Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population

Table 1

BRCA1/2 germline variants in Chinese patients with breast cancer who had a family history of breast cancer and/or ovarian cancer ().

Gene	Transcript	Exons	Location (GRCh37)	Counts	Variant type	Nucleotide change	Effect on amino acids	References	Classification of ENIGMA^a
BRCA1	NM_007294.3	ENSE00003591784	chr17:41215910-41215910	1/70	Frameshift	c.5133del	p.(Lys1711AsnfsTer3)	BIC	Class 3
BRCA1		ENSE00003497952	chr17:41223130-41223130	1/70	Nonsense	c.4801A>T	p.(Lys1601Ter)	BIC	Class 5
BRCA1		ENSE00003791246	chr17:41228529-41228529	2/70	Missense	c.4460A>G	p.(Lys1487Arg)	BIC	Class 3
BRCA1		ENSE00003522602	chr17:41244100-41244100	1/70	Missense	c.3448C>T	p.(Pro1150Ser)	BIC	Class 3
BRCA1		ENSE00003522602	chr17:41244291-41244291	1/70	Nonsense	c.3257del	p.(Leu1086Ter)	BIC	Class 5
BRCA1		ENSE00003522602	chr17:41245587-41245587	1/70	Frameshift	c.1961del	p.(Lys654SerfsTer47)	BIC	Class 5
BRCA1		ENSE00003522602	chr17:41245847-41245848	1/70	Frameshift	c.1700dup	p.(Asn567LysfsTer3)	BIC	Class 5
BRCA1		ENSE00003522602	chr17:41246724-41246724	2/70	Missense	c.824G>A	p.(Gly275Asp)	BIC	Class 3
BRCA1		ENSE00003541068	chr17:41256140-41256140	1/70	Frameshift	c.440del	p.(Leu147CysfsTer16)	Novel	Class 3
BRCA2	NM_000059.3	ENSE00003659301	chr13:32899249-32899249	1/70	Missense	c.353G>A	p.(Arg118His)	BIC	Class 3
BRCA2		ENSE00000939168	chr13:32910452-32910452	1/70	Missense	c.1960G>A	p.(Glu654Lys)	BIC	Class 3
BRCA2		ENSE00000939168	chr13:32910963-32910963	1/70	Nonsense	c.2471T>G	p.(Leu824)	BIC	Class 5
BRCA2		ENSE00000939168	chr13:32911757-32911757	1/70	Nonsense	c.3265C>T	p.(Gln1089)	BIC	Class 5
BRCA2		ENSE00000939168	chr13:32912699-32912699	1/70	Missense	c.4207A>G	p.(Thr1403Ala)	Novel	Class 3
BRCA2		ENSE00000939168	chr13:32912799-32912799	1/70	Missense	c.4307T>C	p.(Ile1436Thr)	BIC	Class 3
BRCA2		ENSE00000939168	chr13:32914173-32914174	1/70	Nonsense	c.5681dup	p.(Tyr1894)	BIC	Class 5
BRCA2		ENSE00000939173	chr13:32929083-32929083	1/70	Missense	c.7093C>A	p.(His2365Asn)	Novel	Class 3
BRCA2		ENSE00000939173	chr13:32929140-32929140	1/70	Nonsense	c.7149T>A	p.(Tyr2383)	Novel	Class 3
BRCA2		ENSE00000939173	chr13:32929399-32929400	1/70	Frameshift	c.7409dup	p.(Thr2471Hisfs4)	BIC	Class 5
BRCA2		ENSE00000939174	chr13:32930651-32930651	1/70	Missense	c.7522G>A	p.(Gly2508Ser)	BIC	Class 3

^aThe ENIGMA classification was ascertained from BRCA exchange.