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Table 2 Novel pathogenic mutations not described in databases

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

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