Genetics of ovarian cancer 49F Underwent riskreduction surgery Total hysterectomy and bilateral salpingo oophorectomy Significant family history Sister passed away in her 40s due to breast cancer ID: 1010662
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1. Ovarian cancerTalking point:Genetics of ovarian cancer
2. 49FUnderwent risk-reduction surgeryTotal hysterectomy and bilateral salpingo-oophorectomySignificant family history Sister passed away in her 40s due to breast cancerSister was tested negative for BRCA mutationPaternal grandmother had ovarian cancerMother had cervical cancerOf Jewish descent, but not Ashkenazi
3. 49FHistopathology Right ovary – 5mm borderline endometroid tumourLeft ovary – 9mm high grade serous carcinoma (solid pseudoendometrioid transitional cell carcinoma like appearance)No lymphovascular or perineural invasion seenImagingCT-CAP – no metastatic disease detectedF-18 FDG PET CT scan – no FDG avid metastatic diseaseStagingIB – tumour limited to both ovaries; no tumour on ovarian surface
4. 49FTumour markersNegative for CEA, CA 125/153/199, AFP, hCGReceptor statusER+/PR+ BRCA1 and BRCA2 mutation associated with pattern of tumour growth
5. 49FPast medical historyOtherwise healthyNon-smokerNo medication Social historyLives at home with husband and two daughters, supportiveCurrently IADL with expectation of full recovery post-treatment
6. 49FManagementCounselingPrognosis of the cancerTreatment option and expected outcomesExpected side effectsPatient concerns – alopeciaAdjuvant chemotherapyCarboplatin and paclitaxel OtherPsychologistDieticianExercise physiologist
7. GeneticsAnd ovarian cancer
8. IntroductionAlthough family history of breast and/or ovarian cancer is common in women diagnosed with breast or ovarian cancer, less than 10% of breast cancers and 15% of ovarian cancers are associated with inherited genetic mutation1Majority of inherited breast or ovarian cancer are associated with BRCA1 and BRCA 2
9. Associated Genes
10. BRCA-associated cancerBRCA1 and BRCA2 mutations are inherited as autosomal dominant, highly penetrant, germline mutationsUp to 80% of BRCA mutation-associated breast cancers are triple-negative2The cumulative risk of breast and ovarian cancer by age 70 years forBRCA1 mutation carriers are 57% and 40% respectivelyBRCA2 mutation carriers are 49% and 18% respectivelyMeta-analysis of 10 studies conducted in high-risk clinics and population-based settings3
11. Risk of Cancer