Germline PALB2, ATM variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy?

A 50-year-old non-Hispanic white Caucasian female was diagnosed with breast cancer and was subsequently found to possess the tumorigenic ataxia telangiectasia mutated (ATM) and PALB2 variants but not the BRCA1 and BRCA2 variants. She visited the gynecologic oncology office for routine counseling about risk-reducing salpingo-oophorectomy (RRSO). Although the patient was asymptomatic, an adnexal mass was discovered in the physical examination performed by palpation. Upon using pre-operative imaging techniques, an 8 cm complex adnexal mass was identified. Her CA-125 level was elevated. She underwent complete cytoreductive surgery. Pathological analysis showed a stage IC clear cell carcinoma of the left ovary; subsequently, she received 6 cycles of adjuvant chemotherapy with a combination of carboplatin and paclitaxel. The patient exhibited no signs ovarian cancer in a follow-up appointment after 32 months of treatment. However, bilateral RRSO is not recommended for patients positive for ATM and PALB2. Breast cancer patients with PALB2 and ATM mutations should extensively discuss the risks and benefits of RRSO in light of current data.

Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients / 전남의대학술지

Breast cancer is the second most common cancer in Korean women. Germline mutations in the BRCA1 and BRCA2 genes cause hereditary breast cancer and are detected in 15–20% of hereditary breast cancer. We investigated the BRCA1 and BRCA2 mutations in 114 familial breast cancer patients using next-generation sequencing. We confirmed 20 different mutations of BRCA1 and BRCA2 in 25 subjects (21.9%). Two such mutations in eight patients were novel (not reported in any variant database or previous study). Six mutations have been reported as disease-causing mutations in public databases. Seven mutations were found only in a single nucleotide polymorphism database and one mutation has been reported in Korea. The BRCA1/2 mutation frequency was similar to that of other studies on familial breast cancer patients in the Korean population. Further studies should examine more cases and mutations of whole exons.