OBJECTIVE: The contribution of BRCA1 and BRCA2 mutations to ovarian cancer in Colombia has not yet been explored. Five founder mutations have been identified in two previous studies of breast cancer patients in the Bogota region [1,2]. It is important that the frequency of mutations be established among unselected cases of ovarian cancer in order to estimate the genetic burden of this cancer in Colombia and to plan genetic and preventive services. METHODS: We enrolled 100 unselected women with ovarian cancer from the Bogota region, and from northern and southern central regions of Colombia. A detailed family history was obtained from each patient and a blood sample was processed for DNA analysis. DNA quality was adequate for BRCA testing for 96 women. Mutations in BRCA1 and BRCA2 were sought using a Hispanic BRCA mutation testing panel. All mutations were confirmed by direct sequencing. RESULTS: Fifteen mutations were identified (two in BRCA2 and thirteen in BRCA1) representing 15.6% of the total (95% CI: 7.8% to 21.3%). Among the 15 mutation-positive families there were nine breast-ovarian cancer families, one gastric cancer family, one prostate cancer family, three uterine cancer families, and one family with no history of cancer. A single founder mutation in BRCA1 (3450del4) was seen in 11 patients. CONCLUSION: In summary, BRCA1 founder mutations are common in Colombian women with ovarian cancer. Approximately 11.5% of all ovarian cancer cases in the Bogota region are attributable to a single BRCA1 founder mutation.
OBJECTIVE: The contribution of BRCA1 and BRCA2 mutations to ovarian cancer in Colombia has not yet been explored. Five founder mutations have been identified in two previous studies of breast cancerpatients in the Bogota region [1,2]. It is important that the frequency of mutations be established among unselected cases of ovarian cancer in order to estimate the genetic burden of this cancer in Colombia and to plan genetic and preventive services. METHODS: We enrolled 100 unselected women with ovarian cancer from the Bogota region, and from northern and southern central regions of Colombia. A detailed family history was obtained from each patient and a blood sample was processed for DNA analysis. DNA quality was adequate for BRCA testing for 96 women. Mutations in BRCA1 and BRCA2 were sought using a Hispanic BRCA mutation testing panel. All mutations were confirmed by direct sequencing. RESULTS: Fifteen mutations were identified (two in BRCA2 and thirteen in BRCA1) representing 15.6% of the total (95% CI: 7.8% to 21.3%). Among the 15 mutation-positive families there were nine breast-ovarian cancer families, one gastric cancer family, one prostate cancer family, three uterine cancer families, and one family with no history of cancer. A single founder mutation in BRCA1 (3450del4) was seen in 11 patients. CONCLUSION: In summary, BRCA1 founder mutations are common in Colombian women with ovarian cancer. Approximately 11.5% of all ovarian cancer cases in the Bogota region are attributable to a single BRCA1 founder mutation.
Authors: Filipa Lynce; Kristi D Graves; Lina Jandorf; Charite Ricker; Eida Castro; Laura Moreno; Bianca Augusto; Laura Fejerman; Susan T Vadaparampil Journal: Cancer Control Date: 2016-10 Impact factor: 3.302
Authors: Akiva P Novetsky; Kylie Smith; Sheri A Babb; Donna B Jeffe; Andrea R Hagemann; Premal H Thaker; Matthew A Powell; David G Mutch; L Stewart Massad; Israel Zighelboim Journal: Int J Gynecol Cancer Date: 2013-07 Impact factor: 3.437
Authors: Ignacio Briceño-Balcázar; Alberto Gómez-Gutiérrez; Natalia Andrea Díaz-Dussán; María Claudia Noguera-Santamaría; Diego Díaz-Rincón; María Consuelo Casas-Gómez Journal: Colomb Med (Cali) Date: 2017-06-30
Authors: Timothy R Rebbeck; Tara M Friebel; Eitan Friedman; Ute Hamann; Dezheng Huo; Ava Kwong; Edith Olah; Olufunmilayo I Olopade; Angela R Solano; Soo-Hwang Teo; Mads Thomassen; Jeffrey N Weitzel; T L Chan; Fergus J Couch; David E Goldgar; Torben A Kruse; Edenir Inêz Palmero; Sue Kyung Park; Diana Torres; Elizabeth J van Rensburg; Lesley McGuffog; Michael T Parsons; Goska Leslie; Cora M Aalfs; Julio Abugattas; Julian Adlard; Simona Agata; Kristiina Aittomäki; Lesley Andrews; Irene L Andrulis; Adalgeir Arason; Norbert Arnold; Banu K Arun; Ella Asseryanis; Leo Auerbach; Jacopo Azzollini; Judith Balmaña; Monica Barile; Rosa B Barkardottir; Daniel Barrowdale; Javier Benitez; Andreas Berger; Raanan Berger; Amie M Blanco; Kathleen R Blazer; Marinus J Blok; Valérie Bonadona; Bernardo Bonanni; Angela R Bradbury; Carole Brewer; Bruno Buecher; Saundra S Buys; Trinidad Caldes; Almuth Caliebe; Maria A Caligo; Ian Campbell; Sandrine M Caputo; Jocelyne Chiquette; Wendy K Chung; Kathleen B M Claes; J Margriet Collée; Jackie Cook; Rosemarie Davidson; Miguel de la Hoya; Kim De Leeneer; Antoine de Pauw; Capucine Delnatte; Orland Diez; Yuan Chun Ding; Nina Ditsch; Susan M Domchek; Cecilia M Dorfling; Carolina Velazquez; Bernd Dworniczak; Jacqueline Eason; Douglas F Easton; Ros Eeles; Hans Ehrencrona; Bent Ejlertsen; Christoph Engel; Stefanie Engert; D Gareth Evans; Laurence Faivre; Lidia Feliubadaló; Sandra Fert Ferrer; Lenka Foretova; Jeffrey Fowler; Debra Frost; Henrique C R Galvão; Patricia A Ganz; Judy Garber; Marion Gauthier-Villars; Andrea Gehrig; Anne-Marie Gerdes; Paul Gesta; Giuseppe Giannini; Sophie Giraud; Gord Glendon; Andrew K Godwin; Mark H Greene; Jacek Gronwald; Angelica Gutierrez-Barrera; Eric Hahnen; Jan Hauke; Alex Henderson; Julia Hentschel; Frans B L Hogervorst; Ellen Honisch; Evgeny N Imyanitov; Claudine Isaacs; Louise Izatt; Angel Izquierdo; Anna Jakubowska; Paul James; Ramunas Janavicius; Uffe Birk Jensen; Esther M John; Joseph Vijai; Katarzyna Kaczmarek; Beth Y Karlan; Karin Kast; KConFab Investigators; Sung-Won Kim; Irene Konstantopoulou; Jacob Korach; Yael Laitman; Adriana Lasa; Christine Lasset; Conxi Lázaro; Annette Lee; Min Hyuk Lee; Jenny Lester; Fabienne Lesueur; Annelie Liljegren; Noralane M Lindor; Michel Longy; Jennifer T Loud; Karen H Lu; Jan Lubinski; Eva Machackova; Siranoush Manoukian; Véronique Mari; Cristina Martínez-Bouzas; Zoltan Matrai; Noura Mebirouk; Hanne E J Meijers-Heijboer; Alfons Meindl; Arjen R Mensenkamp; Ugnius Mickys; Austin Miller; Marco Montagna; Kirsten B Moysich; Anna Marie Mulligan; Jacob Musinsky; Susan L Neuhausen; Heli Nevanlinna; Joanne Ngeow; Huu Phuc Nguyen; Dieter Niederacher; Henriette Roed Nielsen; Finn Cilius Nielsen; Robert L Nussbaum; Kenneth Offit; Anna Öfverholm; Kai-Ren Ong; Ana Osorio; Laura Papi; Janos Papp; Barbara Pasini; Inge Sokilde Pedersen; Ana Peixoto; Nina Peruga; Paolo Peterlongo; Esther Pohl; Nisha Pradhan; Karolina Prajzendanc; Fabienne Prieur; Pascal Pujol; Paolo Radice; Susan J Ramus; Johanna Rantala; Muhammad Usman Rashid; Kerstin Rhiem; Mark Robson; Gustavo C Rodriguez; Mark T Rogers; Vilius Rudaitis; Ane Y Schmidt; Rita Katharina Schmutzler; Leigha Senter; Payal D Shah; Priyanka Sharma; Lucy E Side; Jacques Simard; Christian F Singer; Anne-Bine Skytte; Thomas P Slavin; Katie Snape; Hagay Sobol; Melissa Southey; Linda Steele; Doris Steinemann; Grzegorz Sukiennicki; Christian Sutter; Csilla I Szabo; Yen Y Tan; Manuel R Teixeira; Mary Beth Terry; Alex Teulé; Abigail Thomas; Darcy L Thull; Marc Tischkowitz; Silvia Tognazzo; Amanda Ewart Toland; Sabine Topka; Alison H Trainer; Nadine Tung; Christi J van Asperen; Annemieke H van der Hout; Lizet E van der Kolk; Rob B van der Luijt; Mattias Van Heetvelde; Liliana Varesco; Raymonda Varon-Mateeva; Ana Vega; Cynthia Villarreal-Garza; Anna von Wachenfeldt; Lisa Walker; Shan Wang-Gohrke; Barbara Wappenschmidt; Bernhard H F Weber; Drakoulis Yannoukakos; Sook-Yee Yoon; Cristina Zanzottera; Jamal Zidan; Kristin K Zorn; Christina G Hutten Selkirk; Peter J Hulick; Georgia Chenevix-Trench; Amanda B Spurdle; Antonis C Antoniou; Katherine L Nathanson Journal: Hum Mutat Date: 2018-03-12 Impact factor: 4.700
Authors: Julie Dutil; Volha A Golubeva; Alba L Pacheco-Torres; Hector J Diaz-Zabala; Jaime L Matta; Alvaro N Monteiro Journal: Breast Cancer Res Treat Date: 2015-11-12 Impact factor: 4.872