{"id":625891,"date":"2026-10-10T00:16:18","date_gmt":"2026-10-10T00:16:18","guid":{"rendered":"https:\/\/www.newsbeep.com\/nz\/625891\/"},"modified":"2026-10-10T00:16:18","modified_gmt":"2026-10-10T00:16:18","slug":"characterisation-of-a-portuguese-origin-founder-missense-variant-in-msh6","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/nz\/625891\/","title":{"rendered":"Characterisation of a Portuguese origin founder missense variant in MSH6"},"content":{"rendered":"

Gallon R, Gawthorpe P, Phelps RL, Hayes C, Borthwick GM, Santibanez-Koref M, et al. How should we test for Lynch syndrome? A review of current guidelines and future strategies. Cancers. 2021;13:406. https:\/\/doi.org\/10.3390\/cancers13030406<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n PubMed Central<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Peltom\u00e4ki P. Update on Lynch syndrome genomics. Fam Cancer. 2016;15:385\u201393. https:\/\/doi.org\/10.1007\/s10689-016-9882-8<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n PubMed Central<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Dominguez-Valentin M, Sampson JR, Sepp\u00e4l\u00e4 TT, ten Broeke SW, Plazzer JP, Nakken S, et al. Cancer risks by gene, age and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. Genet Med. 2020;22:15\u201325. https:\/\/doi.org\/10.1038\/s41436-019-0596-9<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

van der Werf-\u2018t Lam AS, Dowty JG, Italia M, Bakker AC, Koops F, Bleeker F, et al. Cancer risks for MSH6 pathogenic variant carriers. Eur J Cancer. 2025;231:116098. https:\/\/doi.org\/10.1016\/j.ejca.2025.116098<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Elze L, van der Post RS, Vos JR, Mensenkamp AR, de Hullu MSC, Nagtegaal ID, et al. Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome. J Natl Cancer Inst. 2023;115:853\u201360. https:\/\/doi.org\/10.1093\/jnci\/djad063<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n PubMed Central<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Chen W, Hampel H, Pearlman R, Jones D, Zhao W, Alsomali M, et al. Unexpected expression of mismatch repair protein is more commonly seen with pathogenic missense than with other mutations in Lynch syndrome. Hum Pathol. 2020;103:34\u201341. https:\/\/doi.org\/10.1016\/j.humpath.2020.07.001<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n PubMed Central<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Castellsagu\u00e9 E, Liu J, Volenik A, Giroux S, Gagn\u00e9 R, Maranda B, et al. Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population. Clin Genet. 2015;87:536\u201342. https:\/\/doi.org\/10.1111\/cge.12526<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Raskin L, Schwenter F, Freytsis M, Tischkowitz M, Wong N, Chong G, et al. Characterization of two Ashkenazi Jewish founder mutations in the MSH6 gene causing Lynch syndrome. Clin Genet. 2011;79:512\u201322. https:\/\/doi.org\/10.1111\/j.1399-0004.2010.01594.x<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Pinto C, Pinheiro M, Peixoto A, Santos C, Veiga I, Rocha P, et al. Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families, evidencing that not all truncating mutations are equal. J Hum Genet. 2016;61:151\u20136. https:\/\/doi.org\/10.1038\/jhg.2015.124<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Pinheiro M, Francisco I, Pinto C, Peixoto A, Veiga I, Filipe B, et al. The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families. Genes Chromosomes Cancer. 2019;58:657\u201364. https:\/\/doi.org\/10.1002\/gcc.22759<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Pinheiro M, Pinto C, Peixoto A, Veiga I, Mesquita B, Henrique R, et al. The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families. Clin Genet. 2013;84:244\u201350. https:\/\/doi.org\/10.1111\/cge.12062<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Pinheiro M, Pinto C, Peixoto A, Veiga I, Mesquita B, Henrique R, et al. A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families. Genet Med. 2011;13:895\u2013902. https:\/\/doi.org\/10.1097\/GIM.0b013e31821dd525<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Guerrini-Rousseau L, Varlet P, Colas C, Andreiuolo F, Bourdeaut F, Dahan K, et al. Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium. Neurooncol Adv. 2019;1. vdz033. https:\/\/doi.org\/10.1093\/noajnl\/vdz033<\/a>.<\/p>\n

Article<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n PubMed Central<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Tavtigian SV, Harrison SM, Boucher KM, Biesecker LG. Fitting a naturally scaled point system to the ACMG\/AMP variant classification guidelines. Hum Mutat. 2020;41:1734\u20137. https:\/\/doi.org\/10.1002\/humu.24088<\/a>.<\/p>\n

Article<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n PubMed Central<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30<\/a>.<\/p>\n

Article<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n PubMed Central<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

CanVIG-UK. Mismatch repair genes: CanVIG-UK gene-specific guidance. Available from: https:\/\/www.cangene-canvaruk.org\/gene-specific-recommendations<\/a><\/p>\n

Feng BJ. COOL (Co-segregation Online) v3. 2026. Available from: https:\/\/fenglab.chpc.utah.edu\/cool3\/manual.html<\/a><\/p>\n

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, et al. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet. 2014;46:107\u201315. https:\/\/doi.org\/10.1038\/ng.2854<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Wang C, Feng M, Kou Y, Kuang W, Wang W, Liang D. Evaluation of microsatellite instability patterns in mismatch repair deficiency: a retrospective analysis of 285 endometrial cancers. Front Immunol. 2025;16:1628979. https:\/\/doi.org\/10.3389\/fimmu.2025.1628979<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n PubMed Central<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Helderman NC, Strobel F, Bohaumilitzky L, Terlouw D, van der Werf-\u2018t Lam AS, van Wezel T, et al. Lower degree of microsatellite instability in colorectal carcinomas from MSH6-associated Lynch syndrome patients. Mod Pathol. 2025;38:100757. https:\/\/doi.org\/10.1016\/j.modpat.2025.100757<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Frederiksen JH, Jensen SB, T\u00fcmer Z, Hansen TVO. Classification of MSH6 variants of uncertain significance using functional assays. Int J Mol Sci. 2021;22:8627 https:\/\/doi.org\/10.3390\/ijms22168627<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n PubMed Central<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

M\u00f8ller P, Sepp\u00e4l\u00e4 TT, Ahadova A, Crosbie EJ, Holinski-Feder E, Scott R, et al. Dominantly inherited microsatellite instability cancer – the four Lynch syndromes – an EHTG, PLSD position statement. Hered Cancer Clin Pract. 2023;21:19. https:\/\/doi.org\/10.1186\/s13053-023-00263-3<\/a>.<\/p>\n

Article<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n PubMed Central<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

National Comprehensive Cancer Network. Genetic\/familial high-risk assessment: colorectal, endometrial and gastric. Version 1.2025. Plymouth Meeting (PA): National Comprehensive Cancer Network; 2025. Available from: https:\/\/www.nccn.org\/guidelines\/guidelines-detail?category=2&id=1544<\/a><\/p>\n

Glykofridis IE, Dekker M, Stoepker C, van Ravesteyn TW, Tiersma Y, van der Ham CG, et al. An accurate cellular assay to determine pathogenicity of coding and noncoding variants in Lynch syndrome genes. Proc Natl Acad Sci USA. 2026;123:e2517801123. https:\/\/doi.org\/10.1073\/pnas.2517801123<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n PubMed Central<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n

Drost M, Tiersma Y, Thompson BA, Frederiksen JH, Keijzers G, Glubb D, et al. A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome. Genet Med. 2019;21:1486\u201396. https:\/\/doi.org\/10.1038\/s41436-018-0372-2<\/a>.<\/p>\n

Article<\/a>\u00a0
\n CAS<\/a>\u00a0
\n PubMed<\/a>\u00a0
\n
\n Google Scholar<\/a>\u00a0\n <\/p>\n","protected":false},"excerpt":{"rendered":"Gallon R, Gawthorpe P, Phelps RL, Hayes C, Borthwick GM, Santibanez-Koref M, et al. How should we test…\n","protected":false},"author":2,"featured_media":625892,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[7],"tags":[6896,6471,18342,5989,28404,67292,50508,2483,2294,2486,111,139,69,147],"class_list":["post-625891","post","type-post","status-publish","format-standard","has-post-thumbnail","category-science","tag-bioinformatics","tag-biomedicine","tag-cancer-genetics","tag-cancer-screening","tag-colorectal-cancer","tag-cytogenetics","tag-endometrial-cancer","tag-gene-expression","tag-general","tag-human-genetics","tag-new-zealand","tag-newzealand","tag-nz","tag-science"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/posts\/625891","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/comments?post=625891"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/posts\/625891\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/media\/625892"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/media?parent=625891"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/categories?post=625891"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/nz\/wp-json\/wp\/v2\/tags?post=625891"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}