Mutations in AXIN2 Cause Familial Tooth Agenesis and Predispose to Colorectal Cancer
نویسندگان
چکیده
منابع مشابه
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.
Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs. Aberrations of regulation of Wnt signaling may lead to cancer. Here, we have used positional cloning to identify the causative mutation in a Finnish family in which severe permanent tooth agenesis (oligodontia) and colorectal neoplasia segregate with dominant inheritance. Eleven members of the family lacked at...
متن کاملColorectal cancer and self-reported tooth agenesis
BACKGROUND Germline mutations in APC and AXIN2 are both associated with colon neoplasia as well as anomalous dental development. We tested the hypothesis that congenitally missing teeth may occur more commonly in individuals diagnosed with colorectal cancer than in individuals without this diagnosis. METHODS Via a survey conducted on 1636 individuals with colorectal cancer (CRC) and 2788 indi...
متن کاملLow frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.
Familial adenomatous polyposis has been linked to germline mutations in the APC tumor suppressor gene. However, a number of patients with familial adenomatous polyposis (with either classical or attenuated phenotype) have no APC mutation. Recently, germline mutations in the Wnt pathway component gene AXIN2 have been associated with tooth agenesis-colorectal cancer syndrome. Moreover, biallelic ...
متن کاملGermline variants in the SEMA4A gene predispose to familial colorectal cancer type X
Familial colorectal cancer type X (FCCTX) is characterized by clinical features of hereditary non-polyposis colorectal cancer with a yet undefined genetic background. Here we identify the SEMA4A p.Val78Met germline mutation in an Austrian kindred with FCCTX, using an integrative genomics strategy. Compared with wild-type protein, SEMA4A(V78M) demonstrates significantly increased MAPK/Erk and PI...
متن کاملMUTYH Mutations Do Not Cause HNPCC or Late Onset Familial Colorectal Cancer
Recently, carriers of biallelic mutations in the base excision repair gene MUTYH, have been demonstrated to have a predisposition for multiple adenomas and colorectal cancer. Still, many questions remain unanswered concerning MUTYH. We have addressed the following: Do biallelic MUTYH mutation carriers invariably demonstrate FAP, and may MUTYH be a gene causing HNPCC, HNPCC-like or dominantly in...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2004
ISSN: 0002-9297
DOI: 10.1086/386293