title: Medullary carcinoma of breast with a novel germline mutation 1123T >G in exon 11 of BRCA1.
abstract: Breast cancer, the most common malignancy in females, has an estimated 5-10% hereditary predisposition. BRCA1 is a tumor suppressor gene and is known to be responsible for breast cancer and breast-ovarian cancers running in families. In breast caner patients, several mutations in BRCA1 have been reported throughout the gene. This report describes identification of a mutation in BRCA1 gene using protein truncation (PTT) assay in a patient with medullary carcinoma of breast who also had a family history of breast cancer. Following DNA sequencing, the mutation was confirmed as substitution of thymine at position 1123 with guanine of exon 11 (1123 T>G). This mutation can be added to the pool of known BRCA1 mutations in Pakistani population, which will help in developing a local screening panel of BRCA1 mutations.
authors.affiliation: Department of Pathology and Microbiology, The Aga Khan University Hospital, Karachi. tariq.moatter@aku.edu
authors.forename: Tariq
authors.initials: T
authors.lastname: Moattar
authors.forename: Toheed
authors.initials: T
authors.lastname: Kausar
authors.forename: Muniba
authors.initials: M
authors.lastname: Aban
authors.forename: Shaista
authors.initials: S
authors.lastname: Khan
authors.forename: Shahid
authors.initials: S
authors.lastname: Pervez
mesh_terms: D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D018276:Carcinoma, Medullary / Q000235:genetics* / Q000473:pathology; D004273:DNA, Neoplasm / Q000235:genetics*; D005091:Exons; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D016133:Polymerase Chain Reaction; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; C111164:BRAP protein, human; D044767:Ubiquitin-Protein Ligases