Medullary carcinoma of breast with a novel germline mutation 1123T >G in exon 11 of BRCA1
Pathology and Laboratory Medicine
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.
Journal of the College of Physicians and Surgeons Pakistan
(2006). Medullary carcinoma of breast with a novel germline mutation 1123T >G in exon 11 of BRCA1. Journal of the College of Physicians and Surgeons Pakistan, 16(9), 606-607.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_pathol_microbiol/1078