Literature DB >> 25256238

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru.

J Abugattas1, M Llacuachaqui2, Y Sullcahuaman Allende3,4, A Arias Velásquez3, R Velarde1, J Cotrina1, M Garcés1, M León1, G Calderón1, M de la Cruz1, P Mora1, R Royer2, J Herzog5, J N Weitzel5, S A Narod2.   

Abstract

The prevalence of BRCA1 and BRCA2 mutations among breast cancer patients in Peru has not yet been explored. We enrolled 266 women with breast cancer from a National cancer hospital in Lima, Peru, unselected for age or family history. DNA was screened with a panel of 114 recurrent Hispanic BRCA mutations (HISPANEL). Among the 266 cases, 13 deleterious mutations were identified (11 in BRCA1 and 2 in BRCA2), representing 5% of the total. The average age of breast cancer in the mutation-positive cases was 44 years. BRCA1 185delAG represented 7 of 11 mutations in BRCA1. Other mutations detected in BRCA1 included: two 2080delA, one 943ins10, and one 3878delTA. The BRCA2 3036del4 mutation was seen in two patients. Given the relatively low cost of the HISPANEL test, one should consider offering this test to all Peruvian women with breast or ovarian cancer.
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  BRCA1; BRCA2; Peru; breast cancer; hereditary

Mesh:

Substances:

Year:  2014        PMID: 25256238      PMCID: PMC4374018          DOI: 10.1111/cge.12505

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  31 in total

1.  Reduced mammographic density with use of a gonadotropin-releasing hormone agonist-based chemoprevention regimen in BRCA1 carriers.

Authors:  Jeffrey N Weitzel; Saundra S Buys; William H Sherman; AnnaMarie Daniels; Giske Ursin; John R Daniels; Deborah J MacDonald; Kathleen R Blazer; Malcolm C Pike; Darcy V Spicer
Journal:  Clin Cancer Res       Date:  2007-01-15       Impact factor: 12.531

2.  Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.

Authors:  Susan M Domchek; Tara M Friebel; Christian F Singer; D Gareth Evans; Henry T Lynch; Claudine Isaacs; Judy E Garber; Susan L Neuhausen; Ellen Matloff; Rosalind Eeles; Gabriella Pichert; Laura Van t'veer; Nadine Tung; Jeffrey N Weitzel; Fergus J Couch; Wendy S Rubinstein; Patricia A Ganz; Mary B Daly; Olufunmilayo I Olopade; Gail Tomlinson; Joellen Schildkraut; Joanne L Blum; Timothy R Rebbeck
Journal:  JAMA       Date:  2010-09-01       Impact factor: 56.272

3.  Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network.

Authors:  Jeffrey N Weitzel; Jessica Clague; Arelis Martir-Negron; Raquel Ogaz; Josef Herzog; Charité Ricker; Chelsy Jungbluth; Cheryl Cina; Paul Duncan; Gary Unzeitig; J Salvador Saldivar; Mary Beattie; Nancy Feldman; Sharon Sand; Danielle Port; Deborah I Barragan; Esther M John; Susan L Neuhausen; Garrett P Larson
Journal:  J Clin Oncol       Date:  2012-12-10       Impact factor: 44.544

4.  Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico.

Authors:  Cynthia Villarreal-Garza; Rosa María Alvarez-Gómez; Carlos Pérez-Plasencia; Luis A Herrera; Josef Herzog; Danielle Castillo; Alejandro Mohar; Clementina Castro; Lenny N Gallardo; Dolores Gallardo; Miguel Santibáñez; Kathleen R Blazer; Jeffrey N Weitzel
Journal:  Cancer       Date:  2014-09-18       Impact factor: 6.860

5.  BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast-ovarian cancer families. Identification of novel mutations and unclassified variants.

Authors:  L Delgado; G Fernández; G Grotiuz; S Cataldi; A González; N Lluveras; M Heguaburu; R Fresco; D Lens; G Sabini; I M Muse
Journal:  Breast Cancer Res Treat       Date:  2010-12-29       Impact factor: 4.872

6.  High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia.

Authors:  Diana Torres; Muhammad Usman Rashid; Fabian Gil; Angela Umana; Giancarlo Ramelli; Jose Fernando Robledo; Mauricio Tawil; Lilian Torregrosa; Ignacio Briceno; Ute Hamann
Journal:  Breast Cancer Res Treat       Date:  2006-11-02       Impact factor: 4.872

7.  Variation in cancer risks, by mutation position, in BRCA2 mutation carriers.

Authors:  D Thompson; D Easton
Journal:  Am J Hum Genet       Date:  2001-01-19       Impact factor: 11.025

8.  Screening for BRCA1 and BRCA2 mutations in breast cancer patients from Mexico: the public health perspective.

Authors:  Steven A Narod
Journal:  Salud Publica Mex       Date:  2009

Review 9.  Breast cancer genetics in African Americans.

Authors:  Olufunmilayo I Olopade; James D Fackenthal; Georgia Dunston; Michael A Tainsky; Francis Collins; Carolyn Whitfield-Broome
Journal:  Cancer       Date:  2003-01-01       Impact factor: 6.860

10.  Genome-wide association study identifies novel breast cancer susceptibility loci.

Authors:  Douglas F Easton; Karen A Pooley; Alison M Dunning; Paul D P Pharoah; Deborah Thompson; Dennis G Ballinger; Jeffery P Struewing; Jonathan Morrison; Helen Field; Robert Luben; Nicholas Wareham; Shahana Ahmed; Catherine S Healey; Richard Bowman; Kerstin B Meyer; Christopher A Haiman; Laurence K Kolonel; Brian E Henderson; Loic Le Marchand; Paul Brennan; Suleeporn Sangrajrang; Valerie Gaborieau; Fabrice Odefrey; Chen-Yang Shen; Pei-Ei Wu; Hui-Chun Wang; Diana Eccles; D Gareth Evans; Julian Peto; Olivia Fletcher; Nichola Johnson; Sheila Seal; Michael R Stratton; Nazneen Rahman; Georgia Chenevix-Trench; Stig E Bojesen; Børge G Nordestgaard; Christen K Axelsson; Montserrat Garcia-Closas; Louise Brinton; Stephen Chanock; Jolanta Lissowska; Beata Peplonska; Heli Nevanlinna; Rainer Fagerholm; Hannaleena Eerola; Daehee Kang; Keun-Young Yoo; Dong-Young Noh; Sei-Hyun Ahn; David J Hunter; Susan E Hankinson; David G Cox; Per Hall; Sara Wedren; Jianjun Liu; Yen-Ling Low; Natalia Bogdanova; Peter Schürmann; Thilo Dörk; Rob A E M Tollenaar; Catharina E Jacobi; Peter Devilee; Jan G M Klijn; Alice J Sigurdson; Michele M Doody; Bruce H Alexander; Jinghui Zhang; Angela Cox; Ian W Brock; Gordon MacPherson; Malcolm W R Reed; Fergus J Couch; Ellen L Goode; Janet E Olson; Hanne Meijers-Heijboer; Ans van den Ouweland; André Uitterlinden; Fernando Rivadeneira; Roger L Milne; Gloria Ribas; Anna Gonzalez-Neira; Javier Benitez; John L Hopper; Margaret McCredie; Melissa Southey; Graham G Giles; Chris Schroen; Christina Justenhoven; Hiltrud Brauch; Ute Hamann; Yon-Dschun Ko; Amanda B Spurdle; Jonathan Beesley; Xiaoqing Chen; Arto Mannermaa; Veli-Matti Kosma; Vesa Kataja; Jaana Hartikainen; Nicholas E Day; David R Cox; Bruce A J Ponder
Journal:  Nature       Date:  2007-06-28       Impact factor: 49.962

View more
  28 in total

1.  Evidence for an ancient BRCA1 pathogenic variant in inherited breast cancer patients from Senegal.

Authors:  Rokhaya Ndiaye; Jean Pascal Demba Diop; Violaine Bourdon-Huguenin; Ahmadou Dem; Doudou Diouf; Mamadou Moustapha Dieng; Pape Saloum Diop; Serigne Modou Kane Gueye; Seydi Abdoul Ba; Yacouba Dia; Sidy Ka; Babacar Mbengue; Alassane Thiam; Maguette Sylla Niang; Papa Madieye Gueye; Oumar Faye; Philomene Lopez Sall; Aynina Cisse; Papa Amadou Diop; Hagay Sobol; Alioune Dieye
Journal:  NPJ Genom Med       Date:  2020-01-31       Impact factor: 8.617

Review 2.  Mutations in context: implications of BRCA testing in diverse populations.

Authors:  Gabriela E S Felix; Yonglan Zheng; Olufunmilayo I Olopade
Journal:  Fam Cancer       Date:  2018-10       Impact factor: 2.375

3.  Genomic Disparities in Breast Cancer Among Latinas.

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

4.  Low Prevalence of the Four Common Colombian Founder Mutations in BRCA1 and BRCA2 in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer.

Authors:  Elizabeth Vargas; Diana Maria Torres Lopez; Robert de Deugd; Fabian Gil; Alejandra Nova; Lina Mora; Luis Fernando Viaña; José David Hernandez; Ricardo Bruges; Ute Hamann
Journal:  Oncologist       Date:  2018-12-12

5.  The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer.

Authors:  C Villarreal-Garza; J N Weitzel; M Llacuachaqui; E Sifuentes; M C Magallanes-Hoyos; L Gallardo; R M Alvarez-Gómez; J Herzog; D Castillo; R Royer; Mohammad Akbari; F Lara-Medina; L A Herrera; A Mohar; S A Narod
Journal:  Breast Cancer Res Treat       Date:  2015-02-26       Impact factor: 4.872

Review 6.  Genetic Cancer Risk Assessment for Breast Cancer in Latin America.

Authors:  Yanin Chavarri-Guerra; Kathleen Reilly Blazer; Jeffrey Nelson Weitzel
Journal:  Rev Invest Clin       Date:  2017 Mar-Apr       Impact factor: 1.451

7.  BRCA1, BRCA2, TP53, PIK3CA, PTEN and AKT1 genes mutations in Burkina Faso breast cancer patients: prevalence, spectrum and novel variant.

Authors:  Serge Yannick Ouedraogo; Abdou Azaque Zoure; Moutanou Modeste Judes Zeye; Touwendpoulimdé Isabelle Kiendrebeogo; Xi Zhou; Alexis Yobi Sawadogo; Jacques Simpore; Hanchun Chen
Journal:  Mol Genet Genomics       Date:  2022-06-22       Impact factor: 2.980

8.  Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation.

Authors:  Pascal Pujol; Kevin Yauy; Amandine Coffy; Nicolas Duforet-Frebourg; Sana Gabteni; Jean-Pierre Daurès; Frédérique Penault Llorca; Frédéric Thomas; Kevin Hughes; Clare Turnbull; Virginie Galibert; Chloé Rideau; Carole Corsini; Laetitia Collet; Benoit You; David Geneviève; Nicolas Philippe
Journal:  Cancers (Basel)       Date:  2022-07-04       Impact factor: 6.575

Review 9.  Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review.

Authors:  Carlos Andrés Ossa; Diana Torres
Journal:  Oncologist       Date:  2016-06-10

10.  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

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.