دورية أكاديمية
أعرض في EDS

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.

التفاصيل البيبلوغرافية
العنوان: A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
المؤلفون: Yokoyama S; Department of Dermatology, Cutaneous Biology Research Center, Massachusetts General Hospital, Harvard Medical School, Massachusetts 02114, USA., Woods SL, Boyle GM, Aoude LG, MacGregor S, Zismann V, Gartside M, Cust AE, Haq R, Harland M, Taylor JC, Duffy DL, Holohan K, Dutton-Regester K, Palmer JM, Bonazzi V, Stark MS, Symmons J, Law MH, Schmidt C, Lanagan C, O'Connor L, Holland EA, Schmid H, Maskiell JA, Jetann J, Ferguson M, Jenkins MA, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Whiteman DC, Pharoah PD, Easton DF, Dunning AM, Newton-Bishop JA, Montgomery GW, Martin NG, Mann GJ, Bishop DT, Tsao H, Trent JM, Fisher DE, Hayward NK, Brown KM
المصدر: Nature [Nature] 2011 Nov 13; Vol. 480 (7375), pp. 99-103. Date of Electronic Publication: 2011 Nov 13.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE
أسماء مطبوعة: Publication: Basingstoke : Nature Publishing Group
Original Publication: London, Macmillan Journals ltd.
مواضيع طبية MeSH: Genetic Predisposition to Disease* , Mutation*, Melanoma/*genetics , Microphthalmia-Associated Transcription Factor/*genetics, Adult ; Aged ; Aged, 80 and over ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Male ; Middle Aged ; Sumoylation/genetics ; Young Adult
مستخلص: So far, two genes associated with familial melanoma have been identified, accounting for a minority of genetic risk in families. Mutations in CDKN2A account for approximately 40% of familial cases, and predisposing mutations in CDK4 have been reported in a very small number of melanoma kindreds. Here we report the whole-genome sequencing of probands from several melanoma families, which we performed in order to identify other genes associated with familial melanoma. We identify one individual carrying a novel germline variant (coding DNA sequence c.G1075A; protein sequence p.E318K; rs149617956) in the melanoma-lineage-specific oncogene microphthalmia-associated transcription factor (MITF). Although the variant co-segregated with melanoma in some but not all cases in the family, linkage analysis of 31 families subsequently identified to carry the variant generated a log of odds (lod) score of 2.7 under a dominant model, indicating E318K as a possible intermediate risk variant. Consistent with this, the E318K variant was significantly associated with melanoma in a large Australian case-control sample. Likewise, it was similarly associated in an independent case-control sample from the United Kingdom. In the Australian sample, the variant allele was significantly over-represented in cases with a family history of melanoma, multiple primary melanomas, or both. The variant allele was also associated with increased naevus count and non-blue eye colour. Functional analysis of E318K showed that MITF encoded by the variant allele had impaired sumoylation and differentially regulated several MITF targets. These data indicate that MITF is a melanoma-predisposition gene and highlight the utility of whole-genome sequencing to identify novel rare variants associated with disease susceptibility.
التعليقات: Comment in: Nat Rev Cancer. 2012 Jan;12(1):1. (PMID: 22158021)
Comment in: Pigment Cell Melanoma Res. 2011 Dec;24(6):1079-80. (PMID: 22216437)
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معلومات مُعتمدة: R01 CA083115 United States CA NCI NIH HHS; P50CA9368 United States CA NCI NIH HHS; R01 CA83115 United States CA NCI NIH HHS; C588/A10589 United Kingdom CRUK_ Cancer Research UK; R01 AR043369 United States AR NIAMS NIH HHS; AR043369-14 United States AR NIAMS NIH HHS; 11022 United Kingdom CRUK_ Cancer Research UK; C588/A4994 United Kingdom CRUK_ Cancer Research UK; K24CA149202 United States CA NCI NIH HHS; 10589 United Kingdom CRUK_ Cancer Research UK; R01 CA-83115-01A2 United States CA NCI NIH HHS; C490/A11021 United Kingdom CRUK_ Cancer Research UK; R01 CA088363-09 United States CA NCI NIH HHS; C8216/A6129 United Kingdom CRUK_ Cancer Research UK; P50 CA093683 United States CA NCI NIH HHS; C8197/A10123 United Kingdom CRUK_ Cancer Research UK; K24 CA149202 United States CA NCI NIH HHS; CA88363 United States CA NCI NIH HHS; R01 CA088363 United States CA NCI NIH HHS; 10118 United Kingdom CRUK_ Cancer Research UK
سلسلة جزيئية: GEO GSE31269
المشرفين على المادة: 0 (MITF protein, human)
0 (Microphthalmia-Associated Transcription Factor)
تواريخ الأحداث: Date Created: 20111115 Date Completed: 20120223 Latest Revision: 20220331
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC3266855
DOI: 10.1038/nature10630
PMID: 22080950
قاعدة البيانات: MEDLINE
الوصف
تدمد:1476-4687
DOI:10.1038/nature10630