Table 2. Deleterious BRCA1/2 gene mutations found in this study.

Gene	Exon/intron	Nucleotide change*	Protein change*	Mutation type	NCBI SNP ID number	No.
BRCA1	Exon6	c.390C>A	p.Tyr130Ter	Nonsense	rs80356888	1
	Exon10	c.1354delG	p.Val452Ter	Nonsense	rs886039946	1
		c.1831delC	p.Leu611Ter	Nonsense	rs397508913	1
		c.3296delC	p.Pro1099Leufs	Frameshift	rs80357815	1
		c.3627dupA	p.Glu1210Argfs	Frameshift	rs80357729	1
		c.3655G>T	p.Glu1219Ter	Nonsense	Novel	1
	Exon12	c.4253delT	p.Leu1418Ter	Nonsense	Novel	1
		c.4327C>T	p.Arg1443Ter	Nonsense	rs41293455	1
	Exon17	c.5080G>T	p.Glu1694Ter	Nonsense	rs80356896	3
	Exon23	c.5496_5506delinsA	p.Val1833Serfs	Frameshift	rs273902775
	Exon1–2	c.(?_-232)_(c.80+1_81-1)del		LGR	-	1
	Exon21–23	c.5332+558_*6809del		LGR		1
BRCA2	Exon10	c.1399A>T	p.Lys467Ter	Nonsense	rs80358427	2
	Exon11	c.3096_3110delinsT†	p.Lys1032Asnfs	Frameshift	rs397507655	1
		c.6553delG	p.Ala2185Leufs	Frameshift	rs80359603	1
		c.7480C>T	p.Arg2494Ter	Nonsense	rs80358972	2
	Exon23	c.9117G>A	p.Pro3039=	Splice site	rs28897756	1
	Exon24	c.9253delA	p.Thr3085Glnfs	Frameshift	rs397508041	1

NCBI, National Center for Biotechnology Information; SNP, single nucleotide polymorphism; HGVS, Human Genome Variation Society.

^*All variants were described according to the recommended HGVS nomenclature; ^†This variant was found in a patient with primary fallopian tube cancer.