Literature DB >> 18951436

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.

Sean V Tavtigian1, Marc S Greenblatt, David E Goldgar, Paolo Boffetta.   

Abstract

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Year:  2008        PMID： 18951436      PMCID： PMC2966307          DOI： 10.1002/humu.20903

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  20 in total

1.  Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

Authors:  David E Goldgar; Douglas F Easton; Amie M Deffenbaugh; Alvaro N A Monteiro; Sean V Tavtigian; Fergus J Couch
Journal:  Am J Hum Genet       Date:  2004-08-02       Impact factor: 11.025

2.  Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

Authors:  Georgia Chenevix-Trench; Sue Healey; Sunil Lakhani; Paul Waring; Margaret Cummings; Ross Brinkworth; Amie M Deffenbaugh; Lynn Anne Burbidge; Dmitry Pruss; Thad Judkins; Tom Scholl; Anna Bekessy; Anna Marsh; Paul Lovelock; Ming Wong; Andrea Tesoriero; Helene Renard; Melissa Southey; John L Hopper; Koulis Yannoukakos; Melissa Brown; Douglas Easton; Sean V Tavtigian; David Goldgar; Amanda B Spurdle
Journal:  Cancer Res       Date:  2006-02-15       Impact factor: 12.701

3.  Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.

Authors:  S V Tavtigian; A M Deffenbaugh; L Yin; T Judkins; T Scholl; P B Samollow; D de Silva; A Zharkikh; A Thomas
Journal:  J Med Genet       Date:  2005-07-13       Impact factor: 6.318

4.  Most rare missense alleles are deleterious in humans: implications for complex disease and association studies.

Authors:  Gregory V Kryukov; Len A Pennacchio; Shamil R Sunyaev
Journal:  Am J Hum Genet       Date:  2007-03-08       Impact factor: 11.025

5.  Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals.

Authors:  Thomas S Frank; Amie M Deffenbaugh; Julia E Reid; Mark Hulick; Brian E Ward; Beth Lingenfelter; Kathi L Gumpper; Thomas Scholl; Sean V Tavtigian; Dmitry R Pruss; Gregory C Critchfield
Journal:  J Clin Oncol       Date:  2002-03-15       Impact factor: 44.544

6.  Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.

Authors:  David E Goldgar; Douglas F Easton; Graham B Byrnes; Amanda B Spurdle; Edwin S Iversen; Marc S Greenblatt
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

7.  Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.

Authors:  Marc S Greenblatt; Lawrence C Brody; William D Foulkes; Maurizio Genuardi; Robert M W Hofstra; Magali Olivier; Sharon E Plon; Rolf H Sijmons; Olga Sinilnikova; Amanda B Spurdle
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

8.  A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Authors:  Douglas F Easton; Amie M Deffenbaugh; Dmitry Pruss; Cynthia Frye; Richard J Wenstrup; Kristina Allen-Brady; Sean V Tavtigian; Alvaro N A Monteiro; Edwin S Iversen; Fergus J Couch; David E Goldgar
Journal:  Am J Hum Genet       Date:  2007-09-06       Impact factor: 11.025

9.  Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.

Authors:  Amanda B Spurdle; Sunil R Lakhani; Sue Healey; Suzanne Parry; Leonard M Da Silva; Ross Brinkworth; John L Hopper; Melissa A Brown; Davit Babikyan; Georgia Chenevix-Trench; Sean V Tavtigian; David E Goldgar
Journal:  J Clin Oncol       Date:  2008-04-01       Impact factor: 44.544

10.  Who should be sent for genetic testing in hereditary colorectal cancer syndromes?

Authors:  Henry T Lynch; C Richard Boland; Miguel A Rodriguez-Bigas; Christopher Amos; Jane F Lynch; Patrick M Lynch
Journal:  J Clin Oncol       Date:  2007-08-10       Impact factor: 44.544
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  33 in total

Review 1.  BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.

Authors:  D M Eccles; G Mitchell; A N A Monteiro; R Schmutzler; F J Couch; A B Spurdle; E B Gómez-García
Journal:  Ann Oncol       Date:  2015-07-07       Impact factor: 32.976

2.  The genetics and neuropathology of neurodegenerative disorders: perspectives and implications for research and clinical practice.

Authors:  Vivianna M Van Deerlin
Journal:  Acta Neuropathol       Date:  2012-09       Impact factor: 17.088

3.  BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.

Authors:  Noralane M Lindor; David E Goldgar; Sean V Tavtigian; Sharon E Plon; Fergus J Couch
Journal:  Oncologist       Date:  2013-04-24

4.  Expression of cancer related BRCA1 missense variants decreases MMS-induced recombination in Saccharomyces cerevisiae without altering its nuclear localization.

Authors:  Samuele Lodovichi; Martina Vitello; Tiziana Cervelli; Alvaro Galli
Journal:  Cell Cycle       Date:  2016-08-02       Impact factor: 4.534

Review 5.  Human allelic variation: perspective from protein function, structure, and evolution.

Authors:  Daniel M Jordan; Vasily E Ramensky; Shamil R Sunyaev
Journal:  Curr Opin Struct Biol       Date:  2010-06       Impact factor: 6.809

Review 6.  The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

Authors:  Judy Savige; Raymond Dalgleish; Richard Gh Cotton; Johan T den Dunnen; Finlay Macrae; Sue Povey
Journal:  Pediatr Nephrol       Date:  2014-11-11       Impact factor: 3.714

7.  Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases.

Authors:  Atsushi Hijikata; Rajesh Raju; Shivakumar Keerthikumar; Subhashri Ramabadran; Lavanya Balakrishnan; Suresh Kumar Ramadoss; Akhilesh Pandey; Sujatha Mohan; Osamu Ohara
Journal:  DNA Res       Date:  2010-04-01       Impact factor: 4.458

8.  Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs).

Authors:  Sue Povey; Aida I Al Aqeel; Anne Cambon-Thomsen; Raymond Dalgleish; Johan T den Dunnen; Helen V Firth; Marc S Greenblatt; Carol Isaacson Barash; Michael Parker; George P Patrinos; Judith Savige; Maria-Jesus Sobrido; Ingrid Winship; Richard G H Cotton
Journal:  Hum Mutat       Date:  2010-11       Impact factor: 4.878

9.  Novel NKX2-1 Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome.

Authors:  Tiziana de Filippis; Federica Marelli; Maria Cristina Vigone; Marianna Di Frenna; Giovanna Weber; Luca Persani
Journal:  Eur Thyroid J       Date:  2014-10-15

10.  Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del.

Authors:  Arcangela De Nicolo; Emilio Parisini; Quan Zhong; Maurizia Dalla Palma; Kathryn A Stoeckert; Susan M Domchek; Katherine L Nathanson; Maria A Caligo; Marc Vidal; Michael E Cusick; Judy E Garber
Journal:  Cancer Res       Date:  2009-08-25       Impact factor: 12.701
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