Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and/or ovarian) cancer susceptibility genes: An international survey by the Enigma Clinical Working Group.
2018
1539Background: Advances in massively parallel sequencing technologies have made multigene panels affordable and have revolutionized genetic testing for hereditary breast and ovarian cancer. Through the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium, we conducted a survey regarding non-BRCA1/2 genes to assess international testing practices and risk management approaches for breast cancer (BC) and ovarian cancer (OC) susceptibility. Methods: Data were collected via in-person and paper/electronic surveys. ENIGMA members from around the world were invited to participate. Additional information was collected via country networks in the UK and in Italy. Results: Responses from 61 cancer genetics centers across 20 countries showed that 16 genes were tested by more than 50% of the centers, but only 6, PALB2, TP53, PTEN, CHEK2, ATM, and BRIP1, were tested regularly. US-based centers tested those genes most often, while UK and Italian centers (not directly affiliated ...
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