Medullary carcinoma of breast with a novel germline mutation 1123T >G in exon 11 of BRCA1

• Published in: Journal of the College of Physicians and Surgeons--Pakistan Vol. 16; no. 9; pp. 606 - 607
• Main Authors: Moattar, Tariq, Kausar, Toheed, Aban, Muniba, Khan, Shaista, Pervez, Shahid
• Format: Journal Article
• Language: English
• Published: Pakistan 01.09.2006
• Subjects: Adult; Biomarkers, Tumor - genetics; Breast Neoplasms - genetics; Breast Neoplasms - pathology; Carcinoma, Medullary - genetics; Carcinoma, Medullary - pathology; DNA, Neoplasm - genetics; Exons; Female; Germ-Line Mutation; Humans; Polymerase Chain Reaction; Ubiquitin-Protein Ligases - genetics
• ISSN: 1022-386X

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.