When prevention is definitely better than cure risk-reducing surgeries for women carrying a gene mutation for a hereditary cancer snydrome.
- Author:
Carissa Amparo A BERNARDO
;
Rafael S TOMACRUZ
- Publication Type:Case report
- Keywords:
Hereditary Cancer SyndromeRisk-reducing Surgeries
- MeSH:
Human;
Female;
Adult;
.x
- From:
Philippine Journal of Obstetrics and Gynecology
2010;34(1):46-56
- CountryPhilippines
- Language:English
-
Abstract:
A 38-year old G3P1 (1011) was diagnosed with Invasive Ductal Carcinoma of the right breast on her 23rd week of gestation. The malignancy was estrogen and progesterone receptor assay and HER2/neu negative. She subsequently had 5 cycles of Cyclophosphamide-Doxorubicin chemotherapy beginning at 25 weeks gestation, repeat cesarean section with bilateral salpingo-oophorectomy at 36 weeks gestation 4 more courses of chemotherapy with Docetaxel starting 1 month postpartum, modified radical mastectomy, and radiotherapy. With a strong family history of breast and ovarian cancers, she underwent genetic testing for the BRCA gene mutation. She was positive for deleterious mutations of BRCA1 and BRCA2. She subsequently underwent "risk-reducing" simple mastectomy of the contralateral breast 2 years postpartum. Three sisters between the ages of 40 and 50 were likewise discovered to have a variety of BRCA gene mutations, one of whom also developed breast cancer. All sisters subsequently had risk-reducing mastectomies and salpingo-oophorectomies. The American Society of Clinical Oncology (ASCO) recommends genetic testing for cancer predisposition when the individual has a personal or family history suggestive of a cancer susceptibility syndrome. The benefits of genetic testing include a more precise estimation of cancer risks for the individual and her family members, and the identification of those individuals who could participate in risk-reducing surgeries in an effort to virtually eliminate the probability of developing a particular inherited malignancy. Risk-reducing bilateral simple mastectomy can be performed for high-risk women who have beendocumented to carry the BRCA gene mutation. On the other hand, risk-reducing contralateral simple mastectomy isrecommended for women with breast cancer who previously underwent modified radical mastectomy (MRM). Consequently, risk-reducing bilateral salpingooophorectomy is strongly recommended in women with BRCA gene mutations because of the high mortality rate associated with ovarian cancer and the lack of effective screening and preventive approaches for this malignancy.
