Indian Journal of Medical and Paediatric Oncology, Inhaltsverzeichnis CC BY-NC-ND 4.0 · Indian J Med Paediatr Oncol 2022; 43(02): 193-194DOI: 10.1055/s-0041-1740317 Report on International Publication Universal Germline Genetic Testing in Epithelial Ovarian Cancer: Promises and challenges Authors Institutsangaben Rima Sanjay Pathak 1 Department of Radiation Oncology, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, Maharashtra, India Rajiv Sarin 1 Department of Radiation Oncology, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, Maharashtra, India Artikel empfehlen Abstract Volltext Referenzen References 1 Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin 2018; 68 (06) 394-424 2 Li W, Shao D, Li L. et al. Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study. J Ovarian Res 2019; 12 article no. 80 3 Kast K, Rhiem K, Wappenschmidt B. et al; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J Med Genet 2016; 53 (07) 465-471 4 Singh J, Thota N, Singh S. et al. Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations. Breast Cancer Res Treat 2018; 170 (01) 189-196 5 Daly MB, Pilarski R, Yurgelun MB. et al. NCCN guidelines insights: genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 1.2020. J Natl Compr Canc Netw 2020; 18 (04) 380-391 6 Konstantinopoulos PA, Norquist B, Lacchetti C. et al. Germline and somatic tumor testing in epithelial ovarian cancer: ASCO guideline. J Clin Oncol 2020; 38 (11) 1222-1245 7 Walsh T, Casadei S, Lee MK. et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A 2011; 108 (44) 18032-18037 8 Dos Santos Vidal R, Hawrysh A, Walia JS, Davey S, Feilotter H. Eligibility criteria and genetic testing results from a high-risk cohort for hereditary breast and ovarian cancer syndrome in southeastern Ontario. J Mol Diagn 2016; 18 (03) 362-369 9 Sugino K, Tamura R, Nakaoka H. et al. Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients. Sci Rep 2019; 9: 17808 10 Myers MF, Chang MH, Jorgensen C. et al. Genetic testing for susceptibility to breast and ovarian cancer: evaluating the impact of a direct-to-consumer marketing campaign on physicians' knowledge and practices. Genet Med 2006; 8 (06) 361-370 11 Gupta S, Rajappa S, Advani S. et al. Prevalence of BRCA1 and BRCA2 mutations among patients with ovarian, primary peritoneal, and Fallopian tube cancer in India: a multicenter cross-sectional study. JCO Glob Oncol 2021; 7 (07) 849-861 12 Lambert M. ACOG guidelines for managing hereditary breast and ovarian cancer syndrome. Am Fam Physician 2009; 80 (12) 1505-1507 13 Paluch-Shimon S, Cardoso F, Sessa C. et al; ESMO Guidelines Committee. Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO clinical practice guidelines for cancer prevention and screening. Ann Oncol 2016; 27 (Suppl. 05) v103-v110 14 Menon U, Gentry-Maharaj A, Burnell M. et al. Ovarian cancer population screening and mortality after long-term follow-up in the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS): a randomised controlled trial. Lancet 2021; 397 (10290): 2182-2193\ 15 Kemp Z, Turnbull A, Yost S. et al. Evaluation of cancer-based criteria for use in mainstream BRCA1 and BRCA2 genetic testing in patients with breast cancer. JAMA Netw Open 2019; 2 (05) e194428
