title: A deleterious BRCA1 mutation in a young Pakistani woman with metaplastic breast carcinoma.
abstract: Metaplastic breast carcinoma (MBC) is a relatively rare subtype of breast cancer that encompasses a pathologically heterogeneous group of tumors. Pathogenic germ line mutations in the major breast cancer susceptibility genes BRCA1 and BRCA2 genes have been rarely found or described in MBC. We report the identification of the BRCA1 185delAG mutation in a 22-year-old Pakistani woman with triple-negative MBC that showed biphasic morphological features, including sarcomatous and malignant epithelial components. A comprehensive description of the clinical, histopathological, morphological, and immunohistochemical features of the tumor and the patient's treatment course is presented.
authors: Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan.
authors: Muhammad U
authors: MU
authors: Rashid
authors: Mazher A
authors: MA
authors: Shah
authors: Rafay
authors: R
authors: Azhar
authors: Aamir A
authors: AA
authors: Syed
authors: Asim
authors: A
authors: Amin
authors: Ute
authors: U
authors: Hamann
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics* / Q000378:metabolism; D014408:Biomarkers, Tumor / Q000378:metabolism; D001943:Breast Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D018270:Carcinoma, Ductal, Breast / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D003131:Combined Modality Therapy; D018572:Disease-Free Survival; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D015411:Mastectomy, Modified Radical; D008679:Metaplasia; D012509:Sarcoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D016896:Treatment Outcome
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D014408:Biomarkers, Tumor