Premium
Four novel MSH2 / MLH1 gene mutations in Portuguese HNPCC families
Author(s) -
Isidro G.,
Veiga I.,
Matos P.,
Almeida S.,
Bizarro S.,
Marshall B.,
Baptista M.,
Leite J.,
Regateiro F.,
Soares J.,
Castedo S.,
Boavida M.G.
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(200001)15:1<116::aid-humu24>3.0.co;2-q
Subject(s) - msh2 , mlh1 , genetics , biology , germline mutation , hum , lynch syndrome , germline , gene , mutation , dna mismatch repair , dna repair , art , performance art , art history
Hereditary non‐polyposis colorectal cancer (HNPCC) is considered to be determined by germline mutations in the mismatch repair (MMR) genes, especially MSH2 and MLH1. While screening for mutations in these two genes in HNPCC portuguese families, 3 previously unreported MSH2 and 1 MLH1 mutations have been identified in families meeting strict Amsterdam criteria. Hum Mutat 15:116, 2000. © 2000 Wiley‐Liss, Inc.