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Article

Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2021

Woodward Emma R, van Veen Elke M, Forde Claire, Harkness Elaine F, Byers Helen J, Ellingford Jamie M, Burghel George J, Schlech Helene, Bowers Naomi L, Wallace Andrew J, Howell Sacha J, Howell Anthony, Lalloo Fiona, Newman William G, Smith Miriam J, Gareth Evans D

Abstract excerpt

PURPOSE: To investigate the contribution of PALB2 pathogenic gene variants (PGVs, PALB2_PGV) and the CHEK2 c.1100delC (CHEK2_1100delC) PGV to familial breast and ovarian cancer, and PALB2_PGV associated breast cancer pathology. METHODS: Outcomes of germline PALB2_PGV and CHEK2_1100delC testing were recorded in 3,127 women with histologically confirmed diagnoses of invasive breast cancer, carcinoma in situ, or...

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PMID: 34113003
DOI: 10.1038/s41436-021-01234-6
PMCID: PMC8486655

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