Medullary carcinoma of breast with a novel germline mutation 1123T >G in exon 11 of BRCA1
Document Type
Report
Department
Pathology and Laboratory Medicine
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.
Publication (Name of Journal)
Journal of the College of Physicians and Surgeons Pakistan
Recommended Citation
Moattar, T.,
Kausar, T.,
Aban, M.,
Khan, S.,
Pervez, S.
(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