Germline pathogenic variants among high hereditary risk patients with breast and ovarian cancer and unaffected subjects in Lebanese Arab women

Table 5 Sequence pathogenic variants identified in non-affected subjects with deleterious breast cancer susceptibility gene 1 and breast cancer susceptibility gene 2 variants

Nucleotide change	Molecular consequence	Location	Number of unaffected subjects
BRCA1
C.2158G>T	P.Glu720Ter	Exon 11	3
C.3555del	P.Glu1185fs	Exon 10	3
C.34C>T	P.Gln12Ter	Exon 2	2
C.131G>T	P.Cys44Phe	Exon 3	2
C.679G>T	P.Glu227Ter	Exon 9	1
C.4065_4068del	P.Asn1355fs	Exon 10	1
C.3679C>T1	P.Gln1227Ter	Exon 9	1
BRCA2
C.4342_4343del	P.Asn1448fs	Exon 11	2
C.9257-1G>A	Splice acceptor	Intron 24	1
C.5804del	P.Asn1935fs	Exon 11	1

¹Unknown personal or family history of cancer.

BRCA: Breast cancer susceptibility gene.