Medullary carcinoma of breast with a novel germline mutation 1123T>G in exon11 of brca1
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2006; 16 (9): 606-607
em Inglês
| IMEMR
| ID: emr-77520
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
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Neoplasias da Mama
/
Éxons
/
Mutação em Linhagem Germinativa
/
Carcinoma Medular
/
Genes BRCA1
Tipo de estudo:
Relato de Casos
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
J. Coll. Physicians Surg. Pak.
Ano de publicação:
2006
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