Hereditary nonpolyposis colorectal cancer (English Wikipedia)

Braun MM, Overbeek-Wager EA, Grumbo RJ (March 2016). "Diagnosis and Management of Endometrial Cancer". American Family Physician. 93 (6): 468–74. PMID 26977831.

accessmedicine.com

Hoffman BL (2012). "Chapter 33: Endometrial Cancer". Williams Gynecology (2nd ed.). New York: McGraw-Hill Medical. ISBN 978-0071716727. Archived from the original on 2014-01-04. Retrieved 2014-06-23.

annalsnyas.org

Pathology of Hereditary Nonpolyposis Colorectal Cancer - JASS 910 (1): 62 - Annals of the New York Academy of Sciences Archived 2006-06-19 at the Wayback Machine

archive.today

Lipton LR, Johnson V, Cummings C, Fisher S, Risby P, Eftekhar Sadat AT, et al. (December 2004). "Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic". Journal of Clinical Oncology. 22 (24): 4934–43. doi:10.1200/JCO.2004.11.084. PMID 15611508. Archived from the original on 2013-04-15.

archivesofpathology.org

Gologan A, Krasinskas A, Hunt J, Thull DL, Farkas L, Sepulveda AR (November 2005). "Performance of the revised Bethesda guidelines for identification of colorectal carcinomas with a high level of microsatellite instability". Archives of Pathology & Laboratory Medicine. 129 (11): 1390–7. doi:10.5858/2005-129-1390-POTRBG. PMID 16253017.

bowelcanceruk.org.uk

"Bowel Cancer UK: Lynch Syndrome". Retrieved 31 March 2018.

cdc.gov

"Medical Options | CDC". www.cdc.gov. 2020-04-01. Retrieved 2020-12-07.
"CDC: March 22nd is National Lynch Syndrome Awareness Day!". 2018-03-20. Retrieved 31 March 2018.

doi.org

Carethers, John M; Stoffel, Elena M (2015-08-21). "Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer". World Journal of Gastroenterology. 21 (31): 9253–9261. doi:10.3748/wjg.v21.i31.9253. ISSN 1007-9327. PMC 4541378. PMID 26309352.
Kastrinos F, Mukherjee B, Tayob N, Wang F, Sparr J, Raymond VM, et al. (October 2009). "Risk of pancreatic cancer in families with Lynch syndrome". JAMA. 302 (16): 1790–5. doi:10.1001/jama.2009.1529. PMC 4091624. PMID 19861671.
Vogel JD, Eskicioglu C, Weiser MR, Feingold DL, Steele SR (October 2017). "The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Treatment of Colon Cancer". Diseases of the Colon and Rectum. 60 (10): 999–1017. doi:10.1097/DCR.0000000000000926. PMID 28891842.
Sobocińska, Joanna; Kolenda, Tomasz; Teresiak, Anna; Badziąg-Leśniak, Natalia; Kopczyńska, Magda; Guglas, Kacper; Przybyła, Anna; Filas, Violetta; Bogajewska-Ryłko, Elżbieta; Lamperska, Katarzyna; Mackiewicz, Andrzej (2020-10-05). "Diagnostics of Mutations in MMR/EPCAM Genes and Their Role in the Treatment and Care of Patients with Lynch Syndrome". Diagnostics. 10 (10): 786. doi:10.3390/diagnostics10100786. ISSN 2075-4418. PMC 7600989. PMID 33027913.
Møller, Pål; Seppälä, Toni T.; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paulo; Gareth Evans, D.; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf H.; Jeffries, Jacqueline (2018). "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. 67 (7): 1306–1316. doi:10.1136/gutjnl-2017-314057. ISSN 1468-3288. PMC 6031262. PMID 28754778.
Ring, Kari L.; Garcia, Christine; Thomas, Martha H.; Modesitt, Susan C. (2017). "Current and future role of genetic screening in gynecologic malignancies". American Journal of Obstetrics and Gynecology. 217 (5): 512–521. doi:10.1016/j.ajog.2017.04.011. ISSN 1097-6868. PMID 28411145. S2CID 29024566.
Oki E, Oda S, Maehara Y, Sugimachi K (March 1999). "Mutated gene-specific phenotypes of dinucleotide repeat instability in human colorectal carcinoma cell lines deficient in DNA mismatch repair". Oncogene. 18 (12): 2143–7. doi:10.1038/sj.onc.1202583. PMID 10321739.
Yokoyama T, Takehara K, Sugimoto N, Kaneko K, Fujimoto E, Okazawa-Sakai M, et al. (May 2018). "Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review". BMC Cancer. 18 (1): 576. doi:10.1186/s12885-018-4489-0. PMC 5963021. PMID 29783979.
Peltomäki P (March 2003). "Role of DNA mismatch repair defects in the pathogenesis of human cancer". Journal of Clinical Oncology. 21 (6): 1174–9. doi:10.1200/JCO.2003.04.060. PMID 12637487.
Tamura K, Kaneda M, Futagawa M, Takeshita M, Kim S, Nakama M, et al. (September 2019). "Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome". International Journal of Clinical Oncology. 24 (9): 999–1011. doi:10.1007/s10147-019-01494-y. PMID 31273487. S2CID 195795805.
Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, et al. (December 1993). "The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer". Cell. 75 (5): 1027–38. doi:10.1016/0092-8674(93)90546-3. PMID 8252616.
Yurgelun MB, Hampel H (May 2018). "Recent Advances in Lynch Syndrome: Diagnosis, Treatment, and Cancer Prevention". American Society of Clinical Oncology Educational Book. American Society of Clinical Oncology. Annual Meeting. 38 (38): 101–109. doi:10.1200/EDBK_208341. PMID 30231390.
Le S, Ansari U, Mumtaz A, Malik K, Patel P, Doyle A, Khachemoune A (November 2017). "Lynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology, and management of two related disorders". Dermatology Online Journal. 23 (11). doi:10.5070/D32311037239. PMID 29447627.
Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, et al. (March 1994). "Mutation of a mutL homolog in hereditary colon cancer". Science. 263 (5153): 1625–9. Bibcode:1994Sci...263.1625P. doi:10.1126/science.8128251. PMID 8128251.
Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, et al. (November 1997). "Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer". Nature Genetics. 17 (3): 271–2. doi:10.1038/ng1197-271. PMID 9354786. S2CID 22473295.
Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, et al. (September 1994). "Mutations of two PMS homologues in hereditary nonpolyposis colon cancer". Nature. 371 (6492): 75–80. Bibcode:1994Natur.371...75N. doi:10.1038/371075a0. PMID 8072530. S2CID 4244907.
Lu SL, Kawabata M, Imamura T, Akiyama Y, Nomizu T, Miyazono K, Yuasa Y (May 1998). "HNPCC associated with germline mutation in the TGF-beta type II receptor gene". Nature Genetics. 19 (1): 17–8. doi:10.1038/ng0598-17. PMID 9590282. S2CID 46658147.
Ou J, Rasmussen M, Westers H, Andersen SD, Jager PO, Kooi KA, et al. (April 2009). "Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome" (PDF). Genes, Chromosomes & Cancer. 48 (4): 340–50. doi:10.1002/gcc.20644. hdl:11370/b74f7d2b-12fb-4bfc-a8c8-2d8950e81972. PMID 19156873. S2CID 15526044.
Ramsoekh D, Wagner A, van Leerdam ME, Dinjens WN, Steyerberg EW, Halley DJ, et al. (November 2008). "A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting". Gut. 57 (11): 1539–44. doi:10.1136/gut.2008.156695. PMID 18625694. S2CID 10608978.
Suchy J, Lubinski J (June 2008). "MSH6 syndrome". Hereditary Cancer in Clinical Practice. 6 (2): 103–4. doi:10.1186/1897-4287-6-2-103. PMC 2735474. PMID 19804606.
Goldberg Y, Porat RM, Kedar I, Shochat C, Galinsky D, Hamburger T, et al. (June 2010). "An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC". Familial Cancer. 9 (2): 141–50. doi:10.1007/s10689-009-9298-9. PMID 19851887. S2CID 25479413.
Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, et al. (August 2014). "Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer". Gastroenterology. 147 (2): 502–26. doi:10.1053/j.gastro.2014.04.001. PMID 25043945.
Hildebrand, Lindsey A.; Pierce, Colin J.; Dennis, Michael; Paracha, Munizay; Maoz, Asaf (2021-01-21). "Artificial Intelligence for Histology-Based Detection of Microsatellite Instability and Prediction of Response to Immunotherapy in Colorectal Cancer". Cancers. 13 (3): 391. doi:10.3390/cancers13030391. ISSN 2072-6694. PMC 7864494. PMID 33494280.
Snowsill T, Huxley N, Hoyle M, Jones-Hughes T, Coelho H, Cooper C, et al. (September 2014). "A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome". Health Technology Assessment. 18 (58): 1–406. doi:10.3310/hta18580. PMC 4781313. PMID 25244061.
Snowsill T, Coelho H, Huxley N, Jones-Hughes T, Briscoe S, Frayling IM, Hyde C (September 2017). "Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation". Health Technology Assessment. 21 (51): 1–238. doi:10.3310/hta21510. PMC 5611555. PMID 28895526.
Evrard C, Tachon G, Randrian V, Karayan-Tapon L, Tougeron D (October 2019). "Microsatellite Instability: Diagnosis, Heterogeneity, Discordance, and Clinical Impact in Colorectal Cancer". Cancers. 11 (10): 1567. doi:10.3390/cancers11101567. PMC 6826728. PMID 31618962.
Nouri Nojadeh, Jafar; Behrouz Sharif, Shahin; Sakhinia, Ebrahim (2018). "Microsatellite instability in colorectal cancer" (PDF). EXCLI Journal. 17: 159–168. doi:10.17179/EXCLI2017-948. PMC 5938532. PMID 29743854.
Taieb, Julien; Svrcek, Magali; Cohen, Romain; Basile, Debora; Tougeron, David; Phelip, Jean-Marc (November 2022). "Deficient mismatch repair/microsatellite unstable colorectal cancer: Diagnosis, prognosis and treatment". European Journal of Cancer. 175: 136–157. doi:10.1016/j.ejca.2022.07.020. PMID 36115290. S2CID 252289107.
Monahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, et al. (March 2020). "Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)". Gut. 69 (3): 411–444. doi:10.1136/gutjnl-2019-319915. PMC 7034349. PMID 31780574.
Ring KL, Garcia C, Thomas MH, Modesitt SC (November 2017). "Current and future role of genetic screening in gynecologic malignancies". American Journal of Obstetrics and Gynecology. 217 (5): 512–521. doi:10.1016/j.ajog.2017.04.011. PMID 28411145. S2CID 29024566.
Sroczynski G, Gogollari A, Conrads-Frank A, Hallsson LR, Pashayan N, Widschwendter M, Siebert U (July 2020). "Cost-Effectiveness of Early Detection and Prevention Strategies for Endometrial Cancer-A Systematic Review". Cancers. 12 (7): 1874. doi:10.3390/cancers12071874. PMC 7408795. PMID 32664613.
Vasen, Hans F A; Blanco, Ignacio; Aktan-Collan, Katja; Gopie, Jessica P; Alonso, Angel; Aretz, Stefan; Bernstein, Inge; Bertario, Lucio; Burn, John; Capella, Gabriel; Colas, Chrystelle (June 2013). "Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts". Gut. 62 (6): 812–823. doi:10.1136/gutjnl-2012-304356. ISSN 0017-5749. PMC 3647358. PMID 23408351.
Vasen HF, Watson P, Mecklin JP, Lynch HT (June 1999). "New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC". Gastroenterology. 116 (6): 1453–6. doi:10.1016/S0016-5085(99)70510-X. PMID 10348829.
Vindigni SM, Kaz AM (April 2016). "Universal Screening of Colorectal Cancers for Lynch Syndrome: Challenges and Opportunities". Digestive Diseases and Sciences. 61 (4): 969–76. doi:10.1007/s10620-015-3964-6. PMID 26602911. S2CID 6014333.
Bui QM, Lin D, Ho W (February 2017). "Approach to Lynch Syndrome for the Gastroenterologist". Digestive Diseases and Sciences. 62 (2): 299–304. doi:10.1007/s10620-016-4346-4. PMID 27990589. S2CID 32833106.
Boland CR, Koi M, Chang DK, Carethers JM (2007). "The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch syndrome: from bench to bedside". Familial Cancer. 7 (1): 41–52. doi:10.1007/s10689-007-9145-9. PMC 2847875. PMID 17636426.
Le DT, Uram JN, Wang H, Bartlett BR, Kemberling H, Eyring AD, et al. (June 2015). "PD-1 Blockade in Tumors with Mismatch-Repair Deficiency". The New England Journal of Medicine. 372 (26): 2509–20. doi:10.1056/NEJMoa1500596. PMC 4481136. PMID 26028255.
André, Thierry; Shiu, Kai-Keen; Kim, Tae Won; Jensen, Benny Vittrup; Jensen, Lars Henrik; Punt, Cornelis; Smith, Denis; Garcia-Carbonero, Rocio; Benavides, Manuel; Gibbs, Peter; de la Fouchardiere, Christelle; Rivera, Fernando; Elez, Elena; Bendell, Johanna; Le, Dung T.; Yoshino, Takayuki; Van Cutsem, Eric; Yang, Ping; Farooqui, Mohammed Z.H.; Marinello, Patricia; Diaz, Luis A. (3 December 2020). "Pembrolizumab in Microsatellite-Instability–High Advanced Colorectal Cancer". New England Journal of Medicine. 383 (23): 2207–2218. doi:10.1056/NEJMoa2017699. PMID 33264544. S2CID 227259533.
Boland PM, Yurgelun MB, Boland CR (May 2018). "Recent progress in Lynch syndrome and other familial colorectal cancer syndromes". CA: A Cancer Journal for Clinicians. 68 (3): 217–231. doi:10.3322/caac.21448. PMC 5980692. PMID 29485237.
Biller LH, Syngal S, Yurgelun MB (April 2019). "Recent advances in Lynch syndrome". Familial Cancer. 18 (2): 211–219. doi:10.1007/s10689-018-00117-1. PMC 6450737. PMID 30627969.
Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krush AJ (February 1966). "Hereditary factors in cancer. Study of two large midwestern kindreds". Archives of Internal Medicine. 117 (2): 206–12. doi:10.1001/archinte.117.2.206. PMID 5901552.
Bellizzi AM, Frankel WL (November 2009). "Colorectal cancer due to deficiency in DNA mismatch repair function: a review". Advances in Anatomic Pathology. 16 (6): 405–17. doi:10.1097/PAP.0b013e3181bb6bdc. PMID 19851131. S2CID 25600795.
Lindor NM (October 2009). "Familial colorectal cancer type X: the other half of hereditary nonpolyposis colon cancer syndrome". Surgical Oncology Clinics of North America. 18 (4): 637–45. doi:10.1016/j.soc.2009.07.003. PMC 3454516. PMID 19793571.
Lindor NM, Rabe K, Petersen GM, Haile R, Casey G, Baron J, et al. (April 2005). "Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X". JAMA. 293 (16): 1979–85. doi:10.1001/jama.293.16.1979. PMC 2933042. PMID 15855431.
Scott RJ, McPhillips M, Meldrum CJ, Fitzgerald PE, Adams K, Spigelman AD, et al. (January 2001). "Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds". American Journal of Human Genetics. 68 (1): 118–127. doi:10.1086/316942. PMC 1234904. PMID 11112663.
Gologan A, Krasinskas A, Hunt J, Thull DL, Farkas L, Sepulveda AR (November 2005). "Performance of the revised Bethesda guidelines for identification of colorectal carcinomas with a high level of microsatellite instability". Archives of Pathology & Laboratory Medicine. 129 (11): 1390–7. doi:10.5858/2005-129-1390-POTRBG. PMID 16253017.
Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, et al. (February 2004). "Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability". Journal of the National Cancer Institute. 96 (4): 261–8. doi:10.1093/jnci/djh034. PMC 2933058. PMID 14970275.
Lipton LR, Johnson V, Cummings C, Fisher S, Risby P, Eftekhar Sadat AT, et al. (December 2004). "Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic". Journal of Clinical Oncology. 22 (24): 4934–43. doi:10.1200/JCO.2004.11.084. PMID 15611508. Archived from the original on 2013-04-15.

dynamed.com

"Lynch Syndrome". DynaMed. February 22, 2019. Retrieved November 18, 2019.

elsevierhealth.com

journals.elsevierhealth.com

Lindor NM (October 2009). "Familial colorectal cancer type X: the other half of hereditary nonpolyposis colon cancer syndrome". Surgical Oncology Clinics of North America. 18 (4): 637–45. doi:10.1016/j.soc.2009.07.003. PMC 3454516. PMID 19793571.

excli.de

Nouri Nojadeh, Jafar; Behrouz Sharif, Shahin; Sakhinia, Ebrahim (2018). "Microsatellite instability in colorectal cancer" (PDF). EXCLI Journal. 17: 159–168. doi:10.17179/EXCLI2017-948. PMC 5938532. PMID 29743854.

genetics.edu.au

"Fact Sheet 33 | BOWEL CANCER AND INHERITED PREDISPOSITION". Archived from the original on 2019-02-28.

handle.net

hdl.handle.net

Ou J, Rasmussen M, Westers H, Andersen SD, Jager PO, Kooi KA, et al. (April 2009). "Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome" (PDF). Genes, Chromosomes & Cancer. 48 (4): 340–50. doi:10.1002/gcc.20644. hdl:11370/b74f7d2b-12fb-4bfc-a8c8-2d8950e81972. PMID 19156873. S2CID 15526044.

harvard.edu

ui.adsabs.harvard.edu

Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, et al. (March 1994). "Mutation of a mutL homolog in hereditary colon cancer". Science. 263 (5153): 1625–9. Bibcode:1994Sci...263.1625P. doi:10.1126/science.8128251. PMID 8128251.
Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, et al. (September 1994). "Mutations of two PMS homologues in hereditary nonpolyposis colon cancer". Nature. 371 (6492): 75–80. Bibcode:1994Natur.371...75N. doi:10.1038/371075a0. PMID 8072530. S2CID 4244907.

jco.org

Lipton LR, Johnson V, Cummings C, Fisher S, Risby P, Eftekhar Sadat AT, et al. (December 2004). "Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic". Journal of Clinical Oncology. 22 (24): 4934–43. doi:10.1200/JCO.2004.11.084. PMID 15611508. Archived from the original on 2013-04-15.

lynch-syndrome-uk.org

"Lynch Syndrome UK". Retrieved 31 March 2018.

medscape.com

emedicine.medscape.com

Hereditary Colorectal Cancer Background. From Medscape. By Juan Carlos Munoz and Louis R Lambiase. Updated: Oct 31, 2011

nih.gov

pubmed.ncbi.nlm.nih.gov

Carethers, John M; Stoffel, Elena M (2015-08-21). "Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer". World Journal of Gastroenterology. 21 (31): 9253–9261. doi:10.3748/wjg.v21.i31.9253. ISSN 1007-9327. PMC 4541378. PMID 26309352.
Kastrinos F, Mukherjee B, Tayob N, Wang F, Sparr J, Raymond VM, et al. (October 2009). "Risk of pancreatic cancer in families with Lynch syndrome". JAMA. 302 (16): 1790–5. doi:10.1001/jama.2009.1529. PMC 4091624. PMID 19861671.
Vogel JD, Eskicioglu C, Weiser MR, Feingold DL, Steele SR (October 2017). "The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Treatment of Colon Cancer". Diseases of the Colon and Rectum. 60 (10): 999–1017. doi:10.1097/DCR.0000000000000926. PMID 28891842.
Braun MM, Overbeek-Wager EA, Grumbo RJ (March 2016). "Diagnosis and Management of Endometrial Cancer". American Family Physician. 93 (6): 468–74. PMID 26977831.
Sobocińska, Joanna; Kolenda, Tomasz; Teresiak, Anna; Badziąg-Leśniak, Natalia; Kopczyńska, Magda; Guglas, Kacper; Przybyła, Anna; Filas, Violetta; Bogajewska-Ryłko, Elżbieta; Lamperska, Katarzyna; Mackiewicz, Andrzej (2020-10-05). "Diagnostics of Mutations in MMR/EPCAM Genes and Their Role in the Treatment and Care of Patients with Lynch Syndrome". Diagnostics. 10 (10): 786. doi:10.3390/diagnostics10100786. ISSN 2075-4418. PMC 7600989. PMID 33027913.
Møller, Pål; Seppälä, Toni T.; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paulo; Gareth Evans, D.; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf H.; Jeffries, Jacqueline (2018). "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. 67 (7): 1306–1316. doi:10.1136/gutjnl-2017-314057. ISSN 1468-3288. PMC 6031262. PMID 28754778.
Ring, Kari L.; Garcia, Christine; Thomas, Martha H.; Modesitt, Susan C. (2017). "Current and future role of genetic screening in gynecologic malignancies". American Journal of Obstetrics and Gynecology. 217 (5): 512–521. doi:10.1016/j.ajog.2017.04.011. ISSN 1097-6868. PMID 28411145. S2CID 29024566.
Oki E, Oda S, Maehara Y, Sugimachi K (March 1999). "Mutated gene-specific phenotypes of dinucleotide repeat instability in human colorectal carcinoma cell lines deficient in DNA mismatch repair". Oncogene. 18 (12): 2143–7. doi:10.1038/sj.onc.1202583. PMID 10321739.
Yokoyama T, Takehara K, Sugimoto N, Kaneko K, Fujimoto E, Okazawa-Sakai M, et al. (May 2018). "Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review". BMC Cancer. 18 (1): 576. doi:10.1186/s12885-018-4489-0. PMC 5963021. PMID 29783979.
Peltomäki P (March 2003). "Role of DNA mismatch repair defects in the pathogenesis of human cancer". Journal of Clinical Oncology. 21 (6): 1174–9. doi:10.1200/JCO.2003.04.060. PMID 12637487.
Tamura K, Kaneda M, Futagawa M, Takeshita M, Kim S, Nakama M, et al. (September 2019). "Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome". International Journal of Clinical Oncology. 24 (9): 999–1011. doi:10.1007/s10147-019-01494-y. PMID 31273487. S2CID 195795805.
Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, et al. (December 1993). "The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer". Cell. 75 (5): 1027–38. doi:10.1016/0092-8674(93)90546-3. PMID 8252616.
Yurgelun MB, Hampel H (May 2018). "Recent Advances in Lynch Syndrome: Diagnosis, Treatment, and Cancer Prevention". American Society of Clinical Oncology Educational Book. American Society of Clinical Oncology. Annual Meeting. 38 (38): 101–109. doi:10.1200/EDBK_208341. PMID 30231390.
Le S, Ansari U, Mumtaz A, Malik K, Patel P, Doyle A, Khachemoune A (November 2017). "Lynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology, and management of two related disorders". Dermatology Online Journal. 23 (11). doi:10.5070/D32311037239. PMID 29447627.
Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, et al. (March 1994). "Mutation of a mutL homolog in hereditary colon cancer". Science. 263 (5153): 1625–9. Bibcode:1994Sci...263.1625P. doi:10.1126/science.8128251. PMID 8128251.
Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, et al. (November 1997). "Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer". Nature Genetics. 17 (3): 271–2. doi:10.1038/ng1197-271. PMID 9354786. S2CID 22473295.
Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, et al. (September 1994). "Mutations of two PMS homologues in hereditary nonpolyposis colon cancer". Nature. 371 (6492): 75–80. Bibcode:1994Natur.371...75N. doi:10.1038/371075a0. PMID 8072530. S2CID 4244907.
Lu SL, Kawabata M, Imamura T, Akiyama Y, Nomizu T, Miyazono K, Yuasa Y (May 1998). "HNPCC associated with germline mutation in the TGF-beta type II receptor gene". Nature Genetics. 19 (1): 17–8. doi:10.1038/ng0598-17. PMID 9590282. S2CID 46658147.
Ou J, Rasmussen M, Westers H, Andersen SD, Jager PO, Kooi KA, et al. (April 2009). "Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome" (PDF). Genes, Chromosomes & Cancer. 48 (4): 340–50. doi:10.1002/gcc.20644. hdl:11370/b74f7d2b-12fb-4bfc-a8c8-2d8950e81972. PMID 19156873. S2CID 15526044.
Ramsoekh D, Wagner A, van Leerdam ME, Dinjens WN, Steyerberg EW, Halley DJ, et al. (November 2008). "A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting". Gut. 57 (11): 1539–44. doi:10.1136/gut.2008.156695. PMID 18625694. S2CID 10608978.
Suchy J, Lubinski J (June 2008). "MSH6 syndrome". Hereditary Cancer in Clinical Practice. 6 (2): 103–4. doi:10.1186/1897-4287-6-2-103. PMC 2735474. PMID 19804606.
Goldberg Y, Porat RM, Kedar I, Shochat C, Galinsky D, Hamburger T, et al. (June 2010). "An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC". Familial Cancer. 9 (2): 141–50. doi:10.1007/s10689-009-9298-9. PMID 19851887. S2CID 25479413.
Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, et al. (August 2014). "Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer". Gastroenterology. 147 (2): 502–26. doi:10.1053/j.gastro.2014.04.001. PMID 25043945.
Hildebrand, Lindsey A.; Pierce, Colin J.; Dennis, Michael; Paracha, Munizay; Maoz, Asaf (2021-01-21). "Artificial Intelligence for Histology-Based Detection of Microsatellite Instability and Prediction of Response to Immunotherapy in Colorectal Cancer". Cancers. 13 (3): 391. doi:10.3390/cancers13030391. ISSN 2072-6694. PMC 7864494. PMID 33494280.
Snowsill T, Huxley N, Hoyle M, Jones-Hughes T, Coelho H, Cooper C, et al. (September 2014). "A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome". Health Technology Assessment. 18 (58): 1–406. doi:10.3310/hta18580. PMC 4781313. PMID 25244061.
Snowsill T, Coelho H, Huxley N, Jones-Hughes T, Briscoe S, Frayling IM, Hyde C (September 2017). "Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation". Health Technology Assessment. 21 (51): 1–238. doi:10.3310/hta21510. PMC 5611555. PMID 28895526.
Evrard C, Tachon G, Randrian V, Karayan-Tapon L, Tougeron D (October 2019). "Microsatellite Instability: Diagnosis, Heterogeneity, Discordance, and Clinical Impact in Colorectal Cancer". Cancers. 11 (10): 1567. doi:10.3390/cancers11101567. PMC 6826728. PMID 31618962.
Nouri Nojadeh, Jafar; Behrouz Sharif, Shahin; Sakhinia, Ebrahim (2018). "Microsatellite instability in colorectal cancer" (PDF). EXCLI Journal. 17: 159–168. doi:10.17179/EXCLI2017-948. PMC 5938532. PMID 29743854.
Taieb, Julien; Svrcek, Magali; Cohen, Romain; Basile, Debora; Tougeron, David; Phelip, Jean-Marc (November 2022). "Deficient mismatch repair/microsatellite unstable colorectal cancer: Diagnosis, prognosis and treatment". European Journal of Cancer. 175: 136–157. doi:10.1016/j.ejca.2022.07.020. PMID 36115290. S2CID 252289107.
Monahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, et al. (March 2020). "Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)". Gut. 69 (3): 411–444. doi:10.1136/gutjnl-2019-319915. PMC 7034349. PMID 31780574.
Ring KL, Garcia C, Thomas MH, Modesitt SC (November 2017). "Current and future role of genetic screening in gynecologic malignancies". American Journal of Obstetrics and Gynecology. 217 (5): 512–521. doi:10.1016/j.ajog.2017.04.011. PMID 28411145. S2CID 29024566.
Sroczynski G, Gogollari A, Conrads-Frank A, Hallsson LR, Pashayan N, Widschwendter M, Siebert U (July 2020). "Cost-Effectiveness of Early Detection and Prevention Strategies for Endometrial Cancer-A Systematic Review". Cancers. 12 (7): 1874. doi:10.3390/cancers12071874. PMC 7408795. PMID 32664613.
Vasen, Hans F A; Blanco, Ignacio; Aktan-Collan, Katja; Gopie, Jessica P; Alonso, Angel; Aretz, Stefan; Bernstein, Inge; Bertario, Lucio; Burn, John; Capella, Gabriel; Colas, Chrystelle (June 2013). "Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts". Gut. 62 (6): 812–823. doi:10.1136/gutjnl-2012-304356. ISSN 0017-5749. PMC 3647358. PMID 23408351.
Vasen HF, Watson P, Mecklin JP, Lynch HT (June 1999). "New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC". Gastroenterology. 116 (6): 1453–6. doi:10.1016/S0016-5085(99)70510-X. PMID 10348829.
Vindigni SM, Kaz AM (April 2016). "Universal Screening of Colorectal Cancers for Lynch Syndrome: Challenges and Opportunities". Digestive Diseases and Sciences. 61 (4): 969–76. doi:10.1007/s10620-015-3964-6. PMID 26602911. S2CID 6014333.
Bui QM, Lin D, Ho W (February 2017). "Approach to Lynch Syndrome for the Gastroenterologist". Digestive Diseases and Sciences. 62 (2): 299–304. doi:10.1007/s10620-016-4346-4. PMID 27990589. S2CID 32833106.
Stjepanovic N, Moreira L, Carneiro F, Balaguer F, Cervantes A, Balmaña J, Martinelli E; ESMO Guidelines Committee. Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow- up†. Ann Oncol. 2019 Oct 1;30(10):1558-1571. doi: 10.1093/annonc/mdz233. PMID 31378807.
Boland CR, Koi M, Chang DK, Carethers JM (2007). "The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch syndrome: from bench to bedside". Familial Cancer. 7 (1): 41–52. doi:10.1007/s10689-007-9145-9. PMC 2847875. PMID 17636426.
Le DT, Uram JN, Wang H, Bartlett BR, Kemberling H, Eyring AD, et al. (June 2015). "PD-1 Blockade in Tumors with Mismatch-Repair Deficiency". The New England Journal of Medicine. 372 (26): 2509–20. doi:10.1056/NEJMoa1500596. PMC 4481136. PMID 26028255.
André, Thierry; Shiu, Kai-Keen; Kim, Tae Won; Jensen, Benny Vittrup; Jensen, Lars Henrik; Punt, Cornelis; Smith, Denis; Garcia-Carbonero, Rocio; Benavides, Manuel; Gibbs, Peter; de la Fouchardiere, Christelle; Rivera, Fernando; Elez, Elena; Bendell, Johanna; Le, Dung T.; Yoshino, Takayuki; Van Cutsem, Eric; Yang, Ping; Farooqui, Mohammed Z.H.; Marinello, Patricia; Diaz, Luis A. (3 December 2020). "Pembrolizumab in Microsatellite-Instability–High Advanced Colorectal Cancer". New England Journal of Medicine. 383 (23): 2207–2218. doi:10.1056/NEJMoa2017699. PMID 33264544. S2CID 227259533.
Boland PM, Yurgelun MB, Boland CR (May 2018). "Recent progress in Lynch syndrome and other familial colorectal cancer syndromes". CA: A Cancer Journal for Clinicians. 68 (3): 217–231. doi:10.3322/caac.21448. PMC 5980692. PMID 29485237.
Biller LH, Syngal S, Yurgelun MB (April 2019). "Recent advances in Lynch syndrome". Familial Cancer. 18 (2): 211–219. doi:10.1007/s10689-018-00117-1. PMC 6450737. PMID 30627969.
Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krush AJ (February 1966). "Hereditary factors in cancer. Study of two large midwestern kindreds". Archives of Internal Medicine. 117 (2): 206–12. doi:10.1001/archinte.117.2.206. PMID 5901552.
Bellizzi AM, Frankel WL (November 2009). "Colorectal cancer due to deficiency in DNA mismatch repair function: a review". Advances in Anatomic Pathology. 16 (6): 405–17. doi:10.1097/PAP.0b013e3181bb6bdc. PMID 19851131. S2CID 25600795.
Lindor NM (October 2009). "Familial colorectal cancer type X: the other half of hereditary nonpolyposis colon cancer syndrome". Surgical Oncology Clinics of North America. 18 (4): 637–45. doi:10.1016/j.soc.2009.07.003. PMC 3454516. PMID 19793571.
Lindor NM, Rabe K, Petersen GM, Haile R, Casey G, Baron J, et al. (April 2005). "Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X". JAMA. 293 (16): 1979–85. doi:10.1001/jama.293.16.1979. PMC 2933042. PMID 15855431.
Scott RJ, McPhillips M, Meldrum CJ, Fitzgerald PE, Adams K, Spigelman AD, et al. (January 2001). "Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds". American Journal of Human Genetics. 68 (1): 118–127. doi:10.1086/316942. PMC 1234904. PMID 11112663.
Gologan A, Krasinskas A, Hunt J, Thull DL, Farkas L, Sepulveda AR (November 2005). "Performance of the revised Bethesda guidelines for identification of colorectal carcinomas with a high level of microsatellite instability". Archives of Pathology & Laboratory Medicine. 129 (11): 1390–7. doi:10.5858/2005-129-1390-POTRBG. PMID 16253017.
Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, et al. (February 2004). "Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability". Journal of the National Cancer Institute. 96 (4): 261–8. doi:10.1093/jnci/djh034. PMC 2933058. PMID 14970275.
Lipton LR, Johnson V, Cummings C, Fisher S, Risby P, Eftekhar Sadat AT, et al. (December 2004). "Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic". Journal of Clinical Oncology. 22 (24): 4934–43. doi:10.1200/JCO.2004.11.084. PMID 15611508. Archived from the original on 2013-04-15.

ncbi.nlm.nih.gov

Carethers, John M; Stoffel, Elena M (2015-08-21). "Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer". World Journal of Gastroenterology. 21 (31): 9253–9261. doi:10.3748/wjg.v21.i31.9253. ISSN 1007-9327. PMC 4541378. PMID 26309352.
Kastrinos F, Mukherjee B, Tayob N, Wang F, Sparr J, Raymond VM, et al. (October 2009). "Risk of pancreatic cancer in families with Lynch syndrome". JAMA. 302 (16): 1790–5. doi:10.1001/jama.2009.1529. PMC 4091624. PMID 19861671.
Sobocińska, Joanna; Kolenda, Tomasz; Teresiak, Anna; Badziąg-Leśniak, Natalia; Kopczyńska, Magda; Guglas, Kacper; Przybyła, Anna; Filas, Violetta; Bogajewska-Ryłko, Elżbieta; Lamperska, Katarzyna; Mackiewicz, Andrzej (2020-10-05). "Diagnostics of Mutations in MMR/EPCAM Genes and Their Role in the Treatment and Care of Patients with Lynch Syndrome". Diagnostics. 10 (10): 786. doi:10.3390/diagnostics10100786. ISSN 2075-4418. PMC 7600989. PMID 33027913.
Møller, Pål; Seppälä, Toni T.; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paulo; Gareth Evans, D.; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf H.; Jeffries, Jacqueline (2018). "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. 67 (7): 1306–1316. doi:10.1136/gutjnl-2017-314057. ISSN 1468-3288. PMC 6031262. PMID 28754778.
Yokoyama T, Takehara K, Sugimoto N, Kaneko K, Fujimoto E, Okazawa-Sakai M, et al. (May 2018). "Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review". BMC Cancer. 18 (1): 576. doi:10.1186/s12885-018-4489-0. PMC 5963021. PMID 29783979.
Suchy J, Lubinski J (June 2008). "MSH6 syndrome". Hereditary Cancer in Clinical Practice. 6 (2): 103–4. doi:10.1186/1897-4287-6-2-103. PMC 2735474. PMID 19804606.
Hildebrand, Lindsey A.; Pierce, Colin J.; Dennis, Michael; Paracha, Munizay; Maoz, Asaf (2021-01-21). "Artificial Intelligence for Histology-Based Detection of Microsatellite Instability and Prediction of Response to Immunotherapy in Colorectal Cancer". Cancers. 13 (3): 391. doi:10.3390/cancers13030391. ISSN 2072-6694. PMC 7864494. PMID 33494280.
Snowsill T, Huxley N, Hoyle M, Jones-Hughes T, Coelho H, Cooper C, et al. (September 2014). "A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome". Health Technology Assessment. 18 (58): 1–406. doi:10.3310/hta18580. PMC 4781313. PMID 25244061.
Snowsill T, Coelho H, Huxley N, Jones-Hughes T, Briscoe S, Frayling IM, Hyde C (September 2017). "Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation". Health Technology Assessment. 21 (51): 1–238. doi:10.3310/hta21510. PMC 5611555. PMID 28895526.
Evrard C, Tachon G, Randrian V, Karayan-Tapon L, Tougeron D (October 2019). "Microsatellite Instability: Diagnosis, Heterogeneity, Discordance, and Clinical Impact in Colorectal Cancer". Cancers. 11 (10): 1567. doi:10.3390/cancers11101567. PMC 6826728. PMID 31618962.
Nouri Nojadeh, Jafar; Behrouz Sharif, Shahin; Sakhinia, Ebrahim (2018). "Microsatellite instability in colorectal cancer" (PDF). EXCLI Journal. 17: 159–168. doi:10.17179/EXCLI2017-948. PMC 5938532. PMID 29743854.
Monahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, et al. (March 2020). "Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)". Gut. 69 (3): 411–444. doi:10.1136/gutjnl-2019-319915. PMC 7034349. PMID 31780574.
Sroczynski G, Gogollari A, Conrads-Frank A, Hallsson LR, Pashayan N, Widschwendter M, Siebert U (July 2020). "Cost-Effectiveness of Early Detection and Prevention Strategies for Endometrial Cancer-A Systematic Review". Cancers. 12 (7): 1874. doi:10.3390/cancers12071874. PMC 7408795. PMID 32664613.
Vasen, Hans F A; Blanco, Ignacio; Aktan-Collan, Katja; Gopie, Jessica P; Alonso, Angel; Aretz, Stefan; Bernstein, Inge; Bertario, Lucio; Burn, John; Capella, Gabriel; Colas, Chrystelle (June 2013). "Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts". Gut. 62 (6): 812–823. doi:10.1136/gutjnl-2012-304356. ISSN 0017-5749. PMC 3647358. PMID 23408351.
Boland CR, Koi M, Chang DK, Carethers JM (2007). "The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch syndrome: from bench to bedside". Familial Cancer. 7 (1): 41–52. doi:10.1007/s10689-007-9145-9. PMC 2847875. PMID 17636426.
Le DT, Uram JN, Wang H, Bartlett BR, Kemberling H, Eyring AD, et al. (June 2015). "PD-1 Blockade in Tumors with Mismatch-Repair Deficiency". The New England Journal of Medicine. 372 (26): 2509–20. doi:10.1056/NEJMoa1500596. PMC 4481136. PMID 26028255.
Boland PM, Yurgelun MB, Boland CR (May 2018). "Recent progress in Lynch syndrome and other familial colorectal cancer syndromes". CA: A Cancer Journal for Clinicians. 68 (3): 217–231. doi:10.3322/caac.21448. PMC 5980692. PMID 29485237.
Biller LH, Syngal S, Yurgelun MB (April 2019). "Recent advances in Lynch syndrome". Familial Cancer. 18 (2): 211–219. doi:10.1007/s10689-018-00117-1. PMC 6450737. PMID 30627969.
Lindor NM (October 2009). "Familial colorectal cancer type X: the other half of hereditary nonpolyposis colon cancer syndrome". Surgical Oncology Clinics of North America. 18 (4): 637–45. doi:10.1016/j.soc.2009.07.003. PMC 3454516. PMID 19793571.
Lindor NM, Rabe K, Petersen GM, Haile R, Casey G, Baron J, et al. (April 2005). "Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X". JAMA. 293 (16): 1979–85. doi:10.1001/jama.293.16.1979. PMC 2933042. PMID 15855431.
Scott RJ, McPhillips M, Meldrum CJ, Fitzgerald PE, Adams K, Spigelman AD, et al. (January 2001). "Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds". American Journal of Human Genetics. 68 (1): 118–127. doi:10.1086/316942. PMC 1234904. PMID 11112663.
Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, et al. (February 2004). "Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability". Journal of the National Cancer Institute. 96 (4): 261–8. doi:10.1093/jnci/djh034. PMC 2933058. PMID 14970275.

ghr.nlm.nih.gov

"Lynch Syndrome". Genetics Home Reference.

oncolink.org

"Oncolink". www.oncolink.org. Archived from the original on July 22, 2011.

rug.nl

pure.rug.nl

Ou J, Rasmussen M, Westers H, Andersen SD, Jager PO, Kooi KA, et al. (April 2009). "Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome" (PDF). Genes, Chromosomes & Cancer. 48 (4): 340–50. doi:10.1002/gcc.20644. hdl:11370/b74f7d2b-12fb-4bfc-a8c8-2d8950e81972. PMID 19156873. S2CID 15526044.

semanticscholar.org

api.semanticscholar.org

Ring, Kari L.; Garcia, Christine; Thomas, Martha H.; Modesitt, Susan C. (2017). "Current and future role of genetic screening in gynecologic malignancies". American Journal of Obstetrics and Gynecology. 217 (5): 512–521. doi:10.1016/j.ajog.2017.04.011. ISSN 1097-6868. PMID 28411145. S2CID 29024566.
Tamura K, Kaneda M, Futagawa M, Takeshita M, Kim S, Nakama M, et al. (September 2019). "Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome". International Journal of Clinical Oncology. 24 (9): 999–1011. doi:10.1007/s10147-019-01494-y. PMID 31273487. S2CID 195795805.
Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, et al. (November 1997). "Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer". Nature Genetics. 17 (3): 271–2. doi:10.1038/ng1197-271. PMID 9354786. S2CID 22473295.
Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, et al. (September 1994). "Mutations of two PMS homologues in hereditary nonpolyposis colon cancer". Nature. 371 (6492): 75–80. Bibcode:1994Natur.371...75N. doi:10.1038/371075a0. PMID 8072530. S2CID 4244907.
Lu SL, Kawabata M, Imamura T, Akiyama Y, Nomizu T, Miyazono K, Yuasa Y (May 1998). "HNPCC associated with germline mutation in the TGF-beta type II receptor gene". Nature Genetics. 19 (1): 17–8. doi:10.1038/ng0598-17. PMID 9590282. S2CID 46658147.
Ou J, Rasmussen M, Westers H, Andersen SD, Jager PO, Kooi KA, et al. (April 2009). "Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome" (PDF). Genes, Chromosomes & Cancer. 48 (4): 340–50. doi:10.1002/gcc.20644. hdl:11370/b74f7d2b-12fb-4bfc-a8c8-2d8950e81972. PMID 19156873. S2CID 15526044.
Ramsoekh D, Wagner A, van Leerdam ME, Dinjens WN, Steyerberg EW, Halley DJ, et al. (November 2008). "A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting". Gut. 57 (11): 1539–44. doi:10.1136/gut.2008.156695. PMID 18625694. S2CID 10608978.
Goldberg Y, Porat RM, Kedar I, Shochat C, Galinsky D, Hamburger T, et al. (June 2010). "An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC". Familial Cancer. 9 (2): 141–50. doi:10.1007/s10689-009-9298-9. PMID 19851887. S2CID 25479413.
Taieb, Julien; Svrcek, Magali; Cohen, Romain; Basile, Debora; Tougeron, David; Phelip, Jean-Marc (November 2022). "Deficient mismatch repair/microsatellite unstable colorectal cancer: Diagnosis, prognosis and treatment". European Journal of Cancer. 175: 136–157. doi:10.1016/j.ejca.2022.07.020. PMID 36115290. S2CID 252289107.
Ring KL, Garcia C, Thomas MH, Modesitt SC (November 2017). "Current and future role of genetic screening in gynecologic malignancies". American Journal of Obstetrics and Gynecology. 217 (5): 512–521. doi:10.1016/j.ajog.2017.04.011. PMID 28411145. S2CID 29024566.
Vindigni SM, Kaz AM (April 2016). "Universal Screening of Colorectal Cancers for Lynch Syndrome: Challenges and Opportunities". Digestive Diseases and Sciences. 61 (4): 969–76. doi:10.1007/s10620-015-3964-6. PMID 26602911. S2CID 6014333.
Bui QM, Lin D, Ho W (February 2017). "Approach to Lynch Syndrome for the Gastroenterologist". Digestive Diseases and Sciences. 62 (2): 299–304. doi:10.1007/s10620-016-4346-4. PMID 27990589. S2CID 32833106.
André, Thierry; Shiu, Kai-Keen; Kim, Tae Won; Jensen, Benny Vittrup; Jensen, Lars Henrik; Punt, Cornelis; Smith, Denis; Garcia-Carbonero, Rocio; Benavides, Manuel; Gibbs, Peter; de la Fouchardiere, Christelle; Rivera, Fernando; Elez, Elena; Bendell, Johanna; Le, Dung T.; Yoshino, Takayuki; Van Cutsem, Eric; Yang, Ping; Farooqui, Mohammed Z.H.; Marinello, Patricia; Diaz, Luis A. (3 December 2020). "Pembrolizumab in Microsatellite-Instability–High Advanced Colorectal Cancer". New England Journal of Medicine. 383 (23): 2207–2218. doi:10.1056/NEJMoa2017699. PMID 33264544. S2CID 227259533.
Bellizzi AM, Frankel WL (November 2009). "Colorectal cancer due to deficiency in DNA mismatch repair function: a review". Advances in Anatomic Pathology. 16 (6): 405–17. doi:10.1097/PAP.0b013e3181bb6bdc. PMID 19851131. S2CID 25600795.

web.archive.org

Hoffman BL (2012). "Chapter 33: Endometrial Cancer". Williams Gynecology (2nd ed.). New York: McGraw-Hill Medical. ISBN 978-0071716727. Archived from the original on 2014-01-04. Retrieved 2014-06-23.
Pathology of Hereditary Nonpolyposis Colorectal Cancer - JASS 910 (1): 62 - Annals of the New York Academy of Sciences Archived 2006-06-19 at the Wayback Machine
"Fact Sheet 33 | BOWEL CANCER AND INHERITED PREDISPOSITION". Archived from the original on 2019-02-28.
"Oncolink". www.oncolink.org. Archived from the original on July 22, 2011.

worldcat.org

Carethers, John M; Stoffel, Elena M (2015-08-21). "Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer". World Journal of Gastroenterology. 21 (31): 9253–9261. doi:10.3748/wjg.v21.i31.9253. ISSN 1007-9327. PMC 4541378. PMID 26309352.
Sobocińska, Joanna; Kolenda, Tomasz; Teresiak, Anna; Badziąg-Leśniak, Natalia; Kopczyńska, Magda; Guglas, Kacper; Przybyła, Anna; Filas, Violetta; Bogajewska-Ryłko, Elżbieta; Lamperska, Katarzyna; Mackiewicz, Andrzej (2020-10-05). "Diagnostics of Mutations in MMR/EPCAM Genes and Their Role in the Treatment and Care of Patients with Lynch Syndrome". Diagnostics. 10 (10): 786. doi:10.3390/diagnostics10100786. ISSN 2075-4418. PMC 7600989. PMID 33027913.
Møller, Pål; Seppälä, Toni T.; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paulo; Gareth Evans, D.; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf H.; Jeffries, Jacqueline (2018). "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. 67 (7): 1306–1316. doi:10.1136/gutjnl-2017-314057. ISSN 1468-3288. PMC 6031262. PMID 28754778.
Ring, Kari L.; Garcia, Christine; Thomas, Martha H.; Modesitt, Susan C. (2017). "Current and future role of genetic screening in gynecologic malignancies". American Journal of Obstetrics and Gynecology. 217 (5): 512–521. doi:10.1016/j.ajog.2017.04.011. ISSN 1097-6868. PMID 28411145. S2CID 29024566.
Hildebrand, Lindsey A.; Pierce, Colin J.; Dennis, Michael; Paracha, Munizay; Maoz, Asaf (2021-01-21). "Artificial Intelligence for Histology-Based Detection of Microsatellite Instability and Prediction of Response to Immunotherapy in Colorectal Cancer". Cancers. 13 (3): 391. doi:10.3390/cancers13030391. ISSN 2072-6694. PMC 7864494. PMID 33494280.
Vasen, Hans F A; Blanco, Ignacio; Aktan-Collan, Katja; Gopie, Jessica P; Alonso, Angel; Aretz, Stefan; Bernstein, Inge; Bertario, Lucio; Burn, John; Capella, Gabriel; Colas, Chrystelle (June 2013). "Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts". Gut. 62 (6): 812–823. doi:10.1136/gutjnl-2012-304356. ISSN 0017-5749. PMC 3647358. PMID 23408351.