PMID: 18300948

Vaclavikova R, Nordgard SH, Alnaes GI, Hubackova M, Kubala E, Kodet R, Mrhalova M, Novotny J, Gut I, Kristensen VN, Soucek P
Single nucleotide polymorphisms in the multidrug resistance gene 1 (ABCB1): effects on its expression and clinicopathological characteristics in breast cancer patients.
Pharmacogenet Genomics. 2008 Mar;18(3):263-73., [PubMed]
Sentences
No. Mutations Sentence Comment
79 ABCB1 p.Ser400Asn
X
ABCB1 p.Ser400Asn 18300948:79:83
status: NEW
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ABCB1 p.Asn21Asp
X
ABCB1 p.Asn21Asp 18300948:79:52
status: NEW
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Six SNPs in ABCB1 [( - 1)G > A, rs2214102; 61A > G, Asn21Asp, rs9282564; 1199G> A, Ser400Asn, rs2229109; 1236C> T, Gly412Gly, rs1128503; ( + 44)C > T, rs2032588 and 3435C > T, Ile1145Ile, rs1045642] were detected on the NanoChip Molecular Biology Workstation (Nanogen Inc.). Login to comment
154 ABCB1 p.Ser400Asn
X
ABCB1 p.Ser400Asn 18300948:154:492
status: NEW
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ABCB1 p.Asn21Asp
X
ABCB1 p.Asn21Asp 18300948:154:379
status: NEW
view ABCB1 p.Asn21Asp details
Age, menopausal status, staging, tumor size, nodal status and histological type and grade of tumor did not significantly associate either with frequencies of Table 3 Distribution of ABCB1 genotypes and allele frequencies in breast cancer patients ABCB1 genotypea Nb Allele frequency ( - 1)G > A, rs2214102 G/G 77 (88.5) G (93.1) G/A 8 (9.2) A (6.9) A/A 2 (2.3) Total 87 61A > G, Asn21Asp, rs9282564 Asn/Asn 75 (84.3) Asn (91.6) Asn/Asp 13 (14.6) Asp (8.4) Asp/Asp 1 (1.1) Total 89 1199G > A, Ser400Asn, rs2229109 Ser/Ser 86 (95.6 Ser (97.8) Ser/Asn 4 (4.4) Asn (2.2) Asn/Asn 0 (0) Total 90 1236C > T, Gly412Gly, rs1128503 C/C 32 (35.6) C (61.7) C/T 47 (52.2) T (38.3) T/T 11 (12.2) Total 90 12( + 44)C > T, rs2032588 C/C 79 (89.8) C (93.8) C/T 7 (8.0) T (6.2) T/T 2 (2.2) Total 88 3435C > T, Ile1145Ile, rs1045642 C/C 17 (19.5) C (46.0) T/C 46 (52.9) T (54.0) T/T 24 (27.6) Total 87 a Protein positions are displayed for nonsynonymous single nucleotide polymorphisms (SNPs) in exons. Login to comment