4411 - What are Microsatellites? D2S123...

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What are Microsatellites? D2S123 TAGGCCA CACACACACACACA Unique Primer • Mono, di, tri, tetra nucleotide repeats • HNPCC - Expansion/contraction of nl repeats
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Strand Slippage D2S123 TAGGCCA CACACACACACACA Unique Primer 14 bp 12 bp TAGGCCA CACACACACACACA 13-15 BP 4-40 RPTS
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Mis-Match Repair Genes hMSH2 • hMLH1 • PMS1 • PMS2 • hMSH3 • hMSH6
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Risk of CRC in Clinical HNPCC Families: Netherlands Age 44 69 Location pr: 53% pr: 32% ds: 41% ds: 68% CI 35 10% .07% CI 50 24% .5% CI 75 42% 5.3% HNPCC Voskuil, Int J CA 1997;72:205 Sporadic
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Risk of CRC in MSH2/MLH1 HNPCC Families: Netherlands CRC Lifetime 80 Women 83 Men 92 Endometrial 50 % Vasen, Gastro 1996;110:1020
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HNPCC • ~ 90% of tumors show MI • Germline defect in MMR genes • 2nd Hit - Somatic Mutation
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MSI in Sporadic CRC 10 - 15% of sporadic CRC In HNPCC: Germline + somatic = MSI Sporadic - biallelic somatic mutation via methylation of MLH1 promoter
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TC = Transcription Complex Click for larger picture
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Gene Testing for hMLH1 or hMSH2 • DGGE • SSCP • IVSP • Direct Sequencing
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4411 - What are Microsatellites? D2S123...

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