Abstract
A major effort to prevent serous cancer in genetically susceptible women with breast cancer susceptibility gene (BRCA) mutations has recently introduced the practice of risk-reducing prophylactic salpingo-oophorectomy. A small number of those who undergo prophylactic salpingo-oophorectomy will be found to have occult carcinomas. The majority of these appear to originate in the fallopian tube, reinforcing the theory that a significant proportion of high-grade serous carcinoma pelvic tumours have a fimbrial origin. In addition to this, histopathological and molecular biological characteristics suggest that among other serous carcinomas, fallopian tube serous carcinoma and primary peritoneal serous carcinoma really represent one entity. We present a case with breast cancer susceptibility gene 2 (BRCA2) mutation that was found to have serous tubal intraepithelial carcinoma (STIC) following prophylactic salpingo-oophorectomy. Subsequently, she was diagnosed with advanced primary peritoneal carcinoma. This prompted our team to reflect upon the case, review the current literature and recommend a rigorous preoperative assessment and meticulous intraoperative examination for prevention and early detection of high grade serous pelvic carcinomas.
Highlights
Breast cancer susceptibility gene (BRCA) mutation was discovered in the 90s
We present a case with breast cancer susceptibility gene 2 (BRCA2) mutation that was found to have serous tubal intraepithelial carcinoma (STIC) following prophylactic salpingo-oophorectomy
We present a case of a BRCA gene mutation carrier who following reducing bilateral salpingo-oophorectomy (RRSO) was found to have focal serous tubal intraepithelial carcinoma (STIC) and subsequently advanced primary peritoneal malignancy
Summary
Breast cancer susceptibility gene (BRCA) mutation was discovered in the 90s. It all started when Mary-Claire King’s genetic studies indicated a locus on chromosome 17p for a putative susceptibility gene. Regarding prophylaxis for breast cancer, women carriers of the gene mutation are either offered annual screening with mammograms until 70 and after that, every three years, or they can undergo prophylactic bilateral mastectomy with reconstructive surgery. Our patient was a 75-year-old white woman who was a carrier of the BRCA2 gene mutation She presented to her primary care doctor with a family history of three of her daughters having been diagnosed with breast cancer. Regarding the increased risk for breast cancer, the patient was informed about the options of having screening every three years along with prophylactic treatment with tamoxifen or anastrozole or undergoing a prophylactic bilateral mastectomy with reconstruction. After thorough discussion and counselling in the clinic, the patient was informed that the best option to minimize the risk of ovarian cancer would be to have the ovaries and fallopian tubes removed laparoscopically. The plan was to commence olaparib maintenance following completion of the six chemotherapy cycles
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