Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia

Table 2 Pathogenic BRCA1/BRCA2 mutations identified in breast/ovarian cancer patients

Gene	DNA change	Protein change	Total read depth	Variant read frequency	BIC, ClinVar	Class	Tumor site	Age	Fq
BRCA1	c.4067-4071 delAAGAA	GLn1356Argfs*8	798	0.5293	NR	5	Bil BC	30	1
	c.5030_5033delCTAA	Thr1677Ilefs*2	1609	0.5320	R	6	BC, OC, BC/OC	38,39,40	3
	c.296_297delTG	Leu99*	429	0.4779	NR	–	BC	43	1
	c.2338C > T	Gln780*	626	0.5064	R	5	OC, OC	46,48	2
	c.3254delG	Arg1085Asnfs*2	796	0.4950	NR	5	BC	33	1
	c.3364_3370 dupACAGATT	Phe1124Tyrfs*11	421	0.4676	NR	–	BC	40	1
	c.4041_4042delAG	Gly1348Asnfs*7	925	0.4941	R	4	BC	40	1
BRCA2	c.17-20 delAAGA	Lys6Argfs*17	1238	0.4651	NR	5	BC	39	2
	c.1310-1313 delAAGA	Lys437Ilefs*22	2206	0.4955	R	5	BC	57,42, 27,58	4
	c.1976_1800 delCTTAT	Ser599*	2476	0.5202	R	4	BC	37	1
	c.2095C > T	Gln699*	709	0.5162	NR	5	BC	43	1
	c.9097delA	Thr3033Leufs*28	1614	0.5165	R	5	BC	63	1
	c.632-1G > A	–	826	0.5133	R	2	BC	27,57	2

BC: Breast cancer; OC: ovarian cancer; Bil BC: bilateral breast vancer; Fq: frequency of the identified mutation in BRCA+ patients; R: reported; NR: not Reported

ISSN: 1479-5876