Boesaard Ewout P, Vogelaar Ingrid P, Bult Peter, Wauters Carla Ap, van Krieken J Han Jm, Ligtenberg Marjolijn Jl, van der Post Rachel S, Hoogerbrugge Nicoline
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.
Hered Cancer Clin Pract. 2014 Dec 12;12(1):21. doi: 10.1186/1897-4287-12-21. eCollection 2014.
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.
MUTYH相关息肉病（MAP）是一种常染色体隐性疾病，易引发息肉病和结直肠癌。MAP患者患乳腺癌的风险有增加趋势，其中相当一部分为乳头状乳腺癌。为确定MUTYH突变是否与这种特殊且罕见的乳腺癌类型相关，对53例未经选择的乳头状乳腺癌患者进行了MUTYH基因始祖突变分析。未发现种系突变，这表明双等位基因MUTYH突变并非乳头状乳腺癌发生的常见潜在病因。
