large deletion of the BRCA1 gene in a hereditary breast cancer: A case report

Approximately 5% to 10% of breast cancers are hereditary, and heterozygous germline BRCA1/2 mutations are responsible for the majority of hereditary breast and ovarian cancers, (especially at age before 50). Medullary carcinoma is a rare subgroup of breast cancers accounting for less than 5% of invasive breast carcinomas. They are most often negative for estrogen and progesterone receptors and HER2 (TNBC). The TNBCs are enriched for germline mutations in BRCA1/2, compared to other subtypes of breast carcinomas. It has been well known that invasive ductal carcinoma with medullary features are associated with germline BRCA1 mutations. About 35% to 60% of BRCA1-associated breast cancers show the medullary features.We report a 33-year-old female patient with triple negative invasive ductal carcinoma, medullary type breast cancer. The patient's mother was affected at age 49 with esophagus cancer and her grandfather had tumor in his liver at age 70. Two grandfather's brothers had stomach and larynx cancers at age 40 and 55 respectively. Although marriage of patient's parents was not consanguineous, her father and his two half-brothers were also affected by unknown primary site (61-year-old), unknown primary site (55-year-old) and stomach (60-year-old) cancers, respectively. MLPA analysis for the patient revealed heterozygote deletion in exons 13 to 15 of BRCA1. Her sister was carrier of this pathogenic mutation but the parents were dead.According to the NCCN guidelines the offer for women with a BRCA mutation who have breast cancer is screening of residual breast tissue with annual breast MRI and mammography should continue. Salpingo-oophorectomy can be offered 35 to 40 years, and upon completion of child bearing.Transvaginal ultrasound for ovarian cancer may be considered, starting at age 30–35 years. Serum CA-125 is also an additional ovarian screening test.

کلیدواژه ها:

medullary carcinoma ، BRCA1 ، exon deletion ، TNBC