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Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma.


ABSTRACT: MUTYH-associated polyposis (MAP) is an autosomal recessive disease, which predisposes to polyposis and colorectal cancer. There is a trend towards an increased risk of breast cancer in MAP patients, with a remarkable proportion of papillary breast cancers. To determine whether MUTYH mutations are associated with this specific and rare type of breast cancer, 53 unselected patients with papillary breast cancer were analyzed for founder mutations in the MUTYH gene. No germline mutations were identified, indicating that biallelic MUTYH mutations are not a frequent underlying cause for the development of papillary carcinomas of the breast.

SUBMITTER: Boesaard EP 

PROVIDER: S-EPMC4416291 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma.

Boesaard Ewout P EP   Vogelaar Ingrid P IP   Bult Peter P   Wauters Carla Ap CA   van Krieken J Han Jm JH   Ligtenberg Marjolijn Jl MJ   van der Post Rachel S RS   Hoogerbrugge Nicoline N  

Hereditary cancer in clinical practice 20141212 1


MUTYH-associated polyposis (MAP) is an autosomal recessive disease, which predisposes to polyposis and colorectal cancer. There is a trend towards an increased risk of breast cancer in MAP patients, with a remarkable proportion of papillary breast cancers. To determine whether MUTYH mutations are associated with this specific and rare type of breast cancer, 53 unselected patients with papillary breast cancer were analyzed for founder mutations in the MUTYH gene. No germline mutations were identi  ...[more]

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