Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population

Table 3 Haplotype estimation for five high frequency BRCA1 SNVs found in the HBOC cohort

Hp	p.Pro871Leu	p.Glu1038Gly	p.Lys1183Arg	p.Ser1613Gly	c.*421G > T	Hap.	Control	HBOC	p-value
Hp	(CCG→CTG)	(GAA→GGA)	(AAA→AGA)	(AGT→GGT)	(G → T)	freq.	(n = 136)	(n = 119)	p-value
1	Pro	Glu	Lys	Ser	G	0.546	0.533	0.563	0.532
2	Leu	Gly	Arg	Gly	T	0.248	0.292	0.199	0.020
3	Leu	Glu	Lys	Ser	G	0.136	0.129	0.143	0.633
4	Pro	Glu	Lys	Ser	T	0.028	0.017	0.038	0.172
5	Leu	Gly	Lys	Gly	T	0.028	0.017	0.038	0.172
6	Leu	Gly	Lys	Ser	T	0.008	0.007	0.007	NA
7	Leu	Gly	Lys	Gly	G	0.004	0.004	0.424	NA
8	Leu	Glu	Arg	Gly	G	0.003	0.003	0.000000002	NA
9	Leu	Gly	Arg	Gly	G	0.002	0.00000002	0.004	NA

Hp Estimated haplotypes, Hap. freq. General haplotype frequency found for all samples, Control Haplotype frequency found for the 136 elderly control samples, HBOC Haplotype frequency found for the 119 HBOC samples, p-value Haplotype score statistic p-value calculated by Haplo.stats, and considered significant when p>0.05 (in bold, the p-value considered as significant), NA When the haplotype score statistic p-value could not be calculated

ISSN: 1755-8794