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

Table 1 Breast cancer susceptibility gene 1 pathogenic variants identified in patients with breast and/or ovarian cancer

Nucleotide change	Molecular consequence	Location	Number of patients
Breast cancer
C.1039_1040del	P.Leu347fs	Exon 10	1
C.2158G>T	P.Glu720Ter	Exon 11	2
C.5431C>T	P.Gln1811Ter	Exon 22	1
C.3257T>G	P.Leu1086Ter	Exon 10	1
C.679G>T	P.Glu227Ter	Exon 9	2
C.4065_4068delTCAA	P.Asn1355fs	Exon 10	1
C.3607C>T	P.Arg1203Ter	Exon 10	2
C.4096+1G>A	Splice donor	Intron 10	1
C.66dup	P.Glu23fs	Exon 2	1
C.131G>T	P.Cys44Phe	Exon 3	1
C.224_227del	P.Glu75fs	Exon 5	1
Ovarian cancer
C.4065_4068del	P.Asn1355fs	Exon 10	1
C.2158G>T	P.Glu720Ter	Exon 11	1
C.34C>T	P.Gln12Ter	Exon 2	1
C.3381T>G1	P.Tyr1127Ter	Exon 10	1
C.2158G>T1	P.Glu720Ter	Exon 11	1

¹One patient had both breast and ovarian cancer.