New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing

Table 2 Pathogenic single nucleotide variants in BIC and ClinVar

Variant	Type	Evidence of pathogenicity	Count
BRCA1
Q563X *	Nonsense	BIC, ClinVar	8
W1782X	Nonsense	BIC, ClinVar	2
Y1563X	Nonsense	BIC, ClinVar	1
Q538X	Nonsense	BIC, ClinVar	1
E1415X	Nonsense		1
C1501X	Nonsense		1
R1699W	Missense	BIC, ClinVar	2
BRCA2
Q92X	Nonsense	BIC, ClinVar	1
c.9118-2A > G	IVS	BIC, ClinVar	3
P3039P	Splice	BIC, ClinVar	1
Q3047X	Nonsense		1
N3124I	Missense	ClinVar, Condel	6
I2627F	Missense	ClinVar, Condel	1
c.8754 + 5G > T	IVS	ClinVar	2

* Patients with ovarian and breast cancer.
IVS intronic variant near splice site; Splice variant in the splice region of exon.

ISSN: 1755-8794