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Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma
Authors:Ewout P Boesaard  Ingrid P Vogelaar  Peter Bult  Carla AP Wauters  J Han JM van Krieken  Marjolijn JL Ligtenberg  Rachel S van der Post  Nicoline Hoogerbrugge
Affiliation:.Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands ;.Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands ;.Department of Pathology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands
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.
Keywords:MUTYH   Papillary carcinomas of the breast   MUTYH-associated polyposis
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