Literature DB >> 9758598

Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes.

E Friedman, R Bar-Sade Bruchim, A Kruglikova, S Risel, E Levy-Lahad, D Halle, E Bar-On, R Gershoni-Baruch, E Dagan, I Kepten, T Peretz, I Lerer, N Wienberg, A Shushan, A D Abeliovich.   

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Year:  1998        PMID: 9758598      PMCID: PMC1377473          DOI: 10.1086/302040

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  13 in total

1.  Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population.

Authors:  O Lavie; S Narod; F Lejbkowicz; S Dishon; Y Goldberg; O Gemer; G Rennert
Journal:  Ann Oncol       Date:  2010-10-05       Impact factor: 32.976

Review 2.  The genetic epidemiology of breast cancer genes.

Authors:  Deborah Thompson; Douglas Easton
Journal:  J Mammary Gland Biol Neoplasia       Date:  2004-07       Impact factor: 2.673

Review 3.  Hereditary breast cancer in Jews.

Authors:  Wendy S Rubinstein
Journal:  Fam Cancer       Date:  2004       Impact factor: 2.375

4.  Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.

Authors:  Ane Y Steffensen; Lars Jønson; Bent Ejlertsen; Anne-Marie Gerdes; Finn C Nielsen; Thomas V O Hansen
Journal:  Fam Cancer       Date:  2010-09       Impact factor: 2.375

5.  Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

Authors:  Timothy R Rebbeck; Tara M Friebel; Nandita Mitra; Fei Wan; Stephanie Chen; Irene L Andrulis; Paraskevi Apostolou; Norbert Arnold; Banu K Arun; Daniel Barrowdale; Javier Benitez; Raanan Berger; Pascaline Berthet; Ake Borg; Saundra S Buys; Trinidad Caldes; Jonathan Carter; Jocelyne Chiquette; Kathleen B M Claes; Fergus J Couch; Cezary Cybulski; Mary B Daly; Miguel de la Hoya; Orland Diez; Susan M Domchek; Katherine L Nathanson; Katarzyna Durda; Steve Ellis; D Gareth Evans; Lenka Foretova; Eitan Friedman; Debra Frost; Patricia A Ganz; Judy Garber; Gord Glendon; Andrew K Godwin; Mark H Greene; Jacek Gronwald; Eric Hahnen; Emily Hallberg; Ute Hamann; Thomas V O Hansen; Evgeny N Imyanitov; Claudine Isaacs; Anna Jakubowska; Ramunas Janavicius; Katarzyna Jaworska-Bieniek; Esther M John; Beth Y Karlan; Bella Kaufman; KConFab Investigators; Ava Kwong; Yael Laitman; Christine Lasset; Conxi Lazaro; Jenny Lester; Niklas Loman; Jan Lubinski; Siranoush Manoukian; Gillian Mitchell; Marco Montagna; Susan L Neuhausen; Heli Nevanlinna; Dieter Niederacher; Robert L Nussbaum; Kenneth Offit; Edith Olah; Olufunmilayo I Olopade; Sue Kyung Park; Marion Piedmonte; Paolo Radice; Christine Rappaport-Fuerhauser; Matti A Rookus; Caroline Seynaeve; Jacques Simard; Christian F Singer; Penny Soucy; Melissa Southey; Dominique Stoppa-Lyonnet; Grzegorz Sukiennicki; Csilla I Szabo; Mariella Tancredi; Manuel R Teixeira; Soo-Hwang Teo; Mary Beth Terry; Mads Thomassen; Laima Tihomirova; Marc Tischkowitz; Amanda Ewart Toland; Aleksandra Toloczko-Grabarek; Nadine Tung; Elizabeth J van Rensburg; Danylo Villano; Shan Wang-Gohrke; Barbara Wappenschmidt; Jeffrey N Weitzel; Jamal Zidan; Kristin K Zorn; Lesley McGuffog; Douglas Easton; Georgia Chenevix-Trench; Antonis C Antoniou; Susan J Ramus
Journal:  Breast Cancer Res       Date:  2016-11-11       Impact factor: 6.466

6.  Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.

Authors:  Jose Buleje; Maria Guevara-Fujita; Oscar Acosta; Francia D P Huaman; Pierina Danos; Alexis Murillo; Joseph A Pinto; Jhajaira M Araujo; Alfredo Aguilar; Jaime Ponce; Carlos Vigil; Carlos Castaneda; Gabriela Calderon; Henry L Gomez; Ricardo Fujita
Journal:  Mol Genet Genomic Med       Date:  2017-06-28       Impact factor: 2.183

7.  Association between hereditary predisposition to common cancers and congenital multimalformations.

Authors:  Fabrice Kwiatkowski; Isabelle Perthus; Nancy Uhrhammer; Christine Francannet; Marie Arbre; Yannick Bidet; Yves-Jean Bignon
Journal:  Congenit Anom (Kyoto)       Date:  2019-03-12       Impact factor: 1.409

8.  Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening.

Authors:  A Smith; A Moran; M C Boyd; M Bulman; A Shenton; L Smith; R Iddenden; E R Woodward; F Lalloo; E R Maher; D G R Evans
Journal:  J Med Genet       Date:  2006-11-01       Impact factor: 6.318

9.  Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

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

10.  Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.

Authors:  Raffaele Palmirotta; Domenica Lovero; Luigia Stefania Stucci; Erica Silvestris; Davide Quaresmini; Angela Cardascia; Franco Silvestris
Journal:  Int J Mol Sci       Date:  2018-01-18       Impact factor: 5.923

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