Background/Aims: Nearly 15% of all ovarian cancer patients carry a germline BRCA mutation. A pilot project was started at IRCCS AOU San Martino - IST, Genoa, to assess the feasibility and consequences of offering genetic counselling to all ovarian cancer patients during routine oncology appointments. We present early results of this project. Methods: Patients who attended an oncology visit at the Medical Oncology Unit 1 between November 2012 and December 2013 were identified. Medical records were reviewed for clinical data, genetic counselling and testing outcomes. Results: Out of 104 women diagnosed with ovarian cancer undergoing an oncology visit, 94 had not had genetic counselling in the past. Twenty-nine patients (29/94, 31%) were referred to the Unit of Hereditary Cancer; of these, 14/26 (54%) were referred at the first visit and 15/68 (22%) at the follow-up visit (p = 0.003). Most referred women attended genetic counselling (22/29, 76%) and had BRCA genetic testing (21/22, 95%). Four BRCA1 mutations were detected (4/21, 19%). Conclusions: Oncologists discuss genetic counselling with a minority of ovarian cancer patients. Mainstreaming such practice is important to optimize the management of these patients and their families. Efforts are needed to identify new models for introducing ovarian cancer genetic risk assessment in oncology practice.

Ferlay J, Shin HR, Bray F, Forman D, Mathers C, Parkin DM: Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int J Cancer 2010;127:2893-2917.
Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, Roeb W, Agnew KJ, Stray SM, Wickramanayake A, Norquist B, Pennington KP, Garcia RL, King MC, Swisher EM: Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci USA 2011;108:18032-18037.
Zhang S, Royer R, Li S, McLaughlin JR, Rosen B, Risch HA, Fan I, Bradley L, Shaw PA, Narod SA: Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Gynecol Oncol 2011;121:353-357.
Alsop K, Fereday S, Meldrum C, deFazio A, Emmanuel C, George J, Dobrovic A, Birrer MJ, Webb PM, Stewart C, Friedlander M, Fox S, Bowtell D, Mitchell G: BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. J Clin Oncol 2012;30:2654-2663.
Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Fan I, Tang J, Li S, Zhang S, Shaw PA, Narod SA: Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst 2006;98:1694-1706.
National Comprehensive Cancer Network: NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: breast and ovarian. Version 1.2014. (accessed September 17, 2014).
Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med 2015;17:70-87.
Lancaster JM, Powell CB, Chen LM, Richardson DL; SGO Clinical Practice Committee: Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol 2015;136:3-7.
Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, Garber JE, Neuhausen SL, Matloff E, Eeles R, Pichert G, Van t'veer L, Tung N, Weitzel JN, Couch FJ, Rubinstein WS, Ganz PA, Daly MB, Olopade OI, Tomlinson G, Schildkraut J, Blum JL, Rebbeck TR: Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010;304:967-975.
Finch AP, Lubinski J, Møller P, Singer CF, Karlan B, Senter L, Rosen B, Maehle L, Ghadirian P, Cybulski C, Huzarski T, Eisen A, Foulkes WD, Kim-Sing C, Ainsworth P, Tung N, Lynch HT, Neuhausen S, Metcalfe KA, Thompson I, Murphy J, Sun P, Narod SA: Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol 2014;32:1547-1553.
Domchek SM, Jhaveri K, Patil S, Stopfer JE, Hudis C, Powers J, Stadler Z, Goldstein L, Kauff N, Khasraw M, Offit K, Nathanson KL, Robson M: Risk of metachronous breast cancer after BRCA mutation-associated ovarian cancer. Cancer 2013;119:1344-1348.
Vencken PM, Reitsma W, Kriege M, Mourits MJ, de Bock GH, de Hullu JA, van Altena AM, Gaarenstroom KN, Vasen HF, Adank MA, Schmidt MK, van Beurden M, Zweemer RP, Rijcken F, Slangen BF, Burger CW, Seynaeve C: Outcome of BRCA1- compared with BRCA2-associated ovarian cancer: a nationwide study in the Netherlands. Ann Oncol 2013;24:2036-2042.
Sonnenblick A, de Azambuja E, Azim HA Jr, Piccart M: An update on PARP inhibitors - moving to the adjuvant setting. Nat Rev Clin Oncol 2015;12:27-41.
Metcalfe KA, Fan I, McLaughlin J, Risch HA, Rosen B, Murphy J, Bradley L, Armel S, Sun P, Narod SA: Uptake of clinical genetic testing for ovarian cancer in Ontario: a population-based study. Gynecol Oncol 2009;112:68-72.
Meyer LA, Anderson ME, Lacour RA, Suri A, Daniels MS, Urbauer DL, Nogueras-Gonzalez GM, Schmeler KM, Gershenson DM, Lu KH: Evaluating women with ovarian cancer for BRCA and BRCA2 mutations: missed opportunities. Obstet Gynecol 2010;115:945-952.
Petzel SV, Vogel RI, Bensend T, Leininger A, Argenta PA, Geller MA: Genetic risk assessment for women with epithelial ovarian cancer: referral patterns and outcomes in a university gynecologic oncology clinic. J Genet Couns 2013;22:662-673.
Powell CB, Littell R, Hoodfar E, Sinclair F, Pressman A: Does the diagnosis of breast or ovarian cancer trigger referral to genetic counseling? Int J Gynecol Cancer 2013;23:431-436.
Demsky R, McCuaig J, Maganti M, Murphy KJ, Rosen B, Armel SR: Keeping it simple: genetics referrals for all invasive serous ovarian cancers. Gynecol Oncol 2013;130:329-333.
Petzel SV, Vogel RI, McNiel J, Leininger A, Argenta PA, Geller MA: Improving referral for genetic risk assessment in ovarian cancer using an electronic medical record system. Int J Gynecol Cancer 2014;24:1003-1009.
Varesco L, Viassolo V, Viel A, Gismondi V, Radice P, Montagna M, Alducci E, Della Puppa L, Oliani C, Tommasi S, Caligo MA, Vivanet C, Zuradelli M, Mandich P, Tibiletti MG, Cavalli P, Lucci Cordisco E, Turchetti D, Boggiani D, Bracci R, Bruzzi P, Bonelli L: Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: a retrospective study in a sample of Italian cancer genetics clinics. Breast 2013;22:1130-1135.
Lu KH, Wood ME, Daniels M, Burke C, Ford J, Kauff ND, Kohlmann W, Lindor NM, Mulvey TM, Robinson L, Rubinstein WS, Stoffel EM, Snyder C, Syngal S, Merrill JK, Wollins DS, Hughes KS; American Society of Clinical Oncology: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. J Clin Oncol 2014;32:833-840.
Brandt R, Ali Z, Sabel A, McHugh T, Gilman P: Cancer genetics evaluation: barriers to and improvements for referral. Genet Test 2008;12:9-12.
Wideroff L, Vadaparampil ST, Greene MH, Taplin S, Olson L, Freedman AN: Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians. J Med Genet 2005;42:749-755.
Marzuillo C, De Vito C, Boccia S, D'Addario M, D'Andrea E, Santini P, Boccia A, Villari P: Knowledge, attitudes and behavior of physicians regarding predictive genetic tests for breast and colorectal cancer. Prev Med 2013;57:477-482.
Novetsky AP, Smith K, Babb SA, Jeffe DB, Hagemann AR, Thaker PH, Powell MA, Mutch DG, Massad LS, Zighelboim I: Timing of referral for genetic counseling and genetic testing in patients with ovarian, fallopian tube, or primary peritoneal carcinoma. Int J Gynecol Cancer 2013;23:1016-1021.
Trepanier AM, Allain DC: Models of service delivery for cancer genetic risk assessment and counseling. J Genet Couns 2014;23:239-253.
Mainstreaming Cancer Genetics Programme.
Piano nazionale della prevenzione per gli anni 2014-2018.
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