Literature DB >> 19080736

Clinical implications of low-penetrance breast cancer susceptibility alleles.

Francis Freisinger1, Susan M Domchek.   

Abstract

Our understanding of breast cancer genetics is evolving beyond deleterious mutations in BRCA1 and BRCA2. In the past several years, several low- and moderate-risk breast cancer susceptibility alleles have been identified that have a relative risk for breast cancer of < or = 2. The availability of new techniques such as genome-wide association studies ensures that more low-risk alleles will be identified. This article reviews our current understanding of low-penetrance genes, with a specific focus on their clinical implications.

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Year:  2009        PMID: 19080736     DOI: 10.1007/s11912-009-0003-9

Source DB:  PubMed          Journal:  Curr Oncol Rep        ISSN: 1523-3790            Impact factor:   5.075


  38 in total

1.  A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer.

Authors:  Pia Vahteristo; Jirina Bartkova; Hannaleena Eerola; Kirsi Syrjäkoski; Salla Ojala; Outi Kilpivaara; Anitta Tamminen; Juha Kononen; Kristiina Aittomäki; Päivi Heikkilä; Kaija Holli; Carl Blomqvist; Jiri Bartek; Olli-P Kallioniemi; Heli Nevanlinna
Journal:  Am J Hum Genet       Date:  2002-07-28       Impact factor: 11.025

2.  The emerging landscape of breast cancer susceptibility.

Authors:  Michael R Stratton; Nazneen Rahman
Journal:  Nat Genet       Date:  2008-01       Impact factor: 38.330

3.  Polygenes, risk prediction, and targeted prevention of breast cancer.

Authors:  Paul D P Pharoah; Antonis C Antoniou; Douglas F Easton; Bruce A J Ponder
Journal:  N Engl J Med       Date:  2008-06-26       Impact factor: 91.245

4.  Increased risk of breast cancer associated with CHEK2*1100delC.

Authors:  Maren Weischer; Stig Egil Bojesen; Anne Tybjaerg-Hansen; Christen Kirk Axelsson; Børge Grønne Nordestgaard
Journal:  J Clin Oncol       Date:  2006-07-31       Impact factor: 44.544

5.  Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:  Antonis C Antoniou; Amanda B Spurdle; Olga M Sinilnikova; Sue Healey; Karen A Pooley; Rita K Schmutzler; Beatrix Versmold; Christoph Engel; Alfons Meindl; Norbert Arnold; Wera Hofmann; Christian Sutter; Dieter Niederacher; Helmut Deissler; Trinidad Caldes; Kati Kämpjärvi; Heli Nevanlinna; Jacques Simard; Jonathan Beesley; Xiaoqing Chen; Susan L Neuhausen; Timothy R Rebbeck; Theresa Wagner; Henry T Lynch; Claudine Isaacs; Jeffrey Weitzel; Patricia A Ganz; Mary B Daly; Gail Tomlinson; Olufunmilayo I Olopade; Joanne L Blum; Fergus J Couch; Paolo Peterlongo; Siranoush Manoukian; Monica Barile; Paolo Radice; Csilla I Szabo; Lutecia H Mateus Pereira; Mark H Greene; Gad Rennert; Flavio Lejbkowicz; Ofra Barnett-Griness; Irene L Andrulis; Hilmi Ozcelik; Anne-Marie Gerdes; Maria A Caligo; Yael Laitman; Bella Kaufman; Roni Milgrom; Eitan Friedman; Susan M Domchek; Katherine L Nathanson; Ana Osorio; Gemma Llort; Roger L Milne; Javier Benítez; Ute Hamann; Frans B L Hogervorst; Peggy Manders; Marjolijn J L Ligtenberg; Ans M W van den Ouweland; Susan Peock; Margaret Cook; Radka Platte; D Gareth Evans; Rosalind Eeles; Gabriella Pichert; Carol Chu; Diana Eccles; Rosemarie Davidson; Fiona Douglas; Andrew K Godwin; Laure Barjhoux; Sylvie Mazoyer; Hagay Sobol; Violaine Bourdon; François Eisinger; Agnès Chompret; Corinne Capoulade; Brigitte Bressac-de Paillerets; Gilbert M Lenoir; Marion Gauthier-Villars; Claude Houdayer; Dominique Stoppa-Lyonnet; Georgia Chenevix-Trench; Douglas F Easton
Journal:  Am J Hum Genet       Date:  2008-03-20       Impact factor: 11.025

Review 6.  CHK2 kinase: cancer susceptibility and cancer therapy - two sides of the same coin?

Authors:  Laurent Antoni; Nayanta Sodha; Ian Collins; Michelle D Garrett
Journal:  Nat Rev Cancer       Date:  2007-12       Impact factor: 60.716

7.  Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.

Authors:  Sheila Seal; Deborah Thompson; Anthony Renwick; Anna Elliott; Patrick Kelly; Rita Barfoot; Tasnim Chagtai; Hiran Jayatilake; Munaza Ahmed; Katarina Spanova; Bernard North; Lesley McGuffog; D Gareth Evans; Diana Eccles; Douglas F Easton; Michael R Stratton; Nazneen Rahman
Journal:  Nat Genet       Date:  2006-10-08       Impact factor: 38.330

8.  PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.

Authors:  Nazneen Rahman; Sheila Seal; Deborah Thompson; Patrick Kelly; Anthony Renwick; Anna Elliott; Sarah Reid; Katarina Spanova; Rita Barfoot; Tasnim Chagtai; Hiran Jayatilake; Lesley McGuffog; Sandra Hanks; D Gareth Evans; Diana Eccles; Douglas F Easton; Michael R Stratton
Journal:  Nat Genet       Date:  2006-12-31       Impact factor: 38.330

9.  Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study.

Authors:  Kristjana Einarsdóttir; Lena U Rosenberg; Keith Humphreys; Carine Bonnard; Juni Palmgren; Yuqing Li; Yi Li; Kee S Chia; Edison T Liu; Per Hall; Jianjun Liu; Sara Wedrén
Journal:  Breast Cancer Res       Date:  2006       Impact factor: 6.466

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

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