A specific haplotype of single nucleotide polymorphisms on chromosome 19q13.2-3 encompassing the gene RAI is indicative of post-menopausal breast cancer before age 55

Nexø, Bjørn A.; Vogel, Ulla; Olsen, Anja; Ketelsen, Tina; Bukowy, Zuzanna; Thomsen, Birthe Lykke; Wallin, Håkan; Overvad, Kim; Tjønneland, Anne

doi:10.1093/carcin/bgg043

Cited by 77 publications

(82 citation statements)

References 17 publications

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“…This exceptional type of gene overlap was conserved in mouse and even in the yeast ERCC1 homolog, RAD10, suggesting an important biologic function of this region (19q13.2-q13.3). Besides, haplotypes in this region have been found associated with increased cancer risk [61][62][63][64][65]. Although we have found an association between MPM and a XRCC1 haplotype and a cumulative of XRCC1 and ERCC1 variants, we have not observed an association with ERCC1 haplotypes.…”

Section: Discussioncontrasting

confidence: 81%

XRCC1 and ERCC1 variants modify malignant mesothelioma risk: A case–control study

Betti

Ferrante

Padoan

et al. 2011

Mutation Research/Fundamental and Molecular Mechanisms of Mutag

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Section: Discussioncontrasting

confidence: 81%

XRCC1 and ERCC1 variants modify malignant mesothelioma risk: A case–control study

Betti

Ferrante

Padoan

et al. 2011

Mutation Research/Fundamental and Molecular Mechanisms of Mutag

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“…12 The variant A-allele has been associated with increased risks of basal cell carcinoma, breast cancer and lung cancer. [13][14][15] PPP1R13L (protein phosphate 1, regulatory (inhibitory) subunit 13 like, also named RAI or iASPP) encodes an inhibitor of the RelA subunit of NF-κB. 16 It is, therefore, possible that polymorphisms affecting the activity of PPP1R13L could influence the activity of NK-κB.…”

Section: Introductionmentioning

confidence: 99%

A polymorphism in NFKB1 is associated with improved effect of interferon- maintenance treatment of patients with multiple myeloma after high-dose treatment with stem cell support

Vangsted

Klausen²,

Gimsing³

et al. 2009

Haematologica

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BackgroundMaintenance therapy with interferon-α after high-dose treatment with stem cell support in multiple myeloma has been intensively debated. In this study, we evaluated the response to treatment with interferon-α in relation to genetic variation in genes related to inflammation. Design and MethodsIn a retrospective study of 296 patients with multiple myelom undergoing high-dose therapy between 1994 and 2004, 146 patients were treated with interferon-α as maintenance therapy. We tested the polymorphisms IL1B T-31C, IL6 G-174C, NFKB1-94ins/delATTG, CD3EAP G-21A and PPP1R13L IVS1 A4364G for associations with time to treatment failure and overall survival with and without interferon-α treatment. ResultsThe wild type ins-allele of polymorphism NFKB1-94 ins/delATTG was, by multivariate Cox analysis, associated with longer time to treatment failure (p=0.01) and overall survival (p=0.0084) when tested between treatment arms and in the subgroup of patients treated with interferon-α the wild type ins-allele was associated with longer overall survival (p=0.002). In the absence of interferon-α treatment, there was no association between the polymorphisms and treatment outcome, except for patients homozygous for the wild type G allele of IL6 G-174C who survived longer (p= 0.0074) than variant allele carriers. There was no association between the polymorphisms IL1B T-31C, CD3EAP G-21A and PPP1R13L IVS1 A4364G and treatment outcome for interferon-α. ConclusionsPatients who are homozygous carriers of the wild type ins-allele of the NFKB1 -94ins/delATTG polymorphism may benefit from treatment with interferon-α, in contrast to patients carrying the variant allele. This result may indicate that the effect of interferon-α treatment is dependent on the availability of nuclear factor-κB and the polymorphism in NFKB1 may, therefore, be a good prognostic marker for multiple myeloma patients on maintenance treatment with interferon-α after high-dose therapy. A prospective study of interferon-α treatment in relation to NFKB1 -94ins/delATTG is highly warranted.Key words: polymorphism, multiple myeloma, interferon, NF-κB, treatment outcome.Citation: Vangsted AJ, Klausen TW, Gimsing P, Andersen NF, Abildgaard N, Gregersen H, and Vogel U. A polymorphism in NFKB1 is associated with improved effect of interferon-α maintenance treatment of patients with multiple myeloma after high-dose treatment with stem cell support.

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“…Further mapping of the region revealed a strong, significant correlation between one SNP in the Intercellular Adhesion Molecule 5 Precursor (ICAM5) and disease progression and prognosis . Specific SNPs in p53, estrogen receptor and progesterone receptor were found to be associated with a decreased risk of breast cancer, whereas SNPs in HRAS, GSTM1 and CYP19, as well as genes involved in DNA repair XRCC1, XRCC3, ERCC4/XPF, BRCA2 and RAI correlated with an increased risk of breast cancer (de Jong et al, 2005;Dumitrescu and Cotarla, 2005;Nexo et al, 2003).…”

Section: Single-nucleotide Aberrations As Prognostic Markers In Breasmentioning

confidence: 97%

Methods and biomarkers for the diagnosis and prognosis of cancer and other diseases: Towards personalized medicine

Anderson

Hansen

Mooren

et al. 2006

Drug Resistance Updates

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The rapid development of new diagnostic procedures, the mapping of the human genome, progress in mapping genetic polymorphisms, and recent advances in nucleic acid-and protein chip technologies are driving the development of personalized therapies. This breakthrough in medicine is expected to be achieved largely due to the implementation of "lab-on-the-chip" technology capable of performing hundreds, even thousands of biochemical, cellular and genetic tests on a single sample of blood or other body fluid. Focusing on a few disease-specific examples, this review discusses selected technologies and their combinations likely to be incorporated in the "lab-on-the-chip" and to provide rapid and versatile information about specific diseases entities. Focusing on breast cancer and after an overview of single-nucleotide polymorphism (SNP)-screening methodologies, we discuss the diagnostic and prognostic importance of SNPs. Next, using Duchenne muscular dystrophy (DMD) as an example, we provide a brief overview of powerful and innovative integration of traditional immuno-histochemistry techniques with advanced biophysical methods such as NMR-spectroscopy or Fourier-transformed infrared (FT-IR) spectroscopy. A brief overview of the challenges and opportunities provided by protein and aptamer microarrays follows. We conclude by highlighting novel and promising biochemical markers for the development of personalized treatment of cancer and other diseases: serum cytochrome c, cytokeratin-18 and -19 and their proteolytic fragments for the detection and quantitation of malignant tumor mass, tumor cell turn-over, inflammatory processes during hepatitis and Epstein-Barr virus (EBV)-induced hemophagocytic lymphohistiocytosis and apoptotic/necrotic cancer cell death.

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A specific haplotype of single nucleotide polymorphisms on chromosome 19q13.2-3 encompassing the gene RAI is indicative of post-menopausal breast cancer before age 55

Cited by 77 publications

References 17 publications

XRCC1 and ERCC1 variants modify malignant mesothelioma risk: A case–control study

XRCC1 and ERCC1 variants modify malignant mesothelioma risk: A case–control study

A polymorphism in NFKB1 is associated with improved effect of interferon- maintenance treatment of patients with multiple myeloma after high-dose treatment with stem cell support

Methods and biomarkers for the diagnosis and prognosis of cancer and other diseases: Towards personalized medicine

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