Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers

Table 1 SNP-based LOH markers used in this study.

Gene	SNP^a	location	dbSNP reference ID^b
*MLH1*	c.1-93G>A	Promoter	rs1800734
	c.453+79A>G	Intron5	rs4234259
	c.655A>G [p.I219V]	Exon8	rs1799977
	c.790+955C>A	Intron9	rs1558528
	c.791-1406C>T	Intron9	rs4647269
	c.791-488A>G	Intron9	rs4647277
	c.1038+86T>C	Intron11	rs2286939
	c.1039-78A>G	Intron11	rs11129748
	c.1668-19A>G	Intron14	rs9876116
	c.1990-121C>T	Intron17	rs2241031
*MSH2*	c.1076+1681G>T	Intron6	rs10191478
	c.1077-80G>A	Intron6	rs2347794
	c.1276+1349T>A	Intron7	rs3771272
	c.1276+1394A>T	Intron7	rs3771273
	c.1277-212T>A	Intron7	rs1981928
	c.1277-118G>A	Intron7	rs1981929
	c.1386+719T>C	Intron8	rs7602094
	c.1387-914A>G	Intron8	rs6711675
	c.1511-91G>T	Intron9	rs3732182
	c.1511-9A>T	Intron9	rs12998837
	c.1661+12G>A	Intron10	rs3732183
	c.1759+107A>G	Intron11	rs3764959
	c.1759+183G>A	Intron11	rs3764960
	c.1760-1207C>T	Intron11	rs3821227
	c.2006-6T>C	Intron12	rs2303428
	c.2210+175G>A	Intron13	rs4583514
	c.2210+274T>G	Intron13	rs4608577
	c.2635-214T>C	Intron15	rs2042649

^aSNP nomenclature reflecting the recommendations of Human Genome Variation Society; ^bAccording to the dbSNP at http://www.ncbi.nlm.nih.gov/SNP/index.html. For the determination of SNP location, the cDNA sequence alignements have been performed using NCBI RefSeq NM_000249.2 with genomic contigs NT_005580.6 and NT_022517.17 for the MLH1, and NM_000251.2 with genomic contig NT_022184.14 for the MSH2 gene.

ISSN: 1471-2407