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The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.

Human mutation - 1 Mar 2016

Smith Miriam J, Urquhart Jill E, Harkness Elaine F, Miles Emma K, Bowers Naomi L, Byers Helen J, Bulman Michael, Gokhale Carolyn, Wallace Andrew J, Newman William G, Evans D Gareth

Abstract excerpt

Heterozygous whole gene deletions (WGDs), and intragenic microdeletions, account for a significant proportion of mutations underlying cancer predisposition syndromes. We analyzed the frequency and genotype-phenotype correlations of microdeletions in 12 genes (BRCA1, BRCA2, TP53, MSH2, MLH1, MSH6, PMS2, NF1, NF2, APC, PTCH1, and VHL) representing seven tumor predisposition syndromes in 5,897 individuals (2,611...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26615784
DOI: 10.1002/humu.22938

Genes

APC
BRCA1
BRCA2
MLH1
MSH2
MSH6
PMS2
PTCH1
VHL

Provenance

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