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Article

30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes.

European journal of human genetics : EJHG - 1 Apr 2022

Woodward Emma R, Green Kate, Burghel George J, Bulman Michael, Clancy Tara, Lalloo Fiona, Schlecht Helene, Wallace Andrew J, Evans D Gareth

Abstract excerpt

It is 30 years since the first diagnostic cancer predisposition gene (CPG) test in the Manchester Centre for Genomic Medicine (MCGM), providing opportunities for cancer prevention, early detection and targeted treatments in index cases and at-risk family members. Here, we present time trends (1990-2020) of identification of index cases with a germline CPG variant and numbers of subsequent cascade tests, for 15...

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Share to BRCA gene mutations in cancer
Share to Cancer Genomics and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to DNA Mismatch Repair

Share to Genes, BRCA2

Share to Genetic factors in colorectal cancer

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Source

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Identifiers

PMID: 34866136
DOI: 10.1038/s41431-021-01011-8
PMCID: PMC8645350

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