref Scopus (657) Google Scholar, 28Hampel H. Stephens J.A. Pukkala E. et al.Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset.Gastroenterology. 2005; 129: 415-421Abstract Full Text Full Text PDF PubMed Scopus (265) Google Scholar, 39Aarnio M. Sankila R. Pukkala E. et al.Cancer risk in mutation carriers of DNA-mismatch-repair genes.Int J Cancer. 1999; 81: 214-218Crossref PubMed Google Scholar, 40Vasen H.R. Stormorken A. Menko F.H. et al.MSH2 mutation carriers are a higher risk for cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families.J Clin Oncol. 2001; 19: 4074-4080Crossref PubMed Google Scholar, 41Ponti G. Losi L. Pedroni M. et al.Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or kertoacanthomas.J Invest Dermatol. 2006; 126: 2302-2307Abstract Full Text Full Text PDF PubMed Scopus (0) Google Scholar, 42South C.D. Hampel H. Comeras I. et al.The frequency of Muir-Torre syndrome among Lynch syndrome families.J Natl Cancer Inst. 2008; 100: 277-281Crossref PubMed Scopus (0) Google Scholar, 43Watson P. Burzow R. Lynch H.T. et al.The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer.Gynecol Oncol. 2001; 82: 223-228Abstract Full Text PDF PubMed Scopus (187) Google Scholar, 44Barrow E. Robinson L. Alduaij W. et al.Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations.Clin Genet. 2009; 75: 141-149Crossref PubMed Scopus (215) Google Scholar, 45Aarnio M. Salovaara R. Aaltonen L.A. et al.Features of gastric cancer in hereditary non-polyposis colorectal cancer.Int J Cancer. 1997; 74: 551-555Crossref PubMed Scopus (0) Google Scholar, 46Watson P. Vasen H.F. Mecklin J.P. et al.The risk of extra-colonic, extra-endometrial cancer in Lynch syndrome.Int J Cancer. 2008; 123: 444-449Crossref PubMed Scopus (0) Google Scholar, 47Capelle L.G. Van Grieken N.C. Lingsma H.F. et al.Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands.Gastroenterology. 2010; 138: 487-492Abstract Full Text Full Text PDF PubMed Scopus (149) Google Scholar, 48Engel C. Loeffler M. Steinke V. et al.Risks of less common cancers in proven mutation carriers with lynch syndrome.J Clin Oncol. 2012; 30: 4409-4415Crossref PubMed Scopus (189) Google Scholar, 49van der Post R.S. Kiemeney L.A. Ligtenberg M.J. et al.Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.J Med Genet. 2010; 47: 464-470Crossref PubMed Scopus (120) Google Scholar, 50Kastrinos F. Stoffel E.M. Balmana J. et al.Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1914 individuals undergoing clinical genetic testing in the United States.Cancer Epidemiol Biomarkers Prev. 2008; 17: 2044-2051Crossref PubMed Scopus (0) Google Scholar, 51Win A.K. Young J.P. Lindor N.M. Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study.J Clin Oncol. 2012; 30: 958-964Crossref PubMed Scopus (228) Google Scholar, 52Axilbund JE, Klein AP, Bacon JA, et al. Risk of pancreatic cancer in hereditary nonpolyposis colorectal cancer. Insight Meeting, Dusseldorf, Germany, June 24–27, 2009.Google Scholar, 53Grindedal E.M. Moller P. Eeles R. et al.Germ-line mutations in mismatch repair genes associated with prostate cancer.Cancer Epidemiol Biomarkers Prev. 2009; 18: 2460-2467Crossref PubMed Scopus (0) Google Scholar An increased risk of pancreas cancer in LS has been described by some investigators50Kastrinos F. Stoffel E.M. Balmana J. et al.Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1914 individuals undergoing clinical genetic testing in the United States.Cancer Epidemiol Biomarkers Prev. 2008; 17: 2044-2051Crossref PubMed Scopus (0) Google Scholar, 54Kastrinos F. Mukherjee B. Tayob N. et al.Risk of pancreatic cancer in families with Lynch syndrome.JAMA. 2009; 302 (1790–175)Crossref Scopus (308) Google Scholar but not others.44Barrow E. Robinson L. Alduaij W. et al.Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations.Clin Genet. 2009; 75: 141-149Crossref PubMed Scopus (215) Google Scholar The relationship between LS and breast cancer is unclear. Although a small increase in absolute risk of breast cancer (18%) has been found,48Engel C. Loeffler M. Steinke V. et al.Risks of less common cancers in proven mutation carriers with lynch syndrome.J Clin Oncol. 2012; 30: 4409-4415Crossref PubMed Scopus (189) Google Scholar, 55Muller A. Edmonston T.B. Corao D.A. et al.Exclusion of breast cancer as an integral tumor of hereditary nonpolyposis colorectal cancer.Cancer Res. 2002; 62: 1014-1019PubMed Google Scholar most registry reports have not demonstrated this consistently.46Watson P. Vasen H.F. Mecklin J.P. et al.The risk of extra-colonic, extra-endometrial cancer in Lynch syndrome.Int J Cancer. 2008; 123: 444-449Crossref PubMed Scopus (0) Google Scholar, 56Vasen H.F. Morreau H. Nortier J.W. Is breast cancer part of the tumor spectrum of hereditary nonpoly" @default.
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• W1966498049 title "Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer" @default.
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