Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort

Nagtegaal ID, Odze RD, Klimstra D et al (2020) The 2019 WHO classification of tumours of the digestive system. Histopathology 76:182–188. https://doi.org/10.1111/his.13975

Article  PubMed  Google Scholar 

Dominguez-Valentin M, Haupt S, Seppälä TT et al (2023) Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database. EClinicalMedicine 58:101909. https://doi.org/10.1016/j.eclinm.2023.101909

Article  PubMed  PubMed Central  Google Scholar 

Gallon R, Gawthorpe P, Phelps RL et al (2021) How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies. Cancers 13. https://doi.org/10.3390/cancers13030406

Lynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. N Engl J Med 348:919–932. https://doi.org/10.1056/NEJMra012242

Article  CAS  PubMed  Google Scholar 

Von Salomé J, Liu T, Keihäs M et al (2018) Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation. Fam Cancer 17:531–537. https://doi.org/10.1007/s10689-017-0067-x

Article  CAS  Google Scholar 

Steinke V, Engel C, Büttner R et al (2013) Hereditary Nonpolyposis Colorectal Cancer (HNPCC)/Lynch Syndrome. Dtsch Ärztebl Int 110:32–38. https://doi.org/10.3238/arztebl.2013.0032

Article  PubMed  PubMed Central  Google Scholar 

Sheth H, Jain A, Shah M et al (2023) Multicentric study for estimation of prevalence of microsatellite instability and Lynch syndrome amongst colorectal cancer patients in India. Res Sq. https://doi.org/10.21203/rs.3.rs-2361537/v1

Article  PubMed  PubMed Central  Google Scholar 

Vasen H, Mecklin J, Khan P, Lynch H (1991) The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Colon Rectum 34:424–425

Article  CAS  Google Scholar 

Vasen H, Watson P, Mecklin J, Lynch H (1999) New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterol 116:1453–1456

Article  CAS  Google Scholar 

Vasen H, Moslein G, Alonso A et al (2007) Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 44:353–362

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vasen H, Blanco I, Aktan-Collan K et al (2013) Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 62:812–823

Article  CAS  PubMed  Google Scholar 

Ponti G, Castellsagué E, Ruini C et al (2015) Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome. Clin Genet 87:507–516. https://doi.org/10.1111/cge.12529

Article  CAS  PubMed  Google Scholar 

Sheth H, Shah J, Nair A et al (2021) Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases. Front Genet 12:724824. https://doi.org/10.3389/fgene.2021.724824

Article  PubMed  PubMed Central  Google Scholar 

Sheth H, Naik P, Shah M et al (2022) The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome. BMC Genomics 23:458. https://doi.org/10.1186/s12864-022-08693-4

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zeegers MP, van Poppel F, Vlietinck R et al (2004) Founder mutations among the Dutch. Eur J Hum Genet 12:591–600. https://doi.org/10.1038/sj.ejhg.5201151

Article  CAS  PubMed  Google Scholar 

Nyström-Lahti M, Kristo P, Nicolaides NC et al (1995) Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med 1:1203–1206. https://doi.org/10.1038/nm1195-1203

Article  PubMed  Google Scholar 

Foulkes WD, Thiffault I, Gruber SB et al (2002) The founder mutation MSH2*1906G–>C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am J Hum Genet 71:1395–1412. https://doi.org/10.1086/345075

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tomsic J, Liyanarachchi S, Hampel H et al (2012) An American founder mutation in MLH1. Int J Cancer 130:2088–2095. https://doi.org/10.1002/ijc.26233

Article  CAS  PubMed  Google Scholar 

Borràs E, Pineda M, Blanco I et al (2010) MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families. Cancer Res 70:7379–7391. https://doi.org/10.1158/0008-5472.CAN-10-0570

Article  CAS  PubMed  Google Scholar 

Ellison AR, Lofing J, Bitter GA (2001) Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. Hum Mol Genet 10(18):1889–1900

Article  CAS  PubMed  Google Scholar 

Takahashi M, Shimodaira H, Andreutti-Zaugg C, Iggo R, Kolodner RD, Ishioka C (2007) Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. Cancer Res 67(10):4595–4604

Article  CAS  PubMed  Google Scholar 

Borràs E, Pineda M, Brieger A, Hinrichsen I, Gómez C, Navarro M et al (2012) Comprehensive functional assessment of MLH1 variants of unknown significance. Hum Mutat 33(11):1576–1588

Article  PubMed  Google Scholar 

Cheng J, Novati G, Pan J, Bycroft C, Žemgulytė A, Applebaum T et al (2023) Accurate proteome-wide missense variant effect prediction with AlphaMissense. Science 381(6664):eadg7492

Article  CAS  PubMed  Google Scholar 

Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinforma Oxf Engl 25:1754–1760. https://doi.org/10.1093/bioinformatics/btp324

Article  CAS  Google Scholar 

Reeve JP, Rannala B (2002) DMLE+: Bayesian linkage disequilibrium gene mapping. Bioinforma Oxf Engl 18:894–895. https://doi.org/10.1093/bioinformatics/18.6.894

Article  CAS  Google Scholar 

William B, Provine E, Mayr, Genetics, Speciation Genetics, Volume 167, Issue 3, 1 July 2004, Pages 1041–1046, https://doi.org/10.1093/genetics/167.3.1041

Marques AM, Ananina G, Costa VP et al (2018) Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma. PLoS ONE 13:e0207409. https://doi.org/10.1371/journal.pone.0207409

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nilbert M, Wikman FP, Hansen TVO et al (2009) Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. Fam Cancer 8:75–83. https://doi.org/10.1007/s10689-008-9199-3

Article  PubMed  Google Scholar 

Hardt K, Heick SB, Betz B et al (2011) Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. Fam Cancer 10:273–284. https://doi.org/10.1007/s10689-011-9431-4

Article  CAS  PubMed  Google Scholar 

Kurzawski G, Suchy J, Lener M et al (2006) Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). Clin Genet 69:40–47. https://doi.org/10.1111/j.1399-0004.2006.00550.x

Article  CAS  PubMed  Google Scholar 

Furukawa T, Konishi F, Shitoh K et al (2002) Evaluation of screening strategy for detecting hereditary nonpolyposis colorectal carcinoma. Cancer 94:911–920

Article  PubMed  Google Scholar 

Schofield L, Grieu F, Goldblatt J et al (2012) A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours. Fam Cancer 11:1–6.

Comments (0)

No login
gif