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. 2020;21(2):431–438. doi: 10.31557/APJCP.2020.21.2.431

Table 4.

Clinical Description of BRCA1 5382insC Mutation Carriers

Carrier 1 Carrier 2 Carrier 3 Carrier 4
Age of first presentation (years) 40 32 48 41
Menopausal state Premenopause Premenopause Premenopause Premenopause
Sister BC Sister BC died MotherBC died Mother BC
Family history Father brain Aunt BC died Aunt bilateral BC Aunt BC
Brother lung Uncle GIT Sister BC
Mammography BIRADS IV BIRADS V BIRADS IV BIRADS V
Pathology IDC IDC IDC IDC
Cancer stage III III II IV
Visceral metastasis Free Free Free Free
Bone metastasis Free Free Free Positive
Hormone receptors and HER2 status ER, PR -ve ER, PR +ve ER, PR +ve ER, PR +ve
HER2 +ve HER2 -ve HER2 -ve HER2 -ve
HER2 enriched Luminal A Luminal A Luminal A
Survival Still alive Still alive Still alive Still alive

BIRADS, Breast Imaging; Reporting and Data System IDC, Infiltrating ductal carcinoma; ILC, Invasive lobular carcinoma; DCIS, Ductal carcinoma in situ; ER, Estrogen receptors; PR, Progesterone receptors; HER2, The human epidermal growth factor receptor 2; BRCA1, Breast cancer gene 1