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

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

doi:10.1186/1897-4287-12-21

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

Hered Cancer Clin Pract. 2014 Dec 12;12(1):21. doi: 10.1186/1897-4287-12-21. eCollection 2014.

Authors

Ewout P Boesaard¹, Ingrid P Vogelaar¹, Peter Bult², Carla Ap Wauters³, J Han Jm van Krieken², Marjolijn Jl Ligtenberg⁴, Rachel S van der Post², Nicoline Hoogerbrugge¹

Affiliations

¹ Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
² Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands.
³ Department of Pathology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.
⁴ 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.

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; MUTYH-associated polyposis; Papillary carcinomas of the breast.