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Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing

Scientific Reports

Dec 8, 2019

Mev Dominguez-ValentinEivind Hovig

Abstract

We have surveyed 191 prospectively sampled familial cancer patients with no previously detected pathogenic variant in the BRCA1/2, PTEN, TP53 or DNA mismatch repair genes. In all, 138 breast cancer (BC) cases, 34 colorectal cancer (CRC) and 19 multiple early-onset cancers were included....read more

Mentioned in this Paper

CHEK2 gene
PTEN protein, human
Colorectal Cancer
MSH6 protein, human
Mice, Inbred BALB C
A/G-Specific Adenine DNA Glycosylase
RNA Splicing
Study
BRCA1 gene
BRCA2 protein, human
13
1
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Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing

Scientific Reports

Dec 8, 2019

Mev Dominguez-ValentinEivind Hovig

PMID: 31811167

DOI: 10.1038/s41598-019-54517-z

Abstract

We have surveyed 191 prospectively sampled familial cancer patients with no previously detected pathogenic variant in the BRCA1/2, PTEN, TP53 or DNA mismatch repair genes. In all, 138 breast cancer (BC) cases, 34 colorectal cancer (CRC) and 19 multiple early-onset cancers were included....read more

Mentioned in this Paper

CHEK2 gene
PTEN protein, human
Colorectal Cancer
MSH6 protein, human
Mice, Inbred BALB C
A/G-Specific Adenine DNA Glycosylase
RNA Splicing
Study
BRCA1 gene
BRCA2 protein, human
13
1

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