Sarah Pugh

发表

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

E. Harkness, F. Lalloo, G. Burghel, 2023, Journal of Medical Genetics.

Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2

F. Lalloo, G. Burghel, E. Woodward, 2024, Journal of medical genetics.