Germline TP53 mutational spectrum in French Canadians with breast cancer

BMC Medical Genetics

Table 2 Characterization of TP53 variants identified in index cases of French Canadian HBC/HBOC families

Genotype alteration	Amino acid codon alteration	Genetic location of variant	Variant genotype designation	Distribution of variant genotypes identified in French Canadian index cases ¹			Variant allele frequencies identified in French Canadian index cases (%)				General population of variant allele frequencies ² (%)		Source of general population variant allele frequencies ²
Genotype alteration	Amino acid codon alteration	Genetic location of variant	Variant genotype designation	AA	AB	BB	A	A%	B	B%	A%	B%	Source of general population variant allele frequencies ²
c.1-140G>A		intron 1	rs8079544	35	1	0	71	98.6	1	1.4	94.6	5.5	A
c.74+38C>G		intron 2	rs1642785	3	12	21	18	25.0	54	75.0	26.0	74.0	B
c.96+41_96+56del16		intron 3	rs17878362	24	11	1	59	81.9	13	18.1	79.5	20.5	B
c.97-29C>A		intron 3	rs17883323	35	1	0	71	98.6	1	1.4	94.8	5.2	B
c.108G>A	p.Pro36Pro	exon 4	rs1800370	34	2	0	70	97.2	2	2.8	98.5	1.5	B
c.215G>C	p.Arg72Pro	exon 4	rs1042522	21	12	3	54	75.0	18	25.0	78.3	21.7	A
c.376-91G>A		intron 4	rs2909430	0	7	17	7	14.6	41	85.4	9.9	90.1	A
c.639A>G	p.Arg213Arg	exon 6	rs1800372	33	3	0	69	95.8	3	4.2	98.1	1.9	B
c.672+62A>G		intron 6	rs1625895	1	9	26	11	15.3	61	84.7	10.3	89.7	A
c.673-36G>C		intron 6	rs17880604	35	1	0	71	98.6	1	1.4	98.4	1.6	B
c.782+72C>T		intron 7	rs12947788	30	6	0	66	91.7	6	8.3	-	-	-
c.782+92T>G		intron 7	rs12951053	30	6	0	66	91.7	6	8.3	92.4	7.6	A
c.993+12T>C		intron 9	rs1800899	35	1	0	71	98.6	1	1.4	98.5	1.5	B
c.1100+30A>T		intron 10	rs17880847	35	1	0	71	98.6	1	1.4	98.5	1.5	B

¹Genotypes were not available (not included) for the index case screened in the hereditary cancer clinic; ²Population based allele frequencies from Hap Map CEU (A) (http://hapmap.ncbi.nlm.nih.gov/) or Exome Variant Server - European Americans (B) (http://evs.gs.washington.edu/EVS/); Population frequency was not known for rs12947788.

ISSN: 1471-2350