Page 10 - CUA Presentation

1 in 10 Men with mCRPC have Germline Mutations

Distribution of presumed pathogenic Inherited germline DDR mutations
germline mutations

mCRPC: 11.8% (82/692)
RAD51C 1% Localized disease: 4.6% (23/499)
MSH6 1% MRE11A 1%
MSH2 1% BRIP1 1% Presumed pathogenic germline mutations
GEN1 2% FAM175A 1%
PMS2 2% in metastatic cases (N = 692)

NBN 2%
ATR 2% Gene No. of Mutations % of Men

RAD51D 4%

PALB2 4% BRCA2 37 5.35

BRCA2 44%
BRCA1 7% ATM 11 1.59

CHEK2* 10 1.87
CHEK2 12%

BRCA1 6 0.87
ATM 13%

*n = 534; data censored for metastatic cases with inadequate sequencing

DDR, DNA damage response; mCRPC, metastatic castrate resistant prostate cancer
Pritchard CC et al. NEJM 2016;375:443-53.