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Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas
Author(s) -
Isidro Glória,
Laranjeira Francisco,
Pires Ana,
Leite Júlio,
Regateiro Fernando,
e Sousa F. Castro,
Soares José,
Castro Clara,
Giria João,
Brito Maria J.,
Medeira Ana,
Teixeira Ricardo,
Morna Henrique,
Gaspar Isabel,
Marinho Carla,
Jorge Rosa,
Brehm António,
Ramos J. Silva,
Boavida Maria Guida
Publication year - 2004
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/humu.9282
Subject(s) - mutyh , biology , germline , germline mutation , genetics , portuguese , cancer research , mutation , gene , linguistics , philosophy
Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC gene, the MYH polyposis is an autosomal recessive disease. The identification of individuals affected by MYH polyposis brings new and important implications for the diagnostic, screening, genetic counseling, follow up and therapeutic options in these patients. In this study, screening for germinal mutations in the MYH gene was performed in 53 Portuguese individuals with multiple colorectal adenomas or classic adenomatous polyposis, in whom no mutation had been identified in the APC gene. The results revealed the presence of biallelic germline MYH mutations in 21 patients. In addition, we here report 3 mutations (c.340T>C [p.Y114H]; c.503G>A [p.R168H]; and c.1186_1187insGG [p.E396fsX437]) which, to our knowledge, have not been previously described. © 2004 Wiley‐Liss, Inc.