Literature DB >> 20054658

LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not.

E Beristain1, I Guerra, N Vidaurrazaga, J Burgos-Bretones, M I Tejada.   

Abstract

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Year:  2010        PMID： 20054658     DOI： 10.1007/s10689-009-9318-9

Source DB:  PubMed          Journal:  Fam Cancer        ISSN： 1389-9600            Impact factor:   2.375


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  7 in total

1.  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

2.  Is early onset breast cancer with no family history a good criterion for testing BRCA1 and BRCA2 genes? A small population-based study.

Authors:  E Beristain; C Martínez-Bouzas; G Mallabiabarrena; M I Tejada
Journal:  Clin Genet       Date:  2009-03-23       Impact factor: 4.438

3.  Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information.

Authors:  A Osorio; R L Milne; E Honrado; A Barroso; O Diez; R Salazar; M de la Hoya; A Vega; J Benítez
Journal:  Hum Mutat       Date:  2007-05       Impact factor: 4.878

4.  Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.

Authors:  E Beristain; C Martínez-Bouzas; I Guerra; N Viguera; J Moreno; E Ibañez; J Díez; F Rodríguez; G Mallabiabarrena; S Luján; J Gorostiaga; J L De Pablo; J L Mendizabal; M I Tejada
Journal:  Breast Cancer Res Treat       Date:  2007-01-30       Impact factor: 4.872

5.  Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer.

Authors:  Ana Osorio; Miguel de la Hoya; Raquel Rodríguez-López; Angel Martínez-Ramírez; Alicia Cazorla; Juan José Granizo; Manel Esteller; Carmen Rivas; Trinidad Caldés; Javier Benítez
Journal:  Int J Cancer       Date:  2002-05-10       Impact factor: 7.396

6.  Methylation not a frequent "second hit" in tumors with germline BRCA mutations.

Authors:  Amy M Dworkin; Andrew D Spearman; Stephanie Y Tseng; Kevin Sweet; Amanda Ewart Toland
Journal:  Fam Cancer       Date:  2009-04-02       Impact factor: 2.375

7.  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
  7 in total
  4 in total

Review 1.  A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Authors:  Noralane M Lindor; Lucia Guidugli; Xianshu Wang; Maxime P Vallée; Alvaro N A Monteiro; Sean Tavtigian; David E Goldgar; Fergus J Couch
Journal:  Hum Mutat       Date:  2011-11-03       Impact factor: 4.878

2.  Evidence for a pathogenic role of BRCA1 L1705P and W1837X germ-line mutations.

Authors:  Anna P Sokolenko; Nikita M Volkov; Elena V Preobrazhenskaya; Evgeny N Suspitsin; Aigul R Garifullina; Alexandr V Ivantsov; Alexandr V Togo; Evgeny N Imyanitov
Journal:  Mol Biol Rep       Date:  2016-03-07       Impact factor: 2.316

3.  Systemic treatment for hereditary cancers: a 2012 update.

Authors:  Evgeny N Imyanitov; Tomasz Byrski
Journal:  Hered Cancer Clin Pract       Date:  2013-04-01       Impact factor: 2.857

4.  Value of the loss of heterozygosity to BRCA1 variant classification.

Authors:  Sandrine M Caputo; Etienne Rouleau; Elizabeth Santana Dos Santos; Amanda B Spurdle; Dirce M Carraro; Adrien Briaux; Melissa Southey; Giovana Torrezan; Ambre Petitalot; Raphael Leman; Philippe Lafitte; Didier Meseure; Keltouma Driouch; Lucy Side; Carole Brewer; Sarah Beck; Athalie Melville; Alison Callaway; Françoise Revillion; Maria A A Koike Folgueira; Michael T Parsons; Heather Thorne; Anne Vincent-Salomon; Dominique Stoppa-Lyonnet; Ivan Bieche
Journal:  NPJ Breast Cancer       Date:  2022-01-17
  4 in total

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