ABCB1 p.Ala677Val
| Predicted by SNAP2: | C: N (78%), D: N (82%), E: N (87%), F: N (78%), G: N (87%), H: N (87%), I: N (87%), K: N (93%), L: N (87%), M: N (93%), N: N (87%), P: N (82%), Q: N (93%), R: N (87%), S: N (93%), T: N (93%), V: N (93%), W: N (72%), Y: N (93%), |
| Predicted by PROVEAN: | C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] BRCA1 and XRCC1 polymorphisms associated with surv... Cancer Sci. 2010 May;101(5):1247-54. Epub 2010 Mar 12. Shim HJ, Yun JY, Hwang JE, Bae WK, Cho SH, Lee JH, Kim HN, Shin MH, Kweon SS, Lee JH, Kim HJ, Chung IJ
BRCA1 and XRCC1 polymorphisms associated with survival in advanced gastric cancer treated with taxane and cisplatin.
Cancer Sci. 2010 May;101(5):1247-54. Epub 2010 Mar 12., [PMID:20331623]
Abstract [show]
This study evaluated the influence of genetic polymorphism influencing drug metabolism on survival in taxane- and cisplatin-treated advanced gastric cancer (AGC). Peripheral blood samples from 207 AGC patients treated with first-line chemotherapy of taxane and cisplatin were used. We investigated polymorphisms that influenced the metabolism of taxane (ATP-binding cassette transporter B1 (ABCB1)), cisplatin (glutathione S-transferase M1 (GSTM1), glutathione S-transferase P1 (GSTP1), glutathione S-transferase T1 (GSTT1), excision repair cross complementing 1 (ERCC1), X-ray Cross Complementing group 3 (XRCC3), X-ray Cross Complementing group 4 (XRCC4), X-ray Cross Complementing group 1 (XRCC1), breast cancer (BRCA1)), and 5-fluorouracil (methylene tetrahydrofolate reductase (MTHFR), thymidylate synthase (TYMS)). A total of 207 patients were enrolled between May 2004 and Dec 2008, and 200 patients were analyzed. The overall response rate was 38.5%. Time to progression and overall survival time were 4.3 +/- 0.19 months and 11.9 +/- 1.05 months, respectively. There was no significant association between genetic polymorphism and response rate. However, the BRCA1 mutant TT homozygote was associated with significant prolongation of overall survival (hazard ratio [HR] = 0.43; 95% confidence interval [CI], 0.20-0.92; P = 0.03) and progression-free survival (HR = 0.51; 95% CI, 0.26-1.00; P = 0.05). Also, the XRCC1 194 CT genotype was associated with inferior overall survival, relative to the XRCC1 194 CC homozygotes (HR = 1.49; 95% CI, 0.11-2.07; P = 0.018).These findings suggest that BRCA1 TT and XRCC1 194 CT genotypes could be modest prognostic markers of AGC response in taxane- and cisplatin-treated patients.
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No. Sentence Comment
56 Polymorphism primer sequences and method of study Genotype Primer and probe Polymorphism Method Reference GSTM1 F: GAGACAGAAGAGGAGAAGATTC R: GCCCAGCTGCATATGGTTGT Null TaqMan RQ (19) GST T1 F: CTTCCAGGAGGCCCATGAG R: CAGGGCATCAGCTTCTGCTT Null TaqMan RQ (19) GSTP1 F: TGGTGGACATGGTGAATGAC R: TGCAGATGCTCACATAGTTGG A / G, Val105Ile HRM ERCC1 F: TTGTCCAGGTGGATGTGGTA R: CCTCGCTGAGGTTTTAGCTG A / C, Intron 5 HRM XRCC3 F: CCATTCCGCTGTGAATTTG R: GAAGGCACTGCTCAGCTCAC C / T, Thr241Met HRM XRCC4 F: AGGCCTGATTCTTCACTACCTG R: GGCTGCTGTTTCTCAGAGTTTC G / T, Ser307Ser HRM XRCC1 F: ATAATACTGACCTTGCGGGACC R: Biotin-ACCCACGAGTCTAGGTCTCAA S: CTGAGGCCGGGGGCT C / T, Arg194Trp PYRO XRCC1 F: TCTCCCTTGGTCTCCAACCT R: AGTAGTCTGCTGGCTCTGG G / A, Arg399Gln RFLP: HpaII (20) BRCA1 F: CCACAGTCGGGAAACAAGCATAGA R: CTTCTGCATTTCCTGGATTTGAAACC C / T, Pro871Leu RFLP: HpaII (21) MTHFR F:CTTTGAGGCTGACCTGAAGC R:TCACAAAGCGGAAGAATGTG C / T, Ala677Val TaqMan RQ TYMS 6 bp F: CAA ATC TGA GGG AGC TGA GT R: CAG ATA AGT GGC AGT ACA GA` Insertion / deletion (3-UTR) EP (22) TYMS 2R3R F: GTG GCT CCT GCG TTT CCC CC R: CCA AGC TTG GCT CCG AGC CGG CCA CAG GCA TGG CGC GG Two or three 28-bp repeats (5-UTR) EP (23) ABCB1 1236 F: TCTTTGTCAC TTTATCCAGC R: TCTCACCATC CCCTCTGT T / C, Gly412Gly RFLP: EcoO191I (24) ABCB1 2677 F: TGCAGGCTATAGGTTCCAGG R: TTTAGTTTGACTCACCTTCCCG G / T / A, Ser893 Thr / Ala RFLP: Ban1, Rsa1 (24) ABCB1 3435 F: TGCTGGTCCTGAAGTTGATCTGTGAAC R: ACATAGGCAGTGACTCGATGAAGGCA C / T, Ile1145 Ile RFLP: Mbo1 (25) EP, electrophoresis on a 6% polyacrylamide gel; HRM, high resolution melter; PSQ, pyrosequencing; RFLP, restriction fragment length polymorphism; TaqMan RQ, TaqMan allelic discrimination assay.
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ABCB1 p.Ala677Val 20331623:56:908
status: NEW