PURPOSE: Inherited ovarian cancer carries a serious prognosis. Prophylactic oophorectomy has been advocated. The degree to which inherited ovarian cancer is restricted to BRCA mutation carriers is not fully known. We wanted to determine the prevalence of BRCA mutation carriers in women at high risk from ovarian cancer. EXPERIMENTAL DESIGN: Healthy women who were found to be at increased risk judged by family history were followed prospectively. Full BRCA1/2 mutation analysis was conducted on all patients who contracted pelvic cancer. RESULTS: We identified 1,582 women at risk during 5,674 person-years. Forty infiltrating epithelial ovarian cancers, six peritoneal cancers, and one fallopian tube cancer were diagnosed. All but one of these patients (98%) had a BRCA mutation, a frequency that was significantly higher than for the 3 patients with borderline ovarian cancers, who were all mutation negative (P = 0.0002). Eighty-two percent of the detected mutations belonged to one of the 10 Norwegian founder mutations previously reported. At prophylactic bilateral salpingo-oophorectomy, cancer was found in 18 of 345 (5.2%) of mutation carriers compared with none in the 446 mutation negative (P = 0.0000). CONCLUSIONS: In healthy women with a family history of ovarian cancer, high risk for ovarian cancer was restricted to BRCA1/2 mutation carriers. A woman at risk for ovarian cancer according to her family history should have access to full BRCA1/2 mutation testing before deciding on prophylactic bilateral salpingo-oophorectomy.
PURPOSE: Inherited ovarian cancer carries a serious prognosis. Prophylactic oophorectomy has been advocated. The degree to which inherited ovarian cancer is restricted to BRCA mutation carriers is not fully known. We wanted to determine the prevalence of BRCA mutation carriers in women at high risk from ovarian cancer. EXPERIMENTAL DESIGN: Healthy women who were found to be at increased risk judged by family history were followed prospectively. Full BRCA1/2 mutation analysis was conducted on all patients who contracted pelvic cancer. RESULTS: We identified 1,582 women at risk during 5,674 person-years. Forty infiltrating epithelial ovarian cancers, six peritoneal cancers, and one fallopian tube cancer were diagnosed. All but one of these patients (98%) had a BRCA mutation, a frequency that was significantly higher than for the 3 patients with borderline ovarian cancers, who were all mutation negative (P = 0.0002). Eighty-two percent of the detected mutations belonged to one of the 10 Norwegian founder mutations previously reported. At prophylactic bilateral salpingo-oophorectomy, cancer was found in 18 of 345 (5.2%) of mutation carriers compared with none in the 446 mutation negative (P = 0.0000). CONCLUSIONS: In healthy women with a family history of ovarian cancer, high risk for ovarian cancer was restricted to BRCA1/2 mutation carriers. A woman at risk for ovarian cancer according to her family history should have access to full BRCA1/2 mutation testing before deciding on prophylactic bilateral salpingo-oophorectomy.
Authors: Henry T Lynch; Murray Joseph Casey; Carrie L Snyder; Chhanda Bewtra; Jane F Lynch; Matthew Butts; Andrew K Godwin Journal: Mol Oncol Date: 2009-02-21 Impact factor: 6.603
Authors: Karoline B Kuchenbaecker; Susan J Ramus; Jonathan Tyrer; Andrew Lee; Howard C Shen; Jonathan Beesley; Kate Lawrenson; Lesley McGuffog; Sue Healey; Janet M Lee; Tassja J Spindler; Yvonne G Lin; Tanja Pejovic; Yukie Bean; Qiyuan Li; Simon Coetzee; Dennis Hazelett; Alexander Miron; Melissa Southey; Mary Beth Terry; David E Goldgar; Saundra S Buys; Ramunas Janavicius; Cecilia M Dorfling; Elizabeth J van Rensburg; Susan L Neuhausen; Yuan Chun Ding; Thomas V O Hansen; Lars Jønson; Anne-Marie Gerdes; Bent Ejlertsen; Daniel Barrowdale; Joe Dennis; Javier Benitez; Ana Osorio; Maria Jose Garcia; Ian Komenaka; Jeffrey N Weitzel; Pamela Ganschow; Paolo Peterlongo; Loris Bernard; Alessandra Viel; Bernardo Bonanni; Bernard Peissel; Siranoush Manoukian; Paolo Radice; Laura Papi; Laura Ottini; Florentia Fostira; Irene Konstantopoulou; Judy Garber; Debra Frost; Jo Perkins; Radka Platte; Steve Ellis; Andrew K Godwin; Rita Katharina Schmutzler; Alfons Meindl; Christoph Engel; Christian Sutter; Olga M Sinilnikova; Francesca Damiola; Sylvie Mazoyer; Dominique Stoppa-Lyonnet; Kathleen Claes; Kim De Leeneer; Judy Kirk; Gustavo C Rodriguez; Marion Piedmonte; David M O'Malley; Miguel de la Hoya; Trinidad Caldes; Kristiina Aittomäki; Heli Nevanlinna; J Margriet Collée; Matti A Rookus; Jan C Oosterwijk; Laima Tihomirova; Nadine Tung; Ute Hamann; Claudine Isaccs; Marc Tischkowitz; Evgeny N Imyanitov; Maria A Caligo; Ian G Campbell; Frans B L Hogervorst; Edith Olah; Orland Diez; Ignacio Blanco; Joan Brunet; Conxi Lazaro; Miquel Angel Pujana; Anna Jakubowska; Jacek Gronwald; Jan Lubinski; Grzegorz Sukiennicki; Rosa B Barkardottir; Marie Plante; Jacques Simard; Penny Soucy; Marco Montagna; Silvia Tognazzo; Manuel R Teixeira; Vernon S Pankratz; Xianshu Wang; Noralane Lindor; Csilla I Szabo; Noah Kauff; Joseph Vijai; Carol A Aghajanian; Georg Pfeiler; Andreas Berger; Christian F Singer; Muy-Kheng Tea; Catherine M Phelan; Mark H Greene; Phuong L Mai; Gad Rennert; Anna Marie Mulligan; Sandrine Tchatchou; Irene L Andrulis; Gord Glendon; Amanda Ewart Toland; Uffe Birk Jensen; Torben A Kruse; Mads Thomassen; Anders Bojesen; Jamal Zidan; Eitan Friedman; Yael Laitman; Maria Soller; Annelie Liljegren; Brita Arver; Zakaria Einbeigi; Marie Stenmark-Askmalm; Olufunmilayo I Olopade; Robert L Nussbaum; Timothy R Rebbeck; Katherine L Nathanson; Susan M Domchek; Karen H Lu; Beth Y Karlan; Christine Walsh; Jenny Lester; Alexander Hein; Arif B Ekici; Matthias W Beckmann; Peter A Fasching; Diether Lambrechts; Els Van Nieuwenhuysen; Ignace Vergote; Sandrina Lambrechts; Ed Dicks; Jennifer A Doherty; Kristine G Wicklund; Mary Anne Rossing; Anja Rudolph; Jenny Chang-Claude; Shan Wang-Gohrke; Ursula Eilber; Kirsten B Moysich; Kunle Odunsi; Lara Sucheston; Shashi Lele; Lynne R Wilkens; Marc T Goodman; Pamela J Thompson; Yurii B Shvetsov; Ingo B Runnebaum; Matthias Dürst; Peter Hillemanns; Thilo Dörk; Natalia Antonenkova; Natalia Bogdanova; Arto Leminen; Liisa M Pelttari; Ralf Butzow; Francesmary Modugno; Joseph L Kelley; Robert P Edwards; Roberta B Ness; Andreas du Bois; Florian Heitz; Ira Schwaab; Philipp Harter; Keitaro Matsuo; Satoyo Hosono; Sandra Orsulic; Allan Jensen; Susanne Kruger Kjaer; Estrid Hogdall; Hanis Nazihah Hasmad; Mat Adenan Noor Azmi; Soo-Hwang Teo; Yin-Ling Woo; Brooke L Fridley; Ellen L Goode; Julie M Cunningham; Robert A Vierkant; Fiona Bruinsma; Graham G Giles; Dong Liang; Michelle A T Hildebrandt; Xifeng Wu; Douglas A Levine; Maria Bisogna; Andrew Berchuck; Edwin S Iversen; Joellen M Schildkraut; Patrick Concannon; Rachel Palmieri Weber; Daniel W Cramer; Kathryn L Terry; Elizabeth M Poole; Shelley S Tworoger; Elisa V Bandera; Irene Orlow; Sara H Olson; Camilla Krakstad; Helga B Salvesen; Ingvild L Tangen; Line Bjorge; Anne M van Altena; Katja K H Aben; Lambertus A Kiemeney; Leon F A G Massuger; Melissa Kellar; Angela Brooks-Wilson; Linda E Kelemen; Linda S Cook; Nhu D Le; Cezary Cybulski; Hannah Yang; Jolanta Lissowska; Louise A Brinton; Nicolas Wentzensen; Claus Hogdall; Lene Lundvall; Lotte Nedergaard; Helen Baker; Honglin Song; Diana Eccles; Ian McNeish; James Paul; Karen Carty; Nadeem Siddiqui; Rosalind Glasspool; Alice S Whittemore; Joseph H Rothstein; Valerie McGuire; Weiva Sieh; Bu-Tian Ji; Wei Zheng; Xiao-Ou Shu; Yu-Tang Gao; Barry Rosen; Harvey A Risch; John R McLaughlin; Steven A Narod; Alvaro N Monteiro; Ann Chen; Hui-Yi Lin; Jenny Permuth-Wey; Thomas A Sellers; Ya-Yu Tsai; Zhihua Chen; Argyrios Ziogas; Hoda Anton-Culver; Aleksandra Gentry-Maharaj; Usha Menon; Patricia Harrington; Alice W Lee; Anna H Wu; Celeste L Pearce; Gerry Coetzee; Malcolm C Pike; Agnieszka Dansonka-Mieszkowska; Agnieszka Timorek; Iwona K Rzepecka; Jolanta Kupryjanczyk; Matt Freedman; Houtan Noushmehr; Douglas F Easton; Kenneth Offit; Fergus J Couch; Simon Gayther; Paul P Pharoah; Antonis C Antoniou; Georgia Chenevix-Trench Journal: Nat Genet Date: 2015-01-12 Impact factor: 38.330
Authors: Janusz Menkiszak; Anita Chudecka-Głaz; Jacek Gronwald; Aneta Cymbaluk-Płoska; Aleksander Celewicz; Maria Świniarska; Małgorzata Wężowska; Ryszard Bedner; Dorota Zielińska; Paulina Tarnowska; Jerzy Jakubowicz; Zbigniew Kojs Journal: J Ovarian Res Date: 2016-02-29 Impact factor: 4.234