Hereditary breast and ovarian cancer in Andalusian families: a genetic population study

BMC Cancer

Table 2 Novel pathogenic mutations not described in databases

Gene	Exon	HGVS cDNA Based Designation	HGVS Protein Based Designation	Mutation Type	Criteria	Breast Cancer (BC)	BC < 50	Bilateral BC	Ovarian Cancer	Other tumours	Phenotype
BRCA1	11	c.845C > A	p.Ser282Ter	NS	1, 2, 8	YES	YES	NO	YES		Triple-negative
BRCA1	11	c.1222_1223delAC	p.Thr374Ter	FSD	1, 2, 7	YES	YES	NO	YES		Unknown
BRCA1	11	c.2527delA	p.Thr843GInfs*3	FSD	1, 5	YES	YES	NO	NO	Colon, lung	Luminal
BRCA2	7	c.293 T > G	p.Leu98Ter	NS	1, 5, 7	YES	YES	YES	NO		Luminal
BRCA2	11	c.5558_5559delGT	p.Cys1853Cysfs*4	FSD	1, 5, 7	YES	YES	YES	NO	Prostate	Luminal
BRCA2	11	c.6034delT	p.Ser2012Profs*28	FSD	1, 5	YES	YES	NO	NO		Unknown
BRCA2	11	c.6650_6654delAAGAT	p.Lys2217Ilefs*6	FSD	1, 5, 7	YES	YES	YES	YES		Luminal
BRCA2	11	c.6650_6654delAAGAT	p.Lys2217Ilefs*6	FSD	1, 3, 7	YES	YES	NO	YES	Lung	Luminal
BRCA2	11	c.6652delG	p.Asp2218Ilefs*11	FSD	1, 5, 6	YES	YES	YES	NO	Prostate	Luminal

ISSN: 1471-2407