Incorporation of semi‐quantitative analysis of splicing alterations for the clinical interpretation of variants inBRCA1andBRCA2genes-Reference-Cited by-同舟云学术

Incorporation of semi‐quantitative analysis of splicing alterations for the clinical interpretation of variants inBRCA1andBRCA2genes

Published:2019-08-26 Issue:12 Volume:40 Page:2296-2317
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Montalban Gemma¹^ORCID,Bonache Sandra¹,Moles‐Fernández Alejandro¹^ORCID,Gadea Neus²³,Tenés Anna⁴,Torres‐Esquius Sara²,Carrasco Estela²,Balmaña Judith²³,Diez Orland¹⁴,Gutiérrez‐Enríquez Sara¹^ORCID

Affiliation:

1. Oncogenetics GroupVall d'Hebron Institute of Oncology (VHIO) Barcelona Spain

2. High Risk and Cancer Prevention GroupVall d'Hebron Institute of Oncology (VHIO) Barcelona Spain

3. Medical Oncology DepartmentUniversity Hospital of Vall d'Hebron Barcelona Spain

4. Area of Clinical and Molecular GeneticsUniversity Hospital of Vall d'Hebron Barcelona Spain

Funder

Fundación Científica Asociación Española Contra el Cáncer

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23882

Reference51 articles.

1. Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons

2. Splicing mutations in human genetic disorders: examples, detection, and confirmation

3. Thorough in silico and in vitro cDNA analysis of 21 putativeBRCA1andBRCA2splice variants and a complex tandem duplication inBRCA2allowing the identification of activated cryptic splice donor sites inBRCA2exon 11

4. Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing

5. Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

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