Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil

Cotrim, Deborah Porto; Ribeiro, Adriana Regina Gonçalves; Paixão, Daniele; de Queiroz Soares, Diogo Cordeiro; Jbili, Rima; Pandolfi, Natasha Carvalho; Cezana, Camila; de Cássia Mauro, Carine; Mantoan, Henrique; Bovolim, Graziele; de Brot, Louise; Torrezan, Giovana Tardin; Carraro, Dirce Maria; Baiocchi, Glauco; da Cruz Formiga, Maria Nirvana; da Costa, Alexandre A. B. A.

doi:10.1186/s12885-018-5235-3

Table 2 Description of BRCA1 and BRCA2 variants and clinical and pathological characteristics

From: Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil

ID	HGVS cDNA	HGVS protein	ACMG Classification	Variant Type	Age Ranges	Histology	FIGO stage	Family History^a
BRCA1
1	c.4153_4154delCT	p.Leu1385llefs^*5	LP	F	40-49	S	IIIC	+
2	c.5074 + 2 T > C	p.?	P	Ss	60–69	LGSC	IIIC	+
3	c.211A > G	p.Arg71Gly	P	M	40–49	S	IIIC	+
4	C.4484G > T	p.Argt1495Met	P	M	40–49	E	IIIC	+
5	c.1612C > T	p.Gln538Ter	P	N	60–69	S	IV	+
6	c.3331_3334delCAAG	p.Gln1111Asnfs^*5	P	F	40-49	S	IIIC	+
7	c.3331_3334delCAAG	p.Gln1111Asnfs^*5	P	F	30-39	S	IIIC	+
8	c.3331_3334delCAAG	p.Gln1111Asnfs^*5	P	F	50-59	S	IIIC	+
9	c.5266dup	p.Gln1756Profs^*74	P	F	60-69	S	IV	–
10	c.5266dup	p.Gln1756Profs^*74	P	F	70-79	S	IV	+
11	c.5266dup	p.Gln1756Profs^*74	P	F	40-49	S	IIIC	+
12	c.5266dup	p.Gln1756Profs^*74	P	F	50-59	UC	IIIC	–
13	c.5266dup	p.Gln1756Profs^*74	P	F	40-49	S	IIIC	+
14	c.1687C > T	p.Gln563Ter	P	N	50–59	S	IV	–
15	c.67_75delGAGTGTCCC	p.Glu23_Pro25del	LP	Indel	60–69	S	IIIC	–
16	c.4117G > T	p.Glu1373Ter	P	N	40–49	UC	IIB	–
17	c.3477_3480delAAAG	p.Ile1159Metfs	P	F	50–59	S	IIIC	+
18	c.188 T > A	p.Leu63Ter	P	N	40–49	S	IV	+
19	c.1961delA	p.Lys654Serfs^*47	P	F	60-69	S	IIIC	+
20	c.3270_3273delACCT	p.Pro1091Argfs^*17	LP	F	40-49	S	IIIB	–
21	c.798_799delTT	p.Ser267Lysfs^*19	P	F	50-59	S	IIIC	+
22	c.2368A > G	p.Thr790Ala	LB	M	30–39	LGSC	IIIC	–
23	c.5558A > G	p.Tyr1853Cys	US	M	50–59	S	IIIC	+
24	c.533 T > C	p.Val178Ala	US	M	30–39	E	IIIC	–
25	c.2077_2078insTA	p.Asp693Valfs^*9	P	F	40-49	S	IV	+
26	c.1067A > G	p.Gln356Arg	B	M	60–69	S	IIIC	–
27	c.5123C > A	p.Ala1708Glu	P	M	40–49	S	IIIC	+
28	c.1066C > T	p.Gln356Ter	P	N	50–59	S	IV	–
29	c.4964C > T	p.Ser1655Phe	US	M	40–49	E	IIIC	+
30	c. 211A > G	p.Arg71Gly	P	M	40–49	S	IIIC	+
31	del exon 16	p?	P	D	40–49	S	IIIC	–
32	c.547 + 2 T > A	p?	P	Ss	50–59	S	IV	–
BRCA2
33	c.4129A > G	p.Asn1377Asp	US	M	30–39	S	IIIC	–
34	c.8488-1G > A	p.?	P	Ss	50–59	S	IIIC	–
35	c.794-22C > T	p.?	LB	Ss	30–39	S	IIIC	–
36	c.7601C > T	p.Ala2534Val	LB	M	60–69	CC	IV	+
37	c.323A > G	p.Asn108Ser	US	M	70–79	S	IIIC
38	c.6491_6494delAGTT	p.Gln2164Argfs^*3	P	F	50–59	CS	IIIC	+
39	c.3680_3681delTG	p.Leu1227Glnfs^*5	P	F	60-69	S	IIIC	–
40	c.8878C > T	p.Gln2960Ter	P	N	50–59	S	IIIC	+
41	c.6656C > G	p.Ser2219Ter	P	N	50–59	S	IIIC	–
42	c.1792A > G	p.Thr598Ala	LB	M	40–49	S	IC	–
43	c.4928 T > C	p.Val1643Ala	LB	M	80–89	S	IIIC	–
44	c.738delT	p.Phe246Leufs^*5	LP	F	40-49	S	IV	–
45	c.9101A > G	p.Gln3034Arg	US	M	80–89	S	IV	+

P Pathogenic variant, LP Likely pathogenic variant, US Variant of uncertain significance, LB Likely benign variant, B Benign variant, F Frameshift, N Non sense, M Missense, IndDel Inframe insertions or deletions, Ss Splice site, D Large deletion, S High grade serous carcinoma, E Endometrioid carcinoma, UC Undifferentiated carcinoma, CC Clear cell carcinoma, CS Carcinossarcoma, LGSC Low grade serous carcinoma
^aPositive family history if: history of breast or ovarian carcinoma in first or second degree relatives or patient with previous breast cancer

Back to article page

ISSN: 1471-2407

Contact us

Submission enquiries: bmccancer@biomedcentral.com
General enquiries: ORSupport@springernature.com

BMC Cancer

Contact us