Literature DB >> 21283087

Tests of association for rare variants: case control mutation screening.

Sean V Tavtigian, Mia Hashibe, Alun Thomas.   

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Year:  2011        PMID： 21283087      PMCID： PMC3889473          DOI： 10.1038/nrg2867-c1

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


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  11 in total

1.  Pooled association tests for rare variants in exon-resequencing studies.

Authors:  Alkes L Price; Gregory V Kryukov; Paul I W de Bakker; Shaun M Purcell; Jeff Staples; Lee-Jen Wei; Shamil R Sunyaev
Journal:  Am J Hum Genet       Date:  2010-05-13       Impact factor: 11.025

Review 2.  Rare variant association analysis methods for complex traits.

Authors:  Jennifer Asimit; Eleftheria Zeggini
Journal:  Annu Rev Genet       Date:  2010       Impact factor: 16.830

3.  Heterozygous ATM mutations do not contribute to early onset of breast cancer.

Authors:  M G FitzGerald; J M Bean; S R Hegde; H Unsal; D J MacDonald; D P Harkin; D M Finkelstein; K J Isselbacher; D A Haber
Journal:  Nat Genet       Date:  1997-03       Impact factor: 38.330

4.  Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study.

Authors:  Jonine L Bernstein; Robert W Haile; Marilyn Stovall; John D Boice; Roy E Shore; Bryan Langholz; Duncan C Thomas; Leslie Bernstein; Charles F Lynch; Jorgen H Olsen; Kathleen E Malone; Lene Mellemkjaer; Anne-Lise Borresen-Dale; Barry S Rosenstein; Sharon N Teraoka; Anh T Diep; Susan A Smith; Marinela Capanu; Anne S Reiner; Xiaolin Liang; Richard A Gatti; Patrick Concannon
Journal:  J Natl Cancer Inst       Date:  2010-03-19       Impact factor: 13.506

Review 5.  Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations.

Authors:  R A Gatti; A Tward; P Concannon
Journal:  Mol Genet Metab       Date:  1999-12       Impact factor: 4.797

6.  Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

Authors:  Sean V Tavtigian; Graham B Byrnes; David E Goldgar; Alun Thomas
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

7.  Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

Authors:  Sean V Tavtigian; Peter J Oefner; Davit Babikyan; Anne Hartmann; Sue Healey; Florence Le Calvez-Kelm; Fabienne Lesueur; Graham B Byrnes; Shu-Chun Chuang; Nathalie Forey; Corinna Feuchtinger; Lydie Gioia; Janet Hall; Mia Hashibe; Barbara Herte; Sandrine McKay-Chopin; Alun Thomas; Maxime P Vallée; Catherine Voegele; Penelope M Webb; David C Whiteman; Suleeporn Sangrajrang; John L Hopper; Melissa C Southey; Irene L Andrulis; Esther M John; Georgia Chenevix-Trench
Journal:  Am J Hum Genet       Date:  2009-09-24       Impact factor: 11.025

8.  ATM missense mutations are frequent in patients with breast cancer.

Authors:  Steve S Sommer; Zefei Jiang; Jinong Feng; Carolyn H Buzin; Jian Zheng; Jeffrey Longmate; Mira Jung; Jefferson Moulds; Anatoly Dritschilo
Journal:  Cancer Genet Cytogenet       Date:  2003-09

9.  ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.

Authors:  Anthony Renwick; Deborah Thompson; Sheila Seal; Patrick Kelly; Tasnim Chagtai; Munaza Ahmed; Bernard North; Hiran Jayatilake; Rita Barfoot; Katarina Spanova; Lesley McGuffog; D Gareth Evans; Diana Eccles; Douglas F Easton; Michael R Stratton; Nazneen Rahman
Journal:  Nat Genet       Date:  2006-07-09       Impact factor: 38.330

10.  Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.

Authors:  Florence Le Calvez-Kelm; Fabienne Lesueur; Francesca Damiola; Maxime Vallée; Catherine Voegele; Davit Babikyan; Geoffroy Durand; Nathalie Forey; Sandrine McKay-Chopin; Nivonirina Robinot; Tù Nguyen-Dumont; Alun Thomas; Graham B Byrnes; John L Hopper; Melissa C Southey; Irene L Andrulis; Esther M John; Sean V Tavtigian
Journal:  Breast Cancer Res       Date:  2011-01-18       Impact factor: 6.466
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  2 in total

Review 1.  Growing recognition of the role for rare missense substitutions in breast cancer susceptibility.

Authors:  Sean V Tavtigian; Georgia Chenevix-Trench
Journal:  Biomark Med       Date:  2014       Impact factor: 2.851

2.  Predicting cancer-associated germline variations in proteins.

Authors:  Pier Luigi Martelli; Piero Fariselli; Eva Balzani; Rita Casadio
Journal:  BMC Genomics       Date:  2012-06-18       Impact factor: 3.969
  2 in total

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