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GALNT 12 is Not a Major Contributor of Familial Colorectal Cancer Type X
Author(s) -
Seguí Nuria,
Pineda Marta,
Navarro Matilde,
Lázaro Conxi,
Brunet Joan,
Infante Mar,
Durán Mercedes,
Soto José Luis,
Blanco Ignacio,
Capellá Gabriel,
Valle Laura
Publication year - 2014
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.22454
Subject(s) - biology , genetics , missense mutation , colorectal cancer , proband , gene , germline mutation , germline , family aggregation , mutation , cancer , disease , medicine
Previous evidence indicates that mutations in the GALNT 12 gene might cause a fraction of the unexplained familial colorectal cancer ( CRC ) cases: GALNT 12 is located in 9q22‐33, in close proximity to a CRC linkage peak; and germline missense variants that reduce the enzymatic activity of the protein have been identified in CRC patients, some of them with familial CRC history. We hypothesized that mutations in GALNT 12 might explain part of the high‐risk families grouped as familial CRC type X (f CRC ‐ X ), that is, Amsterdam‐positive families with mismatch repair proficient tumors. We sequenced the coding regions of the gene in 103 probands of f CRC ‐ X families, finding no functionally relevant mutations. Our results rule out GALNT 12 as a major high CRC susceptibility gene. Additional studies are required to provide further evidence about its role as a moderate/low susceptibility gene in familial aggregation of cancer.