Table 2.

Mutations seen in DNA damage repair genes in 12 patients (ID) of our cohort and their predicted functional significance

ID	Gene	Chromosome position	dbSNP ID	Function	Amino acid change	SIFT function prediction	PolyPhen-2 function prediction
1	BRCA1	17:41246481	rs1799950	Missense	p.Q356R; p.Q309R	Damaging	Probably damaging
2	BRCA1	17:41199716	rs80356920	Missense; Stop gain	p.C675*; p.V700D; p.V1757D; p.V1825D; p.V1804D	Tolerated	Benign
	BRCA1	17:41246481	rs1799950	Missense	p.Q356R; p.Q309R	Damaging	Probably damaging
3	BRCA1	17:41222975	rs1799967	Missense	p.M548I; p.M1673I; p.M1652I; p.M1605I	Tolerated	Benign
	BRCA2	13:32914755	rs767567428	Missense	p.T2088I	Damaging	Benign
4	BRCA2	13:32911295	rs28897716	Missense	p.D935N	Tolerated	Benign
5	BRCA1	17:41246061	rs28897677	Missense	p.R496H; p.R449H	Tolerated	Benign
6	BRCA1	17:41244429	rs4986852	Missense	p.S993N; p.S1040N	Tolerated	Benign
	BRCA2	13:32972626	rs11571833	Stop gain	p.K3326*	N/A	N/A
7	BRCA1	17:41246481	rs1799950	Missense	p.Q356R; p.Q309R	Damaging	Probably damaging
	PALB2	16:23646857	rs45494092	Stop gain	p.L337S	Tolerated	Benign
8	BRCA1	17:41222975	rs1799967	Missense	p.M548I; p.M1673I; p.M1652I; p.M1605I	Tolerated	Benign
	BRCA2	13:32912750	rs28897727	Missense	p.D1420Y	Damaging	Benign
9	BRCA2	13:32945172	rs11571747	Missense	p.E2856A	Tolerated	Probably damaging
10	PALB2	16:23646857	rs45494092	Missense	p.L337S	Tolerated	Benign
11	PALB2	16:23634293	rs45551636	Missense	p.G998E	Damaging	Probably damaging
	PALB2	16:23641461	rs45532440	Missense	p.E672Q	Tolerated	Benign
12	MSH2	2:47403319	rs17217723	Missense	Y43C	Intolerant	Probably damaging