Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants

Table 4 Germline pathogenic variants of BRCA2 in breast and ovarian cancer families in La Rioja

Exon	HGVS nomenclature at cDNA level	HGVS nomenclature at protein level	dbSNP	Number of families	References: articles published with the variant
3	c.262_263delCT	p.Leu88Alafs	rs276174825	1	[15, 16]
10	c.1128delT	p.Phe376LeufsTer23	rs80359263	1	[17, 18]
10	c.1363_1369delTCAGAGA	p.Glu456HisfsTer2	NM_000059.4	1	Not described
10	c.1397dupA	p.Asn466LysfsTer2	NM_000059.4	1	Not described
10	c.1586delTinsCA	p.Phe529SerfsTer2		1	[7]
11	c.2457delA	p.Asp820MetfsTer5	rs1322527832	2	[40]
11	c.2701delC	p.Ala902LeufsTer2	rs397507637	2	[4, 7, 8, 15, 17,18,19,20,21]
11	c.2808_2811delACAA	p.Lys936Glnfs	rs80359352	5	[4, 7,8,9,10, 15, 19, 38]
11	c.3264dupT	p.Gln1089SerfsTer10	rs80359380	1	[4, 7, 8, 15, 17,18,19,20,21]
11	c.3680_3681delTG	p.Leu1227GlnfsTer5	rs80359395	1	[17, 21]
11	c.3860delA	p.Asn1287Ilefs	rs80359406	1	[4, 7, 8, 15, 17,18,19,20,21]
11	c.4234_4236delACTinsC	p.Thr1412GlnfsTer10	NM_000059.4	1	Not described
11	c.5116_5119delAATA	p.Asn1706Leufs	rs276174853	2	[41, 42]
11	c.5576_5579delTTAA	p.Ile1859LysfsTer2	rs80359520	1	[4, 7, 8, 15, 17,18,19,20,21]
11	c.6024dupG	p.Gln2009AlafsTer8	rs80359554	6	[7, 37]
11	c.6275delTT	p.Leu2092ProfsTer7	rs11571658	2	[7, 8, 15, 43]
15	c.7558 C > T	p.Arg2520Ter	rs80358981	2	[4, 5]
15	c.7617 + 1G > A	--	rs397507922	2	[4, 18]
18	c.8021delA	p.Lys2674ArgfsTer2	rs397507952	1	[4]
19	c.8387delC	p.Pro2796LeufsTer25	NM_000059.4	1	Not described
20	c.8632 + 2T > G	--	rs397507998	1	[18]
23	c.9026_9030delATCAT	p.Tyr3009SerfsTer7	NM_000059.3	1	[8, 10, 15, 19,20,21,43]
24	c.9246dupG	p.Lys3083GlufsTer28	rs886038189	1	[45]
	Genomic	Rearrangements
2	Del Ex 2			1	[14]

ISSN: 1897-4287