Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families

Human Mutation
Young-Kyoung ShinJae-Gahb Park

Abstract

Hereditary non-polyposis colorectal cancer (HNPCC), the most common hereditary colon cancer syndrome, is a dominant disorder caused by germline defects in mismatch repair (MMR) genes. Identification of MMR gene mutations can have direct clinical implications in counseling and management of HNPCC families. We screened 44 HNPCC and 97 suspected HNPCC Korean families for germline mutations in three MMR genes: MLH1, MSH2 and MSH6. We identified twelve novel mutations: nine in MLH1(c.632_633insT, c.808_811delACTT, c.845C>G, c.1625A>C, c.1730+1delG, c.1907T>C, c.1918C>T, c.2104-2A>G and c.2170T>A), two in MSH2 (c.1886A>G, c.1316_1318delCCT) and one in MSH6 (c.3488A>T). In addition, two statically significant cSNPs in MLH1: c.1128T>C ( p=0.008 in HNPCC and p=0.037 in early-onset CRC) and c.2168C>A ( p<0.001 in HNPCC). Interestingly, the most frequent mutation, c.1757_1758insC in MLH1, was a founder mutation inherited from a common Korean ancestor.

Citations

Dec 17, 2009·Familial Cancer·Wilfredo E De Jesus-MongeMarcia Cruz-Correa
Jun 6, 2009·Journal of Toxicology and Environmental Health. Part a·Ya-shuang ZhaoSui Zhu
Oct 23, 2010·Japanese Journal of Clinical Oncology·Myong Cheol LimSang-Yoon Park
Oct 13, 2011·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·R ZhangC-X Li
Jan 1, 2006·Hereditary Cancer in Clinical Practice·Grzegorz Kurzawski
Dec 15, 2010·Journal of Bioinformatics and Computational Biology·Wenqian WeiPeng Nan
Nov 2, 2007·International Journal of Cancer. Journal International Du Cancer·Sang Nam YoonJae-Gahb Park
May 10, 2006·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Michael J Hall, Olufunmilayo I Olopade
Feb 15, 2018·The Journal of Obstetrics and Gynaecology Research·Hyun J LeeJe H Lee
May 3, 2021·Hereditary Cancer in Clinical Practice·Min Zhang, Tianhui Chen

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