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Article

The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

Human molecular genetics - 1 Sept 2014

Song Honglin, Cicek Mine S, Dicks Ed, Harrington Patricia, Ramus Susan J, Cunningham Julie M, Fridley Brooke L, Tyrer Jonathan P, Alsop Jennifer, Jimenez-Linan Mercedes, Gayther Simon A, Goode Ellen L, Pharoah Paul D P

Abstract excerpt

The aim of this study was to estimate the contribution of deleterious mutations in BRCA1, BRCA2, MLH1, MSH2, MSH6 and PMS2 to invasive epithelial ovarian cancer (EOC) in the population. The coding sequence and splice site boundaries of all six genes were amplified in germline DNA from 2240 invasive EOC cases and 1535 controls. Barcoded fragment libraries were sequenced using the Illumina GAII or HiSeq and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24728189
DOI: 10.1093/hmg/ddu172
PMCID: PMC4119409

Genes

BRCA1
BRCA2
MSH2
MSH6
MLH1
PMS2

Provenance

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