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Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences.

Hereditary cancer in clinical practice

Velthuizen ME, van der Luijt RB, de Vries BJ, Koudijs MJ, Bleiker EMA, Ausems MGEM.
PMID: 33468213
Hered Cancer Clin Pract. 2021 Jan 19;19(1):9. doi: 10.1186/s13053-021-00166-1.

BACKGROUND: CHEK2 has been recognized as a breast cancer risk gene with moderate effect. Women who have previously tested negative for a BRCA1/2 gene germline pathogenic variant may benefit from additional genetic testing for the CHEK2 c.1100del pathogenic variant....

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