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Detectible mosaic truncating PPM1D mutations, age and breast cancer risk

Detectible mosaic truncating PPM1D mutations, age and breast cancer risk

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8211387

Detectible mosaic truncating PPM1D mutations, age and breast cancer risk

About this item

Full title

Detectible mosaic truncating PPM1D mutations, age and breast cancer risk

Publisher

England: Nature Publishing Group

Journal title

Journal of human genetics, 2019-06, Vol.64 (6), p.545-550

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

Mosaic protein truncating variants (PTVs) in the phosphatase, Mg2+/Mn2+dependent 1D (PPM1D) gene in blood-derived DNA have been associated with increased risk of breast cancer. We analyzed PPM1D PTVs in blood from 3817 breast cancer cases and 3058 controls by deep sequencing of a previously defined region in exon 6 of PPM1D. We identified 50 of 687...

Alternative Titles

Full title

Detectible mosaic truncating PPM1D mutations, age and breast cancer risk

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8211387

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8211387

Other Identifiers

ISSN

1434-5161

E-ISSN

1435-232X

DOI

10.1038/s10038-019-0589-1

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