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Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer.

Familial cancer - 1 Jul 2020

Nguyen-Dumont Tu, Steen Jason A, Winship Ingrid, Park Daniel J, Pope Bernard J, Hammet Fleur, Mahmoodi Maryam, Tsimiklis Helen, Theys Derrick, Clendenning Mark, Giles Graham G, Hopper John L, Southey Melissa C

Abstract excerpt

The advent of gene panel testing is challenging the previous practice of using clinically defined cancer family syndromes to inform single-gene genetic screening. Individual and family cancer histories that would have previously indicated testing of a single gene or a small number of related genes are now, increasingly, leading to screening across gene panels that contain larger numbers of genes. We have applied...

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PMID: 32060697
DOI: 10.1007/s10689-020-00164-7

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