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. 2019 Jul 12;57(1):53–61. doi: 10.1136/jmedgenet-2019-106189

Table 3.

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

Gene Total no. of carriers Relatives tested (n)(carriers) Breast cancer surveillance Ovarian cancer surveillance Other cancer surveillance
CHEK2 43 21 (9) Yes No increased risk Yes; colon
PALB2 23 29 (12) Yes Insufficient evidence Insufficient evidence
ATM 25 21 (7) Yes No increased risk Insufficient evidence for PanCa/PrCa
TP53 20 12 (6) Yes No increased risk Yes; multiple sites
RAD51C 10 2 (2) Insufficient evidence Yes Insufficient evidence
NBN 6 6 (3) Yes Insufficient evidence Insufficient evidence
PTEN 4 4 (1) Yes No increased risk Yes; endometrium, thyroid, colon
RAD51D 4 2 (0) Insufficient evidence Yes Insufficient evidence
PMS2 4 4 (2) Insufficient evidence Low/no increased risk Yes; colon, endometrium,
MSH6 3 2 (0) Insufficient evidence Yes Yes; endometrium, gastrointestinal tract
BRIP1 3 6 (1) No increased risk Yes Insufficient evidence
MLH1 1 1 (0) Insufficient evidence Yes Yes; endometrium, gastrointestinal tract
SDHB/C 2 1 (0) Insufficient evidence No increased risk Yes; paragangliomas
Total 148 111 121 21 77
Out of which 65 index Out of which 18 index Out of which 41 index

Bold numbers indicate statistically significant findings.