. 2019 Apr 9;7(6):e677. doi: 10.1002/mgg3.677

Table 1.

Distribution of BRCA1 * mutations in 216 patients with high‐risk breast cancer

Patient ID	Nucleotide change	Exon	Amino acid change	Mutation type	Pathogenicity	BIC	ClinVar	Age at diagnosis (years)	Cancer family history	Triple‐negative breast cancer
091A	c.123_124delCAinsAT	1	p.His41_Ile42delinsGlnLeu	Missense	Likely pathogenic	No	No	44	Mother lung cancer	Yes
042A	c.1934delC	11	p.Ser645Leufs*6	Missense	Pathogenic	No	No	39	No	Yes
219A	c.2054delinsGAAGAGTAACAAGTAAGAAGAGTAACAAGAAG	11	p.Asn685Argfs*12	Missense	Pathogenic	No	No	38	No	No
036A	c.2138C>G	11	p.Ser713Ter	Nonsense	Pathogenic	Yes	Yes	44	No	No
082A	c.2572C>T	11	p.Gln858Ter	Nonsense	Pathogenic	No	Yes	45	Mother breast cancer and colorectal cancer	Yes
079A	c.2751delC	11	p.Lys918Serfs*82	Missense	Pathogenic	No	Yes	31	Aunt endometrial cancer	Yes
198A	c.3841C>T	11	p.Gln1281Ter	Nonsense	Pathogenic	Yes	Yes	39	No	Yes
139A	c.3916_3917delTT	12	p.Leu1306Aspfs*23	Missense	Pathogenic	Yes	Yes	29	Aunt ovarian cancer; uncle stomach cancer; cousin thyroid cancer	No
196A	c.5093_5096delCTAA	—	p.Thr1698Ilefs*2	Missense	Pathogenic	No	No	33	Mother and aunts breast cancer; grandfather stomach cancer	No
054A	c.5194−2A>G	—	—	Splice site	Pathogenic/Likely pathogenic	Yes	Yes	42	Mother ovarian cancer	Yes
202A	c.5396−2A>G	—	—	Splice site	Likely pathogenic	No	No	37	No	Yes

BIC: breast cancer information core.