Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400

Conclusion PGVs in BRCA1 are associated with G3_TNBCs. Familial TNBCs and isolated TNBCs <30 years have a >10% likelihood of a PGV in BRCA1. BRCA1_PGVs are associated with younger age of familial TNBC. There was no evidence for any increased risk of TNBC with CHEK2 or ATM PGVs.

http://jmg.bmj.com/cgi/content/short/61/4/385?rss=1

Source: Journal of Medical Genetics - March 21, 2024 Category: Genetics & Stem Cells Authors: Woodward, E. R., Lalloo, F., Forde, C., Pugh, S., Burghel, G. J., Schlecht, H., Harkness, E. F., Howell, A., Howell, S. J., Gandhi, A., Evans, D. G. Tags: Cancer genetics Source Type: research