From GWAS to genome sequencing: complementary approaches to identify melanoma predisposition genes
| Autor: | Stuart MacGregor, Helen Schmid, Lauren G. Aoude, Judith Symmons, David Youngkin, Kevin M. Brown, Sonika Tyagi, Graham J. Mann, Susan L. Woods, Nicholas K. Hayward, Vanessa F. Bonazzi, K Holohan, Richard F. Kefford, Bruce K. Armstrong, Jane M. Palmer, Jeff Trent, Grant W. Montgomery, N. G. Martin, Ken Dutton-Regester, G Giles, John W Kelly, John L. Hopper, Ji Liu, E Gillanders, Mitchell S. Stark, J Aitken, Michael Gartside, Elizabeth A. Holland, David C. Whiteman, Christopher W. Schmidt, David L. Duffy, Chantelle Agha-Hamilton, Mark A. Jenkins, Anne E. Cust |
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| Rok vydání: | 2012 |
| Předmět: |
Genetics
SLC45A2 education.field_of_study lcsh:QH426-470 biology Population Single-nucleotide polymorphism Genome-wide association study lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens lcsh:RC254-282 Penetrance lcsh:Genetics Oncology CDKN2A Meeting Abstract biology.protein education neoplasms Genotyping Genetics (clinical) Exome sequencing |
| Zdroj: | Europe PubMed Central Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A46 (2012) Hereditary Cancer in Clinical Practice |
| ISSN: | 1897-4287 |
| Popis: | Family and twin studies indicate that melanoma susceptibility has a strong genetic component. Very rarely, melanoma runs in families in which there is an inherited mutation in a single ‘high penetrance’ gene, but in the general population melanoma susceptibility is thought to be governed by variation in a series of ‘low penetrance’ genes. We sought to identify new melanoma risk genes of both classes by conducting an Australian genome-wide association study (GWAS) of ~2200 melanoma cases and ~4300 matched controls (from the AMFS and Q-MEGA studies), in parallel with whole-genome sequencing of cases from densely affected melanoma families with follow up genotyping of interesting variants in the GWAS sample and other highly case-loaded melanoma families. Genotyping of the GWAS sample was carried out using Illumina Hap610K or OMNI 1M arrays. All 25 SNPs that reached genome-wide statistical significance (i.e. p |
| Databáze: | OpenAIRE |
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