Association of common ATMvariants with familial breast cancer in a South American population

BMC Cancer

Table 3 ATM variants found in familial breast cancer cases.

Intron/exon	Variant	HUGO (1) nomenclature	rsID (2)	Effect	Heterozygous frecuency	Heterozygous frecuency dbSNP database	Described by
4	IVS4+36insAA	c.72+36insAA	rs2066734	Unknown	46,0%	41.9% (3)	[20]
6	378T>A	c.378T>A	rs2234997	p.D126E	0,8%	8.7% (4)	[22]
17	IVS17-56G>A	c.2377-56G>A	rs672655	Unknown	46,8%	43.6% (3)	[20]
24	IVS24-9delT	c.3249-9delT	rs3218698	Unknown	20,6%	13,3% (5)	[20]
25	IVS25-12insA	c.3366-12insA	rs4987984	Unknown	49,2%	48.2% (3)	[22]
38	IVS38-15G>C	c.5320-15G>C	rs3092828	Unknown	0,8%	1.0% (6)	[22]
38	IVS38-8T>C	c.5320-8T>C	rs3092829	Unknown	8,7%	4,5% (4)	[20]
38	5557G>A	c.5557G>A	rs1801516	p.D1853N	20,6%	10,3% (5)	[20]
47	IVS47-65G>C	c.6516-65G>C	rs4988104	Unknown	1,7%	2.4% (7)	-
48	IVS48-69insATT	c.6751-69insATT	rs3212322	Unknown	49,2%	43.2% (3)	[21]

(1) HUGO: Human Genome Organization.
(2) rs numbers are from human single nucleotide polimorphisms database (dbSNP) http://www.ncbi.nlm.nih.gov/SNP
(3) Estimated frequency in NCBI:NIHPDR sample (90 individuals from North American population). http://www.ncbi.nlm.nih.gov/SNP/snp_ss.cgi?ss=ss4479871.
(4) Estimated frequency in SNP500CANCER:HISP1 sample (23 individuals from Hispanic population). http://www.ncbi.nlm.nih.gov/SNP/snp_viewTable.cgi?pop=777.
(5) Estimated frequency in NIHPDR sample (450 unselected for ethnicity) http://www.ncbi.nlm.nih.gov/SNP/snp_viewTable.cgi?pop=506.
(6) Estimated frequency in OEFNER:autosome sample (97 individual unselected for ethnicity). http://www.ncbi.nlm.nih.gov/SNP/snp_viewTable.cgi?pop=527.
(7) Estimated frequency in EGP_SNPS:PDR90 sample (90 individual unselected for ethnicity). http://www.ncbi.nlm.nih.gov/SNP/snp_viewTable.cgi?pop=693.

ISSN: 1471-2407