Novel and recurrent p14 mutations in Italian familial melanoma

Clinical Genetics
F BinniPaola Grammatico

Abstract

CDKN2A and CDK4 are the only known high-penetrant genes conferring proneness to cutaneous melanoma. The CDKN2A locus consists of four exons and encodes several alternate transcripts, two of which are p16(INK4a) and p14(ARF), and originate from different open reading frames. Exon 1alpha is specific for p16(INK4a), while exon 1beta characterizes p14(ARF). Most CDKN2A mutations are located in exons 1alpha and 2, while exon 1beta variations have been identified in rare melanoma-prone pedigrees. In a previous study, we investigated 155 Italian melanoma cases, including 94 familial melanomas (FAMs) and 61 sporadic multiple primary melanomas (MPMs), for p16(INK4a)/CDK4 germline alterations and identified 15 p16(INK4a) and 1 CDK4 point mutations. In the present work, we extended our search to p14(ARF) mutations and CDKN2A deletions in the remaining samples. We identified the recurrent g.193+1G> A mutation in two FAM cases, while an additional pedigree displayed the previously undescribed variant g.161G> A. Multiplex ligation-dependent probe amplification (MLPA) screening for copy variations resulted negative in all cases. In Italy, the overall frequency of p14(ARF) mutations is 3.2% in FAM and 0% in sporadic MPM. Re-evaluation of our p...Continue Reading

References

Apr 25, 2000·Journal of the American Academy of Dermatology·M Piepkorn
Dec 21, 2000·Current Oncology Reports·N Hayward
Jan 4, 2001·Human Molecular Genetics·J A Randerson-MoorD T Bishop
May 23, 2002·Human Molecular Genetics·Chelsee HewittNalin Thakker
Apr 28, 2005·Oncogene·Mark HarlandJulia A Newton Bishop
Sep 27, 2006·Genes, Chromosomes & Cancer·Stian KnappskogPer E Lønning
Oct 19, 2006·Cancer Research·Alisa M GoldsteinUNKNOWN Melanoma Genetics Consortium (GenoMEL)
Feb 16, 2007·The New England Journal of Medicine·Megan P HitchinsRobyn L Ward
Mar 28, 2008·Pigment Cell & Melanoma Research·S MajoreP Grammatico
Apr 3, 2009·Melanoma Research·Paola GhiorzoUNKNOWN Italian Melanoma Intergroup

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Citations

Jun 16, 2011·Pigment Cell & Melanoma Research·Chiara MeninEmma D'Andrea
Mar 1, 2012·ISRN Dermatology·Andrew L RossJames M Grichnik
Nov 6, 2010·Seminars in Cutaneous Medicine and Surgery·Durga UdayakumarHensin Tsao
Feb 2, 2017·Melanoma Research·Cristina PellegriniMaria Concetta Fargnoli
May 1, 2015·Melanoma Management·Giuseppe PalmieriAntonio Cossu
Mar 27, 2021·Hereditary Cancer in Clinical Practice·Sock Hoai ChanJoanne Ngeow
Apr 16, 2021·British Journal of Haematology·Akira NishimuraHirokazu Kanegane

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