Mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast in BRCA1 carrier
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Evgeny N. Suspitsin ئ Anna P. Sokolenko ئ Dmitry A. Voskresenskiy ئ Alexandr O. Ivantsov ئ Kseniya V. Shelehova ئ Valery F. Klimashevskiy ئ Dmitry E.
- چاپ و سال / کشور: 2011
Description
This case report describes a 35-year-old woman who was diagnosed with mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast. Genetic analysis of blood DNA revealed a common founder mutation, BRCA1 5382insC. Examination of microdissected tumor samples determined that both epithelial and mesenchymal components contained deletion of the wild-type BRCA1 allele. This report exemplifies that even very uncommon breast tumor types may develop through biallelic inactivation of BRCA1 gene, that has to be considered in the genetic testing settings.
Breast Cancer (2011) 18:137–140 DOI 10.1007/s12282-009-0105-0 Received: 20 February 2008 / Accepted: 8 September 2008 / Published online: 7 April 2009 The Japanese Breast Cancer Society 2009
