Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma.
SourceHereditary Cancer in Clinical Practice, 12, 1, (2014), pp. 21
Article / Letter to editor
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Paediatrics - OUD tm 2017
Hereditary Cancer in Clinical Practice
SubjectRadboudumc 17: Women's cancers RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 2: Cancer development and immune defence RIMLS: Radboud Institute for Molecular Life Sciences
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.
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