A missense variant within BRCA1 exon 23 causing exon skipping-Reference-Cited by-同舟云学术

A missense variant within BRCA1 exon 23 causing exon skipping

Published:2010-10 Issue:2 Volume:202 Page:144-146
ISSN:0165-4608
Container-title:Cancer Genetics and Cytogenetics
language:en
Short-container-title:Cancer Genetics and Cytogenetics

Author:

Rouleau Etienne,Lefol Cédrick,Moncoutier Virginie,Castera Laurent,Houdayer Claude,Caputo Sandrine,Bièche Ivan,Buisson Monique,Mazoyer Sylvie,Stoppa-Lyonnet Dominique,Noguès Catherine,Lidereau Rosette

Publisher

Elsevier BV

Subject

Cancer Research,Genetics,Molecular Biology

Reference8 articles.

1. Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information;Osorio;Hum Mutat,2007

2. A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history;Gomez Garcia;Breast Cancer Res,2009

3. Pyrosequencing: an accurate detection platform for single nucleotide polymorphisms;Fakhrai-Rad;Hum Mutat,2002

4. Human Splicing Finder: an online bioinformatics tool to predict splicing signals;Desmet;Nucleic Acids Res,2009

5. A BRCA1 variant, IVS23+1G>A, causes abnormal RNA splicing by deleting exon 23;Laskie Ostrow;Cancer Genet Cytogenet,2001

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2. Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars;Human Mutation;2020-07-17

3. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification;Human Mutation;2019-09

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5. Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk;Molecular Cancer Research;2018-09-26