Review ArticleGenetic epidemiology of ovarian cancer and prospects for polygenic risk prediction
Section snippets
Epithelial ovarian cancer: the clinical and public health challenge
Epithelial ovarian cancer (EOC) causes around 125,000 deaths globally per year. Over the last 40 years, long term survival rates have changed very little. About 70% of women with ovarian cancer are diagnosed with advanced stage disease (stages III/IV), of whom only ~ 30% will survive more than 5 years. By contrast, women diagnosed with earlier stage (stage 1) disease have a 5-year survival rate > 90%. Our understanding of the biology of EOC is limited, and complicated by disease heterogeneity.
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2022, European Journal of CancerCitation Excerpt :We defined BRCAness mutation group, patients with at least one mutation in these genes as follows: ATM, BAP1, BARD1, BLM, BRCA1, BRCA2, BRIP1, CHEK2, FAM175A, FANCA, FANCC, NBN, PALB2, RAD50, RAD51, RAD51C, RTEL1, ARID1A, ATR, ATRX, CHEK1, RAD51L1, and RAD51L3. These genes have been selected according to the recent evidences from other oncologic settings, including pancreatic and ovarian cancers [28–30]. The study protocol was reviewed and approved by San Raffaele Ethics committee and was conformed to the ethical guidelines of the 1975 Declaration of Helsinki.
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2022, eBioMedicineCitation Excerpt :The National Comprehensive Cancer Network genetics guidelines, as well as several European organizations, have recommended universal germline BRCA mutation screening for all women diagnosed with OC, that can help identify family members at high risk. In addition to BRCA1/2, other genes from the Fanconi anemia pathway, such as BRIP1, RAD51C, and RAD51D, have been implicated in hereditary OC.28 For women at high risk of developing OC, risk-reducing surgery, such as bilateral salpingo-oophorectomy (removal of the ovaries and the fallopian tubes) may be an option.5
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2022, Cardio-Oncology Practice Manual: A Companion to Braunwald's Heart DiseaseDown regulation of fatty acid synthase via inhibition of PI3K/AKT/mTOR in ovarian cancer cell line by novel organoselenium pseudopeptide
2022, Current Research in Pharmacology and Drug DiscoveryCitation Excerpt :The family history is the most significant risk factor a where about 90% of hereditary ovarian cancer cases are due to mutation in the BRCA1 and BRCA2 tumor suppressor genes (Holschneider and Berek, 2000; Jones et al., 2017). About 16.4% of women with BRCA1 and 7% of women with BRCA2 are suffering from ovarian cancer (Jones et al., 2017). Other risk factors include hormone replacement therapy (HRT) and age (Reid et al., 2017).