Table 3

Clinical actionability by site of loss-of-function variants in genes other than BRCA1 and BRCA2

GeneTotal no. of carriersRelatives tested (n)(carriers)Breast cancer surveillanceOvarian cancer surveillanceOther cancer surveillance
CHEK2 43 21 (9)YesNo increased riskYes; colon
PALB2 23 29 (12)YesInsufficient evidenceInsufficient evidence
ATM 25 21 (7)YesNo increased riskInsufficient evidence for PanCa/PrCa
TP53 20 12 (6)YesNo increased riskYes; multiple sites
RAD51C 10 2 (2)Insufficient evidenceYesInsufficient evidence
NBN 6 6 (3)YesInsufficient evidenceInsufficient evidence
PTEN 4 4 (1)YesNo increased riskYes; endometrium, thyroid, colon
RAD51D 4 2 (0)Insufficient evidenceYesInsufficient evidence
PMS2 4 4 (2)Insufficient evidenceLow/no increased riskYes; colon, endometrium,
MSH6 3 2 (0)Insufficient evidenceYesYes; endometrium, gastrointestinal tract
BRIP1 3 6 (1)No increased riskYesInsufficient evidence
MLH1 1 1 (0)Insufficient evidenceYesYes; endometrium, gastrointestinal tract
SDHB/C 2 1 (0)Insufficient evidenceNo increased riskYes; paragangliomas
Total 148 111 121 21 77
Out of which 65 indexOut of which 18 indexOut of which 41 index
  • Bold numbers indicate statistically significant findings.