Table 2

Proportion of women with VYOC with heterozygous PVs in BRCA1/2 and MMRD genes

GeneFemale carriers (n)OC <30 (%)ORP valueOC 30–34 (%)ORP value
BRCA1 20051 (0.05)0.050.0036 (0.30)0.230.02
BRCA2 19990 (0.00)NA0.0073 (0.15)0.120.004
MSH2 3934 (1.02)RefNA5 (1.29)RefNA
MLH1 2780 (0.00)NANA0 (0.00)NA0.013
MSH6 1690 (0.00)NANA0 (0.00)NA0.06
PMS2 701 (1.43)NANA0 (0.00)NA0.36
  • MMRD, mismatch repair deficiency; NA, Not Applicable; OC, ovarian cancer; PV, pathogenic variant; Ref, reference population; VYOC, very young onset ovarian cancer.