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. Author manuscript; available in PMC: 2018 Oct 10.
Published in final edited form as: J Am Coll Surg. 2018 Jan 5;226(4):630–637.e1. doi: 10.1016/j.jamcollsurg.2017.12.021

eTable 1.

Mutation Detail of BRCA-Mutated Patients

Patient# Age, y Gene Chromosome position Amino acid change Nucleotide change Function
1 66 BRCA2 13:32911298–9 p.K936Kfs c.2808_2811delACAA Frameshift*
2 60 BRCA2 13:32911298–9 p.K936Kfs c.2808_2811delACAA Frameshift*
3 83 BRCA2 13:32911419 p.S976Sfs c.2928delC Frameshift*
4 63 BRCA2 13:32914401 p.S1970X c.5909C>AC Nonsense*
5 62 BRCA2 13:32914438 p.S1982Rfs c.5946delT Frameshift*
6 61 BRCA2 13:32914438 p.S1982Rfs c.5946delT Frameshift*
7 57 BRCA2 13:32914438 p.S1982Rfs c.5946delT Frameshift*
8 60 BRCA2 13:32914438 p.S1982Rfs c.5946delT Frameshift*
9 59 BRCA2 13:32932067 Splice c.7805+1G>A Noncoding*
10 65 BRCA2 13:32972626 p.K3326X c.9976A>T Nonsense*
11 65 BRCA2 13:32972626 p.K3326X c.9976A>T Nonsense*
12 76 BRCA2 13:32893421 p.Q92R c.275A>G Missense
13 68 BRCA2 13:32912190 p.A1233V c.3698C>T Missense
14 58 BRCA2 13:32911703 p.H1071Y c.3211C>T Missense
15 66 BRCA2 13:32911794 p.H1101R c.3302A>G Missense
16 54 BRCA2 13:32912586 p.C1365Y c.4094G>A Missense
17 56 BRCA2 13:32915133 p.T2214I c.6641C>T Missense
18 49 BRCA2 13:32931943 p.Q2561R c.7682A>G Missense
19 50 BRCA1 17:41243887 p.E1221X c.3661C>A Nonsense*
20 58 BRCA1 17:41276034 fs c.70_80delCAGATGGGACA Frameshift*
21 61 BRCA1 17:41245975 p.V525I c.1573C>T Missense
22 57 BRCA1 17:41245975 p.V525I c.1573C>T Missense
*

Known pathogenic variant.

Variant with unknown significance (VUS).