BCoR-L1 variation and breast cancer

Breast Cancer Research

Table 3 Variation detected in the BCoR-L1 gene

Gene region	Polymerase chain reaction fragment	Nucleotide change	Amino acid change	Number of total heterozygous^a cases		Male breast cancer families		Prostate cancer families		BCoR-L1 haplotype sharing families		Number of heterozygous controls		Previously reported^b
Exon 4	4a	c.516T>C	p.N172N	2/48	4.2%	-		-		2/9	22.2%	0/101	0%	No
Exon 4	4b	c.625G>A	p.G209S	6/48	12.5%	2/29^c	6.9%	3/15	20.0%	2/9	22.2%	18/73	24.6%	Yes
Intron 5	6	c.3608-156C>T	-	2/48	4.2%	-		-		2/9	22.2%	0/99	0%	No
Intron 13	13	c.5075+21C>T	-	10/48	20.8%	5/29^c	17.2%	3/15	20.0%	2/9	22.2%	26/102	25.5%	Yes

Three samples were included in both the male breast cancer family and prostate cancer family categories because they fitted both criteria. Two samples were similarly included in both male breast cancer family and BCoR-L1 haplotype sharing family categories. ^aMales carrying a variant are homozygous. ^bReported in dbSNP or SNPper databases. ^cOne of the variant-carrying subjects possesses a mutation in BRCA2. BCoR-L1, BCL6 corepressor-like 1.

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