2

Mutational profile of the patients with germline and somatic mutations in BRCA1/2

Patient numberGenderAge (years)Somatic mutationsGermline mutations
GeneMutation typeMutationAFGeneMutation typeMutationAF
1Female48BRCA2Stop gainedc.1688G >
A (p.Trp563*)
14.93%BRCA2Stop gainedc.6952C >
T (p.Arg2318*)
46.92%
2Male64BRCA2Missensec.9065G >
C (p.Arg3022Thr)
21.20%BRCA2Stop gainedc.7718T >
G (p.Leu2573*)
50.50%
3Male70BRCA2Synonymousc.5082A >
G (p.Arg1694=)
4.73%BRCA2Stop gainedc.5080A >
T (p.Arg1694*)
54.19%
4Male65BRCA2Stop gainedc.9299T >
A (p.Leu3100*)
25.90%BRCA2Splice donorc.7805+1G >
A
59.10%
5Male68BRCA2Missensec.8026A >
T (p.Met2676Leu)
1.11%BRCA1Frameshiftc.2143_2155delinsTCTTT (p.Thr715fs)40.53%
6Male60BRCA2Splice regionc.8951C >
T (p.Ser2984Leu)
0.70%BRCA2Stop gainedc.8951C >
G (p.Ser2984*)
47.83%