Hegde M, Ferber M, Mao R, Samowitz W, Ganguly A, Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee. ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). Genet Med. 2014. https://doi.org/10.1038/gim.2013.166.

Article  PubMed  PubMed Central  Google Scholar 

Mao R, Krautscheid P, Graham RP, Ganguly A, Shankar S, Ferber M, Hegde M, ACMG Laboratory Quality Assurance Committee. Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021. https://doi.org/10.1038/s41436-021-01207-9.

Article  PubMed  PubMed Central  Google Scholar 

Gallon R, Gawthorpe P, Phelps RL, Hayes C, Borthwick GM, Santibanez-Koref M, Jackson MS, Burn J. How should we test for Lynch Syndrome? A review of current guidelines and future strategies. Cancers (Basel). 2021. https://doi.org/10.3390/cancers13030406.

Article  PubMed  Google Scholar 

Al-Sohaily S, Biankin A, Leong R, Kohonen-Corish M, Warusavitarne J. Molecular pathways in colorectal cancer. J Gastroenterol Hepatol. 2012. https://doi.org/10.1111/j.1440-1746.2012.07200.x.

Article  PubMed  Google Scholar 

Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, Church JM, Dominitz JA, Johnson DA, Kaltenbach T, Levin TR, Lieberman DA, Robertson DJ, Syngal S, Rex DK, US Multi-Society Task Force on Colorectal Cancer. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer. Gastroenterology. 2014. https://doi.org/10.1053/j.gastro.2014.04.001.

Article  PubMed  Google Scholar 

Keum N, Giovannucci E. Global burden of colorectal cancer: emerging trends, risk factors and prevention strategies. Nat Rev Gastroenterol Hepatol. 2019. https://doi.org/10.1038/s41575-019-0189-8.

Article  PubMed  Google Scholar 

Talbot A, O’Donovan E, Berkley E, Nolan C, Clarke R, Gallagher D. The contribution of Lynch syndrome to early onset malignancy in Ireland. BMC Cancer. 2021. https://doi.org/10.1186/s12885-021-08263-z.

Article  PubMed  PubMed Central  Google Scholar 

Harada S, Morlote D. Molecular Pathology of Colorectal Cancer. Adv Anat Pathol. 2020. https://doi.org/10.1097/PAP.0000000000000247.

Article  PubMed  Google Scholar 

Evrard C, Tachon G, Randrian V, Karayan-Tapon L, Tougeron D. Microsatellite instability: diagnosis, heterogeneity, discordance, and clinical impact in Colorectal Cancer. Cancers (Basel). 2019. https://doi.org/10.3390/cancers11101567.

Article  PubMed  PubMed Central  Google Scholar 

De’ Angelis GL, Bottarelli L, Azzoni C, De’ Angelis N, Leandro G, Di Mario F, Gaiani F, Negri F. Microsatellite instability in colorectal cancer. Acta Biomed. 2018. https://doi.org/10.23750/abm.v89i9-S.7960.

Article  PubMed  Google Scholar 

Tanakaya K. Current clinical topics of Lynch syndrome. Int J Clin Oncol. 2019. https://doi.org/10.1007/s10147-018-1282-7.

Article  PubMed  Google Scholar 

Xavier A, Olsen MF, Lavik LA, Johansen J, Singh AK, Sjursen W, Scott RJ, Talseth-Palmer BA. Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome. Mol Genet Genomic Med. 2019. https://doi.org/10.1002/mgg3.850.

Article  PubMed  PubMed Central  Google Scholar 

Sjursen W, Haukanes BI, Grindedal EM, Aarset H, Stormorken A, Engebretsen LF, Jonsrud C, Bjørnevoll I, Andresen PA, Ariansen S, Lavik LA, Gilde B, Bowitz-Lothe IM, Maehle L, Møller P. Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. J Med Genet. 2010. https://doi.org/10.1136/jmg.2010.077677.

Article  PubMed  Google Scholar 

Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991. https://doi.org/10.1007/BF02053699.

Article  PubMed  Google Scholar 

Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999. https://doi.org/10.1016/s0016-5085(99)70510-x.

Article  PubMed  Google Scholar 

Moreira L, Balaguer F, Lindor N, de la Chapelle A, Hampel H, Aaltonen LA, Hopper JL, Le Marchand L, Gallinger S, Newcomb PA, Haile R, Thibodeau SN, Gunawardena S, Jenkins MA, Buchanan DD, Potter JD, Baron JA, Ahnen DJ, Moreno V, Andreu M, Ponz de Leon M, Rustgi AK, Castells A, EPICOLON Consortium. Identification of Lynch syndrome among patients with colorectal cancer. JAMA. 2012. https://doi.org/10.1001/jama.2012.13088.

Article  PubMed  PubMed Central  Google Scholar 

Møller P, Seppälä TT, Bernstein I, Holinski-Feder E, Sala P, Gareth Evans D, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Cappel VTN, Hill WH, Wijnen J, Jenkins JT, Green MA, Lalloo K, Sunde F, Mints L, Bertario M, Pineda L, Navarro M, Morak M, Renkonen-Sinisalo M, Valentin L, Frayling MD, Plazzer IM, Pylvanainen JP, Genuardi K, Mecklin M, Moeslein JP, Sampson G, Capella JR, Mallorca Group. Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the prospective Lynch Syndrome Database. Gut. 2018. https://doi.org/10.1136/gutjnl-2017-314057.

Article  PubMed  Google Scholar 

Metcalfe MJ, Petros FG, Rao P, Mork ME, Xiao L, Broaddus RR, Matin SF. Universal Point of Care Testing for Lynch Syndrome in patients with Upper Tract Urothelial Carcinoma. J Urol. 2018. https://doi.org/10.1016/j.juro.2017.08.002.

Article  PubMed  Google Scholar 

Lim A, Rao P, Matin SF. Lynch syndrome and urologic malignancies: a contemporary review. Curr Opin Urol. 2019. https://doi.org/10.1097/MOU.0000000000000639.

Article  PubMed  Google Scholar 

Phelan A, Lopez-Beltran A, Montironi R, Zhang S, Raspollini MR, Cheng M, Kaimakliotis HZ, Koch MO, Cheng L. Inherited forms of bladder cancer: a review of Lynch syndrome and other inherited conditions. Future Oncol. 2018. https://doi.org/10.2217/fon-2017-0346.

Article  PubMed  Google Scholar 

Cho H, Yamada M, Sekine S, Tanabe N, Ushiama M, Hirata M, Ogawa G, Gotoh M, Yoshida T, Yoshikawa T, Saito Y, Kuchiba A, Oda I, Sugano K. Gastric cancer is highly prevalent in Lynch syndrome patients with atrophic gastritis. Gastric Cancer. 2021. https://doi.org/10.1007/s10120-020-01113-0.

Article  PubMed  PubMed Central  Google Scholar 

Samowitz WS. Evaluation of colorectal cancers for Lynch syndrome: practical molecular diagnostics for surgical pathologists. Mod Pathol. 2015. https://doi.org/10.1038/modpathol.2014.127.

Article  PubMed  Google Scholar 

Biller LH, Syngal S, Yurgelun MB. Recent advances in Lynch syndrome. Fam Cancer. 2019. https://doi.org/10.1007/s10689-018-00117-1.

Article  PubMed  PubMed Central  Google Scholar 

Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, Lynch H, Perucho M, Smyrk T, Sobin L, Srivastava S. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst. 1997. https://doi.org/10.1093/jnci/89.23.1758.

Article  PubMed  Google Scholar 

Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004. https://doi.org/10.1093/jnci/djh034.

Article  PubMed  Google Scholar 

Miyakura Y, Sugano K, Konishi F, Ichikawa A, Maekawa M, Shitoh K, Igarashi S, Kotake K, Koyama Y, Nagai H. Extensive methylation of hMLH1 promoter region predominates in proximal colon cancer with microsatellite instability. Gastroenterology. 2001. https://doi.org/10.1053/gast.2001.29616.

Article  PubMed  Google Scholar 

Leclerc J, Vermaut C, Buisine MP. Diagnosis of Lynch syndrome and strategies to Distinguish Lynch-Related tumors from sporadic MSI/dMMR tumors. Cancers (Basel). 2021. https://doi.org/10.3390/cancers13030467.

Article  PubMed  Google Scholar 

Shia J, Holck S, Depetris G, Greenson JK, Klimstra DS. Lynch syndrome-associated neoplasms: a discussion on histopathology and immunohistochemistry. Fam Cancer. 2013. https://doi.org/10.1007/s10689-013-9612-4.

Article  PubMed  Google Scholar 

Barnetson RA, Tenesa A, Farrington SM, Nicholl ID, Cetnarskyj R, Porteous ME, Campbell H, Dunlop MG. Identification and survival of carriers of mutations in DNA mismatch-repair genesR in colon cancer. N Engl J Med. 2006. https://doi.org/10.1056/NEJMoa053493.

Article  PubMed  Google Scholar 

Picó MD, Castillejo A, Murcia Ó, Giner-Calabuig M, Alustiza M, Sánchez A, Moreira L, Pellise M, Castells A, Carrillo-Palau M, Ramon Y, Cajal T, Gisbert-Beamud A, Llort G, Yagüe C, López-Fernández A, Alvarez-Urturi C, Cubiella J, Rivas L, Rodríguez-Alcalde D, Herraiz M, Garau C, Dolz C, Bujanda L, Cid L, Povés C, Garzon M, Salces I, Ponce M, Hernández-Villalba L, Alenda C, Balaguer F, Soto JL, Jover R. Clinical and pathological characterization of Lynch-Like Syndrome. Clin Gastroenterol Hepatol. 2020. https://doi.org/10.1016/j.cgh.2019.06.012.

Article  PubMed  Google Scholar 

Chao X, Li L, Wu M, Ma S, Tan X, Zhong S, Bi Y, Lang J. Comparison of screening strategies for Lynch syndrome in patients with newly diagnosed endometrial cancer: a prospective cohort study in China. Cancer Commun (Lond). 2019. https://doi.org/10.1186/s40880-019-0388-2.

Article  PubMed  Google Scholar 

Lawrence J, Richer L, Arseneau J, Zeng X, Chong G, Weber E, Foulkes W, Palma L. Mismatch repair Universal Screening of Endometrial Cancers (MUSE) in a canadian cohort. Curr Oncol. 2021. https://doi.org/10.3390/curroncol28010052.

Article  PubMed  PubMed Central  Google Scholar 

Najdawi F, Crook A, Maidens J, McEvoy C, Fellowes A, Pickett J, Ho M, Nevell D, McIlroy K, Sheen A, Sioson L, Ahadi M, Turchini J, Clarkson A, Hogg R, Valmadre S, Gard G, Dooley SJ, Scott RJ, Fox SB, Field M, Gill AJ. Lessons learnt from implementation of a Lynch syndrome screening program for patients with gynaecological malignancy. Pathology. 2017. https://doi.org/10.1016/j.pathol.2017.05.004.

Article  PubMed