Table 1.

Pathogenic and likely pathogenic germline mutations in our cohort (n = 28)

ID	Gene	Chr	Start	End	Ref.	Alt.	NC change	AA change	Mutation type
1	BRCA2	13	32944609	32944610		AAAA	c.8402_8403insAAAA	p.F2801Lfs*	Frameshift ins
2	BRCA2	13	32914137	32914137	C	A	c.5645C>A	p.S1882*	nonsense
3	BRCA2	13	32971034	32971034	G	T	c.9502‐1G>T	p.X3168_splice	Splice
4	BRCA2	13	32914174	32914174	C	G	c.5682C>G	p.Y1894*	nonsense
5	BRCA2	13	32900690	32900691		AT	c.571_572insAT	p.M192Ifs*	Frameshift ins
6	BRCA2	13	32914174	32914174	C	G	c.5682C>G	p.Y1894*	nonsense
7	BRCA2	13	32944692	32944692	C	T	c.8485C>T	p.Q2829*	nonsense
8	BRCA2	13	32912902	32912905	AAGA		c.4410_4413delAAGA	p. K1472Tfs*6	Frameshift del
9	BRCA2	13	32914066	32914069	AATT		c.5574_5577delAATT	p. I1859Kfs*3	Frameshift del
10	BRCA2	13	32911145	32911148	GACA		c.2653_2656delGACA	p. D885Mfs*9	Frameshift del
11	BRCA2	13	32911337	32911337	T		c.2845delT	p.Y949Mfs*11	Frameshift del
12	ATM	11	108236104	108236104	C	T	c.9040C>T	p.Q3014*	nonsense
13	ATM	11	108121756	108121756	G	T	c.1564G>T	p.E522*	nonsense
7	MSH6	2	48033792	48033795	TAAC		c.4001+2delTAAC	p.X1334_splice	Splice
14	MSH6	2	48033792	48033795	TAAC		c.4001+2delTAAC	p.X1334_splice	Splice
15	BRCA2	13	32930649	32930652	CAGG		c.7520_7523delCAGG	p.G2508Vfs*15	Frameshift del
16	BRCA2	13	32914356	32914356	C	G	c.C5864G	p.S1955*	nonsense
17	CHEK2	22	29130450	29130464	TCCTCAGG TTCTTGG		c.246_260delTCCT CAGGTTCTTGG	p.D82_E86del	Inframeshift del
18	ERCC3	2	128030510	128030511	CT		c.1757_1758delCT	p.Q586Rfs*17	Frameshift del
19	FANCA	16	89874714	89874715		CACAATGCCT TGCAGGCTAC	c.583_584insCACAAT GCCTTGCAGGCTAC	E195Gfs*57	Frameshift ins
20	GEN1	2	17955667	17955667	C	T	c.C1201T	p.R401*	nonsense
21	GEN1	2	17955667	17955667	C	T	c.C1201T	p.R401*	nonsense
22	MSH2	2	47702205	47702205	C	T	c.C1801T	p.Q601*	nonsense
23	BRCA2	13	32914174	32914174	C	G	c.5682C>G	p.Y1894*	nonsense
24	BRCA2	13	32914127	32914130	GAGA		c.5638_5641delGAGA	p.E1879Ifs*29	Frameshift del
25	BRCA2	13	32968969	32968969	G		c.9401delG	p.G3134Afs*29	Frameshift del
26	BRCA2	13	32911681	32911684	GTCA		c.3192_3195delGTCA	p.S1064Lfs*12	Frameshift del
27	PALB2	16	23646807	23646807	A		c.1059delA	p.S354Lfs*2	Frameshift del
28	PALB2	16	23652432	23652432	T		c.47delT	p.K16Sfs*2	Frameshift del

Abbreviations: AA, amino acid; Alt., alternative base(s); Chr, chromosome; ID, identifier; NC, nucleotide; Ref = reference base(s).