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