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.

Table 2 Breast cancer susceptibility gene 2 pathogenic variants identified in patients with breast/ovarian cancer

Nucleotide change	Molecular consequence	Location	Number of patients
Breast cancer
C.9257-1G>A	Splice acceptor	Intron 24	3
C.3189_3192del	P.Ser1064fs	Exon 11	1
C.2808_2811del	P.Ala938fs	Exon 11	1
Ovarian cancer
C.9257-1G>A	Splice acceptor	Intron 24	1
C.7806-2A>T	Splice acceptor	Intron 16	1

Table 3 Genetic testing results for patients diagnosed with breast and/or ovarian cancer

Type of cancer	Affected gene	Pathogenic variant
Breast	BRCA1	6.36 (14/220)
	BRCA2	2.27 (5/220)
	BRCA1/2	8.63 (19/220)
Ovarian	BRCA1	9.09 (3/33)
	BRCA2	6.06 (2/33)
	BRCA1/2	15.15 (5/33)
Breast and ovarian	BRCA1	2/3

BRCA: Breast cancer susceptibility gene.

Table 4 Sequence mutations identified in patients with germline pathogenic variants other than breast cancer susceptibility gene 1/2 (all 3 patients were diagnosed with breast cancer)

Genes	Nucleotide change	Molecular consequence	Location	Number of patients
PALB2	C.2257C>T	P.Arg753Ter	Exon 5	1
PALB2	C.93dupA	P.Leu32fs	Exon 2	1
Tumor protein p53	C.375G>A	P.(Thr125)	Exon 4	1

PALB2: Partner and localizer of breast cancer susceptibility gene 2.

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.