BACKGROUND: BRCA1-associated breast cancers have been associated to a triple-negative phenotype. The prevalence of BRCA1 germline mutations in young onset TNBC based on informativeness of family history has not been reported. PATIENTS AND METHODS: From January 2008 to May 2009 were collected blood and tumor samples from patients with TNBC younger than 50 years and without a family history of breast and ovarian cancer in first- and second-degree relatives. Analysis of BRCA1 germline mutations was made. Age at diagnosis and informativeness of family history (presence of female in first- and second-degree relatives alive until age 45) was collected in all cases. Immunohistochemistry of basal-like features was performed centrally in all available tumors. RESULTS: Seven pathogenic mutations were detected in 92 patients (7.6 %), two of them in patients younger than 35 years (28.6 %) (Fisher's exact test, p = 0.631). Three non-classified variants were detected (3.2 %). Family history was informative in two patients with a pathogenic mutation (28.6 %) and not informative in five (71.4 %) (Fisher's exact test, p = 0.121). Of the seven patients with a pathogenic mutation, four had a basal-like phenotype. CONCLUSION: Patients with apparently sporadic TNBC younger than 50 years and a non-informative family history are candidates for germline genetic testing of BRCA1.
BACKGROUND:BRCA1-associated breast cancers have been associated to a triple-negative phenotype. The prevalence of BRCA1 germline mutations in young onset TNBC based on informativeness of family history has not been reported. PATIENTS AND METHODS: From January 2008 to May 2009 were collected blood and tumor samples from patients with TNBC younger than 50 years and without a family history of breast and ovarian cancer in first- and second-degree relatives. Analysis of BRCA1 germline mutations was made. Age at diagnosis and informativeness of family history (presence of female in first- and second-degree relatives alive until age 45) was collected in all cases. Immunohistochemistry of basal-like features was performed centrally in all available tumors. RESULTS: Seven pathogenic mutations were detected in 92 patients (7.6 %), two of them in patients younger than 35 years (28.6 %) (Fisher's exact test, p = 0.631). Three non-classified variants were detected (3.2 %). Family history was informative in two patients with a pathogenic mutation (28.6 %) and not informative in five (71.4 %) (Fisher's exact test, p = 0.121). Of the seven patients with a pathogenic mutation, four had a basal-like phenotype. CONCLUSION:Patients with apparently sporadic TNBC younger than 50 years and a non-informative family history are candidates for germline genetic testing of BRCA1.
Authors: S A Vaziri; L M Krumroy; P Elson; G T Budd; G Darlington; J Myles; R R Tubbs; G Casey Journal: Clin Cancer Res Date: 2001-07 Impact factor: 12.531
Authors: José Palacios; Emiliano Honrado; Ana Osorio; Alicia Cazorla; David Sarrió; Alicia Barroso; Sandra Rodríguez; Juan C Cigudosa; Orland Diez; Carmen Alonso; Enrique Lerma; Joaquín Dopazo; Carmen Rivas; Javier Benítez Journal: Breast Cancer Res Treat Date: 2005-03 Impact factor: 4.872
Authors: D Ford; D F Easton; M Stratton; S Narod; D Goldgar; P Devilee; D T Bishop; B Weber; G Lenoir; J Chang-Claude; H Sobol; M D Teare; J Struewing; A Arason; S Scherneck; J Peto; T R Rebbeck; P Tonin; S Neuhausen; R Barkardottir; J Eyfjord; H Lynch; B A Ponder; S A Gayther; M Zelada-Hedman Journal: Am J Hum Genet Date: 1998-03 Impact factor: 11.025
Authors: R Lidereau; F Eisinger; M H Champème; C Noguès; I Bièche; D Birnbaum; C Pallud; J Jacquemier; H Sobol Journal: Cancer Res Date: 2000-03-01 Impact factor: 12.701
Authors: Nasim Mavaddat; Timothy R Rebbeck; Sunil R Lakhani; Douglas F Easton; Antonis C Antoniou Journal: Breast Cancer Res Date: 2010-05-18 Impact factor: 6.466
Authors: William D Foulkes; Kelly Metcalfe; Ping Sun; Wedad M Hanna; Henry T Lynch; Parviz Ghadirian; Nadine Tung; Olufunmilayo I Olopade; Barbara L Weber; Jane McLennan; Ivo A Olivotto; Louis R Bégin; Steven A Narod Journal: Clin Cancer Res Date: 2004-03-15 Impact factor: 12.531
Authors: Hannaleena Eerola; Päivi Heikkilä; Anitta Tamminen; Kristiina Aittomäki; Carl Blomqvist; Heli Nevanlinna Journal: Breast Cancer Res Date: 2005-04-21 Impact factor: 6.466
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Authors: Priyanka Sharma; Sara López-Tarruella; Jose Angel García-Saenz; Claire Ward; Carol S Connor; Henry L Gómez; Aleix Prat; Fernando Moreno; Yolanda Jerez-Gilarranz; Augusti Barnadas; Antoni C Picornell; Maria Del Monte-Millán; Milagros Gonzalez-Rivera; Tatiana Massarrah; Beatriz Pelaez-Lorenzo; María Isabel Palomero; Ricardo González Del Val; Javier Cortes; Hugo Fuentes Rivera; Denisse Bretel Morales; Iván Márquez-Rodas; Charles M Perou; Jamie L Wagner; Joshua M V Mammen; Marilee K McGinness; Jennifer R Klemp; Amanda L Amin; Carol J Fabian; Jaimie Heldstab; Andrew K Godwin; Roy A Jensen; Bruce F Kimler; Qamar J Khan; Miguel Martin Journal: Clin Cancer Res Date: 2016-06-14 Impact factor: 12.531
Authors: Amanda B Spurdle; Fergus J Couch; Michael T Parsons; Lesley McGuffog; Daniel Barrowdale; Manjeet K Bolla; Qin Wang; Sue Healey; Rita Schmutzler; Barbara Wappenschmidt; Kerstin Rhiem; Eric Hahnen; Christoph Engel; Alfons Meindl; Nina Ditsch; Norbert Arnold; Hansjoerg Plendl; Dieter Niederacher; Christian Sutter; Shan Wang-Gohrke; Doris Steinemann; Sabine Preisler-Adams; Karin Kast; Raymonda Varon-Mateeva; Steve Ellis; Debra Frost; Radka Platte; Jo Perkins; D Gareth Evans; Louise Izatt; Ros Eeles; Julian Adlard; Rosemarie Davidson; Trevor Cole; Giulietta Scuvera; Siranoush Manoukian; Bernardo Bonanni; Frederique Mariette; Stefano Fortuzzi; Alessandra Viel; Barbara Pasini; Laura Papi; Liliana Varesco; Rosemary Balleine; Katherine L Nathanson; Susan M Domchek; Kenneth Offitt; Anna Jakubowska; Noralane Lindor; Mads Thomassen; Uffe Birk Jensen; Johanna Rantala; Åke Borg; Irene L Andrulis; Alexander Miron; Thomas V O Hansen; Trinidad Caldes; Susan L Neuhausen; Amanda E Toland; Heli Nevanlinna; Marco Montagna; Judy Garber; Andrew K Godwin; Ana Osorio; Rachel E Factor; Mary B Terry; Timothy R Rebbeck; Beth Y Karlan; Melissa Southey; Muhammad Usman Rashid; Nadine Tung; Paul D P Pharoah; Fiona M Blows; Alison M Dunning; Elena Provenzano; Per Hall; Kamila Czene; Marjanka K Schmidt; Annegien Broeks; Sten Cornelissen; Senno Verhoef; Peter A Fasching; Matthias W Beckmann; Arif B Ekici; Dennis J Slamon; Stig E Bojesen; Børge G Nordestgaard; Sune F Nielsen; Henrik Flyger; Jenny Chang-Claude; Dieter Flesch-Janys; Anja Rudolph; Petra Seibold; Kristiina Aittomäki; Taru A Muranen; Päivi Heikkilä; Carl Blomqvist; Jonine Figueroa; Stephen J Chanock; Louise Brinton; Jolanta Lissowska; Janet E Olson; Vernon S Pankratz; Esther M John; Alice S Whittemore; Dee W West; Ute Hamann; Diana Torres; Hans Ulrich Ulmer; Thomas Rüdiger; Peter Devilee; Robert A E M Tollenaar; Caroline Seynaeve; Christi J Van Asperen; Diana M Eccles; William J Tapper; Lorraine Durcan; Louise Jones; Julian Peto; Isabel dos-Santos-Silva; Olivia Fletcher; Nichola Johnson; Miriam Dwek; Ruth Swann; Anita L Bane; Gord Glendon; Anna M Mulligan; Graham G Giles; Roger L Milne; Laura Baglietto; Catriona McLean; Jane Carpenter; Christine Clarke; Rodney Scott; Hiltrud Brauch; Thomas Brüning; Yon-Dschun Ko; Angela Cox; Simon S Cross; Malcolm W R Reed; Jan Lubinski; Katarzyna Jaworska-Bieniek; Katarzyna Durda; Jacek Gronwald; Thilo Dörk; Natalia Bogdanova; Tjoung-Won Park-Simon; Peter Hillemanns; Christopher A Haiman; Brian E Henderson; Fredrick Schumacher; Loic Le Marchand; Barbara Burwinkel; Frederik Marme; Harald Surovy; Rongxi Yang; Hoda Anton-Culver; Argyrios Ziogas; Maartje J Hooning; J Margriet Collée; John W M Martens; Madeleine M A Tilanus-Linthorst; Hermann Brenner; Aida Karina Dieffenbach; Volke Arndt; Christa Stegmaier; Robert Winqvist; Katri Pylkäs; Arja Jukkola-Vuorinen; Mervi Grip; Annika Lindblom; Sara Margolin; Vijai Joseph; Mark Robson; Rohini Rau-Murthy; Anna González-Neira; José Ignacio Arias; Pilar Zamora; Javier Benítez; Arto Mannermaa; Vesa Kataja; Veli-Matti Kosma; Jaana M Hartikainen; Paolo Peterlongo; Daniela Zaffaroni; Monica Barile; Fabio Capra; Paolo Radice; Soo H Teo; Douglas F Easton; Antonis C Antoniou; Georgia Chenevix-Trench; David E Goldgar Journal: Breast Cancer Res Date: 2014-12-23 Impact factor: 6.466
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