ArticleFamilial cancer2010
Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations.
Article in Familial cancer, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 43 citations in OpenAlex.
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- Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma.The British journal of dermatology · 2022Article
- Coronary artery disease and cancer: a significant resemblance.Medical oncology (Northwood, London, England) · 2022Review
- Citrus-Gene interaction and melanoma risk in the UK Biobank.International journal of cancer · 2022Article
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- The association between genetic variants in the genes for cytochrome P450 B1 and ATP-binding cassette transporter genes and breast cancer risk.Molecular biology reports · 2020Article
- Construction of lncRNA-miRNA-mRNA networks reveals functional lncRNAs in abdominal aortic aneurysm.Experimental and therapeutic medicine · 2018Article
- A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2BMC cancer · 2018Article
- Association of TUSC1 and DPF3 gene polymorphisms with male infertility.Journal of assisted reproduction and genetics · 2018Article
- A genetic variant in CDKN2A/B gene is associated with the increased risk of breast cancer.Journal of clinical laboratory analysis · 2018Article
- Circulating Metabolites and Survival Among Patients With Pancreatic Cancer.Journal of the National Cancer Institute · 2016Article
- Article
- Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).The British journal of dermatology · 2015Article
- Genetic polymorphisms in the 9p21 region associated with risk of multiple cancers.Carcinogenesis · 2014Article
- The IRP/IRE system in vivo: insights from mouse models.Frontiers in pharmacology · 2014Review
- CXCR4 pathway associated with family history of melanoma.Cancer causes & control : CCC · 2014Article
- Common genetic variants in the 9p21 region and their associations with multiple tumours.British journal of cancer · 2013Article
- Association between functional polymorphisms in genes involved in the MAPK signaling pathways and cutaneous melanoma risk.Carcinogenesis · 2013Article
- TUSC1, a putative tumor suppressor gene, reduces tumor cell growth in vitro and tumor growth in vivo.PloS one · 2013Article
- Whole genome sequencing of matched primary and metastatic acral melanomas.Genome research · 2012Article
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Chromosome 9p21 has been implicated in the pathogenesis of cutaneous malignant melanoma (CMM). In addition to CDKN2A, the major known high-risk susceptibility gene for CMM, recent studies suggest that other 9p21 genes may be involved in melanoma/nevi development. To identify 9p21 variants that influence susceptibility to CMM and number of nevi in CMM-prone families with and without CDKN2A mutations, we analyzed 562 individuals (183 CMM) from 53 families (23 CDKN2A+, 30 CDKN2A-) for 233 tagging SNPs in 21 genes at 9p21. Single SNP- and gene-based regression analyses were used to assess the risk of CMM, nevi count, skin complexion, and tanning ability associated with these SNPs and genes. We found that SNP rs7023329 in the MTAP gene was associated with number of nevi (P (trend) = 0.003) confirming a recent finding by a genome-wide association study. In addition, three SNPs in the ACO1 gene, rs7855483 (P (trend) = 0.002), rs17288067 (P (trend) = 0.0009), and rs10813813 (P (trend) = 0.005), showed the strongest associations with CMM risk. None of the examined 9p21 SNPs was associated with skin complexion, whereas two SNPs, rs10964862 in IFNW1 (P (trend) = 0.003), and rs13290968 in TUSC1 (P (trend) = 0.0006), were associated with tanning ability. Gene-based analyses suggested that the ACO1 gene was significantly associated with CMM (P = 0.0004); genes IFNW1 (P = 0.002) and ACO1 (P = 0.0002) were significantly associated with tanning ability. Our findings are consistent with recent proposals that additional 9p21 genes may contribute to CMM susceptibility in CMM-prone families. These genetic variants may, at least partially, exert their effects through nevi and tanning ability.
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