Melanoma genetics

Journal of Medical Genetics

Volumn 53, Issue 1, 2015, Pages 1-14

  Read, Jazlyn ^a,b   Wadt, Karin A W ^c   Hayward, Nicholas K ^a  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c Mental Health Center Glostrup   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ACD GENE; ALLELE; ARTICLE; BAP1 GENE; CANCER GENETICS; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CDK4 GENE; CDKN2A GENE; CUTANEOUS MELANOMA; FAMILIAL CANCER; FAMILY HISTORY; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GERMLINE MUTATION; HUMAN; KIDNEY CARCINOMA; MELANOMA; MESOTHELIOMA; MITF GENE; ONCOGENE; PANCREAS CANCER; PENETRANCE; POT1 GENE; PRIORITY JOURNAL; SOMATIC MUTATION; TERF2IP GENE; TERT GENE; UVEA MELANOMA; ANIMAL; ENVIRONMENT; EPISTASIS; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE ENVIRONMENT INTERACTION; MUTATION; NEOPLASMS; PATHOLOGY; PHENOTYPE; RISK; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; ENVIRONMENT; EPISTASIS, GENETIC; GENE-ENVIRONMENT INTERACTION; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MELANOMA; MUTATION; NEOPLASMS; PENETRANCE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK;

EID: 84958925248     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103150     Document Type: Article

References (108)

1. Goldstein AM, Chan M, Harland M, Hayward NK, Demenais F, Bishop DT, Azizi E, Bergman W, Bianchi-Scarra G, Bruno W, Calista D, Albright LA, Chaudru V, Chompret A, Cuellar F, Elder DE, Ghiorzo P, Gillanders EM, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, MacKie RM, Magnusson V, Mann GJ, Bishop JN, Palmer JM, Puig S, Puig-Butille JA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet 2007;44:99-106.
2. Barrett JH, Taylor JC, Bright C, Harland M, Dunning AM, Akslen LA, Andresen PA, Avril MF, Azizi E, Bianchi Scarra G, Brossard M, Brown KM, Debniak T, Elder DE, Friedman E, Ghiorzo P, Gillanders EM, Gruis NA, Hansson J, Helsing P, Hocevar M, Hoiom V, Ingvar C, Landi MT, Lang J, Lathrop GM, Lubinski J, Mackie RM, Molven A, Novakovic S, Olsson H, Puig S, Puig-Butille JA, van der Stoep N, van Doorn R, van Workum W, Goldstein AM, Kanetsky PA, Pharoah PD, Demenais F, Hayward NK, Newton Bishop JA, Bishop DT, Iles MM. Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions. Int J Cancer 2014;136:1351-60.
3. Fargnoli MC, Gandini S, Peris K, Maisonneuve P, Raimondi S. MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis. Eur J Cancer 2010;46:1413-20.
4. Helgadottir H, Hoiom V, Jonsson G, Tuominen R, Ingvar C, Borg A, Olsson H, Hansson J. High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families. J Med Genet 2014;51:545-52.
5. Goldstein AM, Chan M, Harland M, Gillanders EM, Hayward NK, Avril MF, Azizi E, Bianchi-Scarra G, Bishop DT, Bressac-de Paillerets B, Bruno W, Calista D, Cannon Albright LA, Demenais F, Elder DE, Ghiorzo P, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, Mackie RM, Magnusson V, Mann GJ, Niendorf K, Newton Bishop J, Palmer JM, Puig S, Puig-Butille JA, de Snoo FA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E. High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res 2006;66:9818-28.
6. de Snoo FA, Bishop DT, Bergman W, van Leeuwen I, van der Drift C, van Nieuwpoort FA, Out-Luiting CJ, Vasen HF, ter Huurne JA, Frants RR, Willemze R, Breuning MH, Gruis NA. Increased risk of cancer other than melanoma in CDKN2A founder mutation ( p16-Leiden)-positive melanoma families. Clin Cancer Res 2008;14:7151-7.
7. Goldstein AM, Stacey SN, Olafsson JH, Jonsson GF, Helgason A, Sulem P, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Kjartansson J, Kostic J, Masson G, Kristjansson K, Gulcher JR, Kong A, Thorsteinsdottir U, Rafnar T, Tucker MA, Stefansson K. CDKN2A mutations and melanoma risk in the Icelandic population. J Med Genet 2008;45:284-9.
8. Pedace L, De Simone P, Castori M, Sperduti I, Silipo V, Eibenschutz L, De Bernardo C, Buccini P, Moscarella E, Panetta C, Ferrari A, Grammatico P, Catricala C. Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma. Cancer Epidemiol 2011;35:e116-20.
9. van der Rhee JI, Krijnen P, Gruis NA, de Snoo FA, Vasen HF, Putter H, Kukutsch NA, Bergman W. Clinical and histologic characteristics of malignant melanoma in families with a germline mutation in CDKN2A. J Am Acad Dermatol 2011;65:281-8.
10. Begg CB, Orlow I, Hummer AJ, Armstrong BK, Kricker A, Marrett LD, Millikan RC, Gruber SB, Anton-Culver H, Zanetti R, Gallagher RP, Dwyer T, Rebbeck TR, Mitra N, Busam K, From L, Berwick M. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst 2005;97:1507-15.
11. Maccioni L, Rachakonda PS, Bermejo JL, Planelles D, Requena C, Hemminki K, Nagore E, Kumar R. Variants at the 9p21 locus and melanoma risk. BMC Cancer 2013;13:325.
12. Kumar R, Smeds J, Berggren P, Straume O, Rozell BL, Akslen LA, Hemminki K. A single nucleotide polymorphism in the 30untranslated region of the CDKN2A gene is common in sporadic primary melanomas but mutations in the CDKN2B, CDKN2C, CDK4 and p53 genes are rare. Int J Cancer 2001;95:388-93.
13. Yang XR, Liang X, Pfeiffer RM, Wheeler W, Maeder D, Burdette L, Yeager M, Chanock S, Tucker MA, Goldstein AM. Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations. Fam Cancer 2010;9:625-33.
14. Bishop DT, Demenais F, Iles MM, Harland M, Taylor JC, Corda E, Randerson-Moor J, Aitken JF, Avril MF, Azizi E, Bakker B, Bianchi-Scarra G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Chin AWT, Debniak T, Galore-Haskel G, Ghiorzo P, Gut I, Hansson J, Hocevar M, Hoiom V, Hopper JL, Ingvar C, Kanetsky PA, Kefford RF, Landi MT, Lang J, Lubinski J, Mackie R, Malvehy J, Mann GJ, Martin NG, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Puig S, Weiss M, van Workum W, Zelenika D, Brown KM, Goldstein AM, Gillanders EM, Boland A, Galan P, Elder DE, Gruis NA, Hayward NK, Lathrop GM, Barrett JH, Bishop JA. Genome-wide association study identifies three loci associated with melanoma risk. Nat Genet 2009;41:920-5.
15. Florell S, Meyer S, Boucher K, Porter-Gill P, Hart M, Erickson J, Cannon Albright LA, Pershing L, Harris R, Samlowski W, Zone J, Leachman S. Longitudinal assessment of the nevus phenotype in a melanoma kindred. J Invest Dermatol 2004;123:576-82.
16. Puntervoll HE, Yang XR, Vetti HH, Bachmann IM, Avril MF, Benfodda M, Catricala C, Dalle S, Duval-Modeste AB, Ghiorzo P, Grammatico P, Harland M, Hayward NK, Hu HH, Jouary T, Martin-Denavit T, Ozola A, Palmer JM, Pastorino L, Pjanova D, Soufir N, Steine SJ, Stratigos AJ, Thomas L, Tinat J, Tsao H, Veinalde R, Tucker MA, Bressac-de Paillerets B, Newton-Bishop JA, Goldstein AM, Akslen LA, Molven A. Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. J Med Genet 2013;50:264-70.
17. Nikolaou V, Kang X, Stratigos A, Gogas H, Latorre MC, Gabree M, Plaka M, Njauw CN, Kypreou K, Mirmigi I, Stefanaki I, Tsao H. Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. Br J Dermatol 2011;165:1219-22.
18. Veinalde R, Ozola A, Azarjana K, Molven A, Akslen LA, Donina S, Proboka G, Cema I, Baginskis A, Pjanova D. Analysis of Latvian familial melanoma patients shows novel variants in the noncoding regions of CDKN2A and that the CDK4 mutation R24H is a founder mutation. Melanoma Res 2013;23:221-6.
19. Wadt KA, Aoude LG, Krogh L, Sunde L, Bojesen A, Gronskov K, Wartacz N, Ek J, Tolstrup-Andersen M, Klarskov-Andersen M, Borg A, Heegaard S, Kiilgaard JF, Hansen TV, Klein K, Jonsson G, Drzewiecki KT, Duno M, Hayward NK, Gerdes AM. Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. PLoS ONE 2015;10:e0122662.
20. Testa JR, Cheung M, Pei J, Below JE, Tan Y, Sementino E, Cox NJ, Dogan AU, Pass HI, Trusa S, Hesdorffer M, Nasu M, Powers A, Rivera Z, Comertpay S, Tanji M, Gaudino G, Yang H, Carbone M. Germline BAP1 mutations predispose to malignant mesothelioma. Nat Genet 2011;43:1022-5.
21. Wiesner T, Obenauf AC, Murali R, Fried I, Griewank KG, Ulz P, Windpassinger C, Wackernagel W, Loy S, Wolf I, Viale A, Lash AE, Pirun M, Socci ND, Rutten A, Palmedo G, Abramson D, Offit K, Ott A, Becker JC, Cerroni L, Kutzner H, Bastian BC, Speicher MR. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet 2011;43:1018-21.
22. Abdel-Rahman MH, Pilarski R, Cebulla CM, Massengill JB, Christopher BN, Boru G, Hovland P, Davidorf FH. Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet 2011;48:856-9.
23. Njauw CN, Kim I, Piris A, Gabree M, Taylor M, Lane AM, DeAngelis MM, Gragoudas E, Duncan LM, Tsao H. Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. PLoS ONE 2012;7:e35295.
24. Wadt K, Choi J, Chung JY, Kiilgaard J, Heegaard S, Drzewiecki KT, Trent JM, Hewitt SM, Hayward NK, Gerdes AM, Brown KM. A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma. Pigment Cell Melanoma Res 2012;25:815-18.
25. Aoude LG, Wadt K, Bojesen A, Cruger D, Borg A, Trent JM, Brown KM, Gerdes AM, Jonsson G, Hayward NK. A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers. PLoS One 2013;8:e72144.
26. Popova T, Hebert L, Jacquemin V, Gad S, Caux-Moncoutier V, Dubois-d'Enghien C, Richaudeau B, Renaudin X, Sellers J, Nicolas A, Sastre-Garau X, Desjardins L, Gyapay G, Raynal V, Sinilnikova OM, Andrieu N, Manie E, de Pauw A, Gesta P, Bonadona V, Maugard CM, Penet C, Avril MF, Barillot E, Cabaret O, Delattre O, Richard S, Caron O, Benfodda M, Hu HH, Soufir N, Bressac-de Paillerets B, Stoppa-Lyonnet D, Stern MH. Germline BAP1 mutations predispose to renal cell carcinomas. Am J Hum Genet 2013;92:974-80.
27. de la Fouchardiere A, Cabaret O, Savin L, Combemale P, Schvartz H, Penet C, Bonadona V, Soufir N, Bressac-de Paillerets B. Germline BAP1 mutations predispose also to multiple basal cell carcinomas. Clin Genet 2015;88:273-7.
28. Wadt KA, Aoude LG, Johansson P, Solinas A, Pritchard A, Crainic O, Andersen MT, Kiilgaard JF, Heegaard S, Sunde L, Federspiel B, Madore J, Thompson JF, McCarthy SW, Goodwin A, Tsao H, Jonsson G, Busam K, Gupta R, Trent JM, Gerdes AM, Brown KM, Scolyer RA, Hayward NK. A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. Clin Genet 2015;88:267-72.
29. Wiesner T, Fried I, Ulz P, Stacher E, Popper H, Murali R, Kutzner H, Lax S, Smolle-Juttner F, Geigl JB, Speicher MR. Toward an improved definition of the tumor spectrum associated with BAP1 germline mutations. J Clin Oncol 2012;30: e337-40.
30. Carbone M, Yang H, Pass HI, Krausz T, Testa JR, Gaudino G. BAP1 and cancer. Nat Rev Cancer 2013;13:153-9.
31. Wiesner T, Murali R, Fried I, Cerroni L, Busam K, Kutzner H, Bastian BC. A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression. Am J Surg Pathol 2012;36:818-30.
32. Hoiom V, Edsgard D, Helgadottir H, Eriksson H, All-Ericsson C, Tuominen R, Ivanova I, Lundeberg J, Emanuelsson O, Hansson J. Hereditary uveal melanoma: a report of a germline mutation in BAP1. Genes Chromosomes Cancer 2013;52:378-84.
33. Cheung M, Talarchek J, Schindeler K, Saraiva E, Penney LS, Ludman M, Testa JR. Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma. Cancer Genet 2013;206:206-10.
34. Maerker DA, Zeschnigk M, Nelles J, Lohmann DR, Worm K, Bosserhoff AK, Krupar R, Jagle H. BAP1 germline mutation in two first grade family members with uveal melanoma. Br J Ophthalmol 2014;98:224-7.
35. Pilarski R, Cebulla CM, Massengill JB, Rai K, Rich T, Strong L, McGillivray B, Asrat MJ, Davidorf FH, Abdel-Rahman MH. Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases. Genes Chromosomes Cancer 2014;53:177-82.
36. Murali R, Wilmott JS, Jakrot V, Al-Ahmadie HA, Wiesner T, McCarthy SW, Thompson JF, Scolyer RA. BAP1 expression in cutaneous melanoma: a pilot study. Pathology 2013;45:606-9.
37. Flynn RL, Zou L. Oligonucleotide/oligosaccharide-binding fold proteins: a growing family of genome guardians. Crit Rev Biochem Mol Biol 2010;45:266-75.
38. Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, López-Otín C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ. POT1 loss-of-function variants predispose to familial melanoma. Nat Genet 2014;46:478-81.
39. Shi J, Yang XR, Ballew B, Rotunno M, Calista D, Fargnoli MC, Ghiorzo P, Bressac-de Paillerets B, Nagore E, Avril MF, Caporaso NE, McMaster ML, Cullen M, Wang Z, Zhang X, Bruno W, Pastorino L, Queirolo P, Banuls-Roca J, Garcia-Casado Z, Vaysse A, Mohamdi H, Riazalhosseini Y, Foglio M, Jouenne F, Hua X, Hyland PL, Yin J, Vallabhaneni H, Chai W, Minghetti P, Pellegrini C, Ravichandran S, Eggermont A, Lathrop M, Peris K, Scarra GB, Landi G, Savage SA, Sampson JN, He J, Yeager M, Goldin LR, Demenais F, Chanock SJ, Tucker MA, Goldstein AM, Liu Y, Landi MT. Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. Nat Genet 2014;46:482-6.
40. Burke LS, Hyland PL, Pfeiffer RM, Prescott J, Wheeler W, Mirabello L, Savage SA, Burdette L, Yeager M, Chanock S, De Vivo I, Tucker MA, Goldstein AM, Yang XR. Telomere length and the risk of cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations. PLoS ONE 2013;8:e71121.
41. Aoude LG, Pritchard AL, Robles-Espinoza CD, Wadt K, Harland M, Choi J, Gartside M, Quesada V, Johansson P, Palmer JM, Ramsay AJ, Zhang X, Jones K, Symmons J, Holland EA, Schmid H, Bonazzi V, Woods S, Dutton-Regester K, Stark MS, Snowden H, van Doorn R, Montgomery GW, Martin NG, Keane TM, López-Otín C, Gerdes AM, Olsson H, Ingvar C, Borg A, Gruis NA, Trent JM, Jönsson G, Bishop DT, Mann GJ, Newton-Bishop JA, Brown KM, Adams DJ, Hayward NK. Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma. J Natl Cancer Inst 2014;107:pii: dju408.
42. Vinagre J, Almeida A, Populo H, Batista R, Lyra J, Pinto V, Coelho R, Celestino R, Prazeres H, Lima L, Melo M, da Rocha AG, Preto A, Castro P, Castro L, Pardal F, Lopes JM, Santos LL, Reis RM, Cameselle-Teijeiro J, Sobrinho-Simoes M, Lima J, Maximo V, Soares P. Frequency of TERT promoter mutations in human cancers. Nat Commun 2013;4:2185.
43. Horn S, Figl A, Rachakonda PS, Fischer C, Sucker A, Gast A, Kadel S, Moll I, Nagore E, Hemminki K, Schadendorf D, Kumar R. TERT promoter mutations in familial and sporadic melanoma. Science 2013;339:959-61.
44. Lu Y, Ek WE, Whiteman D, Vaughan TL, Spurdle AB, Easton DF, Pharoah PD, Thompson DJ, Dunning AM, Hayward NK, Chenevix-Trench G, Macgregor S. Most common 'sporadic' cancers have a significant germline genetic component. Hum Mol Genet 2014;23:6112-18.
45. Beaumont KA, Shekar SN, Newton RA, James MR, Stow JL, Duffy DL, Sturm RA. Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles. Hum Mol Genet 2007;16:2249-60.
46. Beaumont KA, Newton RA, Smit DJ, Leonard JH, Stow JL, Sturm RA. Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk. Hum Mol Genet 2005;14:2145-54.
47. Newton RA, Roberts DW, Leonard JH, Sturm RA. Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways. Peptides 2007;28:2387-96.
48. Hu HH, Benfodda M, Dumaz N, Gazal S, Descamps V, Bourillon A, Basset-Seguin N, Riffault A, Ezzedine K, Bagot M, Bensussan A, Saiag P, Grandchamp B, Soufir N. A large french case-control study emphasizes the role of rare Mc1R variants in melanoma risk. Biomed Res Int 2014;2014:925716.
49. Pasquali E, Garcia-Borron JC, Fargnoli MC, Gandini S, Maisonneuve P, Bagnardi V, Specchia C, Liu F, Kayser M, Nijsten T, Nagore E, Kumar R, Hansson J, Kanetsky PA, Ghiorzo P, Debniak T, Branicki W, Gruis NA, Han J, Dwyer T, Blizzard L, Landi MT, Palmieri G, Ribas G, Stratigos A, Council ML, Autier P, Little J, Newton-Bishop J, Sera F, Raimondi S. MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project. Int J Cancer 2015;136:618-31.
50. Kanetsky PA, Panossian S, Elder DE, Guerry D, Ming ME, Schuchter L, Rebbeck TR. Does MC1R genotype convey information about melanoma risk beyond risk phenotypes? Cancer 2010;116:2416-28.
51. Jarrett SG, Wolf Horrell EM, Christian PA, Vanover JC, Boulanger MC, Zou Y, D'Orazio JA. PKA-mediated phosphorylation of ATR promotes recruitment of XPA to UV-induced DNA damage. Mol Cell 2014;54:999-1011.
52. Kadekaro AL, Chen J, Yang J, Chen S, Jameson J, Swope VB, Cheng T, Kadakia M, Abdel-Malek Z. Alpha-melanocyte-stimulating hormone suppresses oxidative stress through a p53-mediated signaling pathway in human melanocytes. Mol Cancer Res 2012;10:778-86.
53. Kadekaro AL, Leachman S, Kavanagh RJ, Swope V, Cassidy P, Supp D, Sartor M, Schwemberger S, Babcock G, Wakamatsu K, Ito S, Koshoffer A, Boissy RE, Manga P, Sturm RA, Abdel-Malek ZA. Melanocortin 1 receptor genotype: an important determinant of the damage response of melanocytes to ultraviolet radiation. Faseb j 2010;24:3850-60.
54. Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardiere A, Molinie V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugieres L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanche H, Zelenika D, Galan P, Aubin F, Bachollet B, Becuwe C, Berthet P, Bignon YJ, Bonadona V, Bonafe JL, Bonnet-Dupeyron MN, Cambazard F, Chevrant-Breton J, Coupier I, Dalac S, Demange L, d'Incan M, Dugast C, Faivre L, Vincent-Fetita L, Gauthier-Villars M, Gilbert B, Grange F, Grob JJ, Humbert P, Janin N, Joly P, Kerob D, Lasset C, Leroux D, Levang J, Limacher JM, Livideanu C, Longy M, Lortholary A, Stoppa-Lyonnet D, Mansard S, Mansuy L, Marrou K, Mateus C, Maugard C, Meyer N, Nogues C, Souteyrand P, Venat-Bouvet L, Zattara H, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B. A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature 2011;480:94-8.
55. Yokoyama S, 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. A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. Nature 2011;480:99-103.
56. Murakami H, Arnheiter H. Sumoylation modulates transcriptional activity of MITF in a promoter-specific manner. Pigment Cell Res 2005;18:265-77.
57. Ghiorzo P, Pastorino L, Queirolo P, Bruno W, Tibiletti MG, Nasti S, Andreotti V, Paillerets BB, Bianchi Scarra G. Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. Pigment Cell Melanoma Res 2013;26:259-62.
58. Sturm RA, Fox C, McClenahan P, Jagirdar K, Ibarrola-Villava M, Banan P, Abbott NC, Ribas G, Gabrielli B, Duffy DL, Soyer HP. Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. J Invest Dermatol 2014;134:141-9.
59. Ibarrola-Villava M, Fernandez LP, Alonso S, Boyano MD, Pena-Chilet M, Pita G, Aviles JA, Mayor M, Gomez-Fernandez C, Casado B, Martin-Gonzalez M, Izagirre N, De la Rua C, Asumendi A, Perez-Yarza G, Arroyo-Berdugo Y, Boldo E, Lozoya R, Torrijos-Aguilar A, Pitarch A, Pitarch G, Sanchez-Motilla JM, Valcuende-Cavero F, Tomas-Cabedo G, Perez-Pastor G, Diaz-Perez JL, Gardeazabal J, Martinez de Lizarduy I, Sanchez-Diez A, Valdes C, Pizarro A, Casado M, Carretero G, Botella-Estrada R, Nagore E, Lazaro P, Lluch A, Benitez J, Martinez-Cadenas C, Ribas G. A customized pigmentation SNP array identifies a novel SNP associated with melanoma predisposition in the SLC45A2 gene. PLoS ONE 2011;6:e19271.
60. Ibarrola-Villava M, Hu HH, Guedj M, Fernandez LP, Descamps V, Basset-Seguin N, Bagot M, Benssussan A, Saiag P, Fargnoli MC, Peris K, Aviles JA, Lluch A, Ribas G, Soufir N. MC1R, SLC45A2 and TYR genetic variants involved in melanoma susceptibility in southern European populations: results from a meta-analysis. Eur J Cancer 2012;48:2183-91.
61. Duffy DL, Zhao ZZ, Sturm RA, Hayward NK, Martin NG, Montgomery GW. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. J Invest Dermatol 2010;130:520-8.
62. Kocarnik JM, Park SL, Han J, Dumitrescu L, Cheng I, Wilkens LR, Schumacher FR, Kolonel L, Carlson CS, Crawford DC, Goodloe RJ, Dilks H, Baker P, Richardson D, Ambite JL, Song F, Quresh AA, Zhang M, Duggan D, Hutter C, Hindorff LA, Bush WS, Kooperberg C, Le Marchand L, Peters U. Replication of associations between GWAS SNPs and Melanoma risk in the Population Architecture Using Genomics and Epidemiology (PAGE) study. J Invest Dermatol 2014;134:2049-52.
63. Guedj M, Bourillon A, Combadieres C, Rodero M, Dieude P, Descamps V, Dupin N, Wolkenstein P, Aegerter P, Lebbe C, Basset-Seguin N, Prum B, Saiag P, Grandchamp B, Soufir N. Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. Hum Mutat 2008;29:1154-60.
64. Raimondi S, Sera F, Gandini S, Iodice S, Caini S, Maisonneuve P, Fargnoli MC. MC1R variants, melanoma and red hair color phenotype: a meta-analysis. Int J Cancer 2008;122:2753-60.
65. Barrett JH, Iles MM, Harland M, Taylor JC, Aitken JF, Andresen PA, Akslen LA, Armstrong BK, Avril MF, Azizi E, Bakker B, Bergman W, Bianchi-Scarra G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Corda E, Cust AE, Debniak T, Duffy D, Dunning AM, Easton DF, Friedman E, Galan P, Ghiorzo P, Giles GG, Hansson J, Hocevar M, Hoiom V, Hopper JL, Ingvar C, Janssen B, Jenkins MA, Jonsson G, Kefford RF, Landi G, Landi MT, Lang J, Lubinski J, Mackie R, Malvehy J, Martin NG, Molven A, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Pastorino L, Puig S, Puig-Butille JA, Randerson-Moor J, Snowden H, Tuominen R, Van Belle P, van der Stoep N, Whiteman DC, Zelenika D, Han J, Fang S, Lee JE, Wei Q, Lathrop GM, Gillanders EM, Brown KM, Goldstein AM, Kanetsky PA, Mann GJ, Macgregor S, Elder DE, Amos CI, Hayward NK, Gruis NA, Demenais F, Bishop JA, Bishop DT. Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet 2011;43:1108-13.
66. Gudbjartsson DF, Sulem P, Stacey SN, Goldstein AM, Rafnar T, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Sveinsdottir SG, Magnusson V, Lindblom A, Kostulas K, Botella-Estrada R, Soriano V, Juberias P, Grasa M, Saez B, Andres R, Scherer D, Rudnai P, Gurzau E, Koppova K, Kiemeney LA, Jakobsdottir M, Steinberg S, Helgason A, Gretarsdottir S, Tucker MA, Mayordomo JI, Nagore E, Kumar R, Hansson J, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat Genet 2008;40:886-91.
67. Amos CI, Wang LE, Lee JE, Gershenwald JE, Chen WV, Fang S, Kosoy R, Zhang M, Qureshi AA, Vattathil S, Schacherer CW, Gardner JM, Wang Y, Bishop DT, Barrett JH, MacGregor S, Hayward NK, Martin NG, Duffy DL, Mann GJ, Cust A, Hopper J, Brown KM, Grimm EA, Xu Y, Han Y, Jing K, McHugh C, Laurie CC, Doheny KF, Pugh EW, Seldin MF, Han J, Wei Q. Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. Hum Mol Genet 2011;20:5012-23.
68. Sturm RA, Duffy DL, Zhao ZZ, Leite FP, Stark MS, Hayward NK, Martin NG, Montgomery GW. A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. Am J Hum Genet 2008;82:424-31.
69. Nan H, Kraft P, Hunter DJ, Han J. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Int J Cancer 2009;125:909-17.
70. Chatzinasiou F, Lill CM, Kypreou K, Stefanaki I, Nicolaou V, Spyrou G, Evangelou E, Roehr JT, Kodela E, Katsambas A, Tsao H, Ioannidis JPA, Bertram L, Stratigos AJ. Comprehensive Field Synopsis and Systematic Meta-analyses of Genetic Association Studies in Cutaneous Melanoma. J Natl Cancer Inst 2011;103:1227-35.
71. Jannot A-S, Meziani R, Bertrand G, Gerard B, Descamps V, Archimbaud A, Picard C, Ollivaud L, Basset-Seguin N, Kerob D, Lanternier G, Lebbe C, Saiag P, Crickx B, Clerget-Darpoux F, Grandchamp B, Soufir N, Melan C. Allele variations in the OCA2 gene ( pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. Eur J Hum Genet 2005;13:913-20.
72. Fernandez LP, Milne RL, Pita G, Avilés JA, Lázaro P, Benítez J, Ribas G. SLC45A2: a novel malignant melanoma-associated gene. Hum Mutat 2008;29:1161-7.
73. Law MH, Bishop DT, Lee JE, Brossard M, Martin NG, Moses EK, Song F, Barrett JH, Kumar R, Easton D, Pharoah PD, Swerdlow AJ, Kypreou K, Taylor JC, Harland M, Randerson-Moor J, Akslen LA, Andresen PA, Avril MF, Azizi E, Scarra GB, Brown KM, Debniak B, Duffy D, Elder DE, Fang S, Friedman E, Galan P, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Helsing P, Hocevar M, Hoiom V, Ingvar C, Kanetsky P, Chen WV, Consortium G, Investigators E-H, Group TSS, Investigators Q-MaQ, Investigators A, Group AMS, Landi MT, Lang J, Lathrop M, Lubinski J, Mackie R, Mann GJ, Molven A, Montgomery GW, Novakovic S, Olsson H, Puig S, Puig-Butille JA, Qureshi AA, Radford-Smith GL, van der Stoep N, van Doorn R, Whiteman D, Craig JE, Schadendorf D, Simms LA, Burdon KP, Nyholt DR, Pooley KA, Orr N, Stratigos A, Cust A, Ward SV, Hayward NK, Han J, Schulze HJ, Dunning AM, Newton Bishop J, Demenais F, Amos CI, MacGregor S, Iles MM. Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nat Genet Published Online First: 3 Aug 2015 doi:10.1038/ng.3373
74. Kanetsky PA, Swoyer J, Panossian S, Holmes R, Guerry D, Rebbeck TR. A polymorphism in the agouti signaling protein gene is associated with human pigmentation. Am J Hum Genet 2002;70:770-5.
75. Meziani R, Descamps V, Gérard B, Matichard E, Bertrand G, Archimbaud A, Ollivaud L, Saiag P, Lebbé C, Basset-Seguin N, Alberti C, Crickx B, Grandchamp B, Soufir N. Association study of the g.8818A>G polymorphism of the human agouti gene with melanoma risk and pigmentary characteristics in a French population. J Dermatol Sci 2005;40:133-6.
76. Falchi M, Bataille V, Hayward NK, Duffy DL, Bishop JAN, Pastinen T, Cervino A, Zhao ZZ, Deloukas P, Soranzo N, Elder DE, Barrett JH, Martin NG, Bishop DT, Montgomery GW, Spector TD. Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. Nat Genet 2009;41:915-19.
77. Law MH, Montgomery GW, Brown KM, Martin NG, Mann GJ, Hayward NK, MacGregor S, Q-MEGA and AMFS Investigators. Meta-analysis combining new and existing data sets confirms that the TERT-CLPTM1L locus influences melanoma risk. J Invest Dermatol 2012;132:485-7.
78. Iles MM, Law MH, Stacey SN, Han J, Fang S, Pfeiffer R, Harland M, MacGregor S, Taylor JC, Aben KK, Akslen LA, Avril M-F, Azizi E, Bakker B, Benediktsdottir KR, Bergman W, Scarrà GB, Brown KM, Calista D, Chaudru V, Fargnoli MC, Cust AE, Demenais F, de Waal AC, Debniak T, Elder DE, Friedman E, Galan P, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Helsing P, Hočevar M, Höiom V, Hopper JL, Ingvar C, Janssen M, Jenkins MA, Kanetsky PA, Kiemeney LA, Lang J, Lathrop GM, Leachman S, Lee JE, Lubiński J, Mackie RM, Mann GJ, Mayordomo JI, Molven A, Mulder S, Nagore E, Novaković S, Okamoto I, Olafsson JH, Olsson H, Pehamberger H, Peris K, Grasa MP, Planelles D, Puig S, Puig-Butille JA, Randerson-Moor J, Requena C, Rivoltini L, Rodolfo M, Santinami M, Sigurgeirsson B, Snowden H, Song F, Sulem P, Thorisdottir K, Tuominen R, Van Belle P, van der Stoep N, van Rossum MM, Wei Q, Wendt J, Zelenika D, Zhang M, Landi MT, Thorleifsson G, Bishop DT, Amos CI, Hayward NK, Stefansson K, Bishop JAN, Barrett JH, GenoMEL Consortium, Q-MEGA and AMFS Investigators. A variant in FTO shows association with melanoma risk not due to BMI. Nat Genet 2013;45:428-32.
79. MacGregor S, Montgomery GW, Liu JZ, Zhao ZZ, Henders AK, Stark M, Schmid H, Holland EA, Duffy DL, Zhang M, Painter JN, Nyholt DR, Maskiell JA, Jetann J, Ferguson M, Cust AE, Jenkins MA, Whiteman DC, Olsson H, Puig S, Bianchi-Scarrà G, Hansson J, Demenais F, Landi MT, Debniak T, Mackie R, Azizi E, Bressac-de Paillerets B, Goldstein AM, Kanetsky PA, Gruis NA, Elder DE, Newton-Bishop JA, Bishop DT, Iles MM, Helsing P, Amos CI, Wei Q, Wang L-E, Lee JE, Qureshi AA, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Han J, Hopper JL, Trent JM, Brown KM, Martin NG, Mann GJ, Hayward NK. Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. Nat Genet 2011;43:1114-18.
80. Zhang M, Qureshi AA, Guo Q, Han J. Genetic variation in DNA repair pathway genes and melanoma risk. DNA Repair (Amst) 2011;10:111-16.
81. Xiao F, Ma J, Cai G, Fang S, Lee JE, Wei Q, Amos CI. Natural and orthogonal model for estimating gene-gene interactions applied to cutaneous melanoma. Hum Genet 2014;133:559-74.
82. Berwick M, MacArthur J, Orlow I, Kanetsky P, Begg CB, Luo L, Reiner A, Sharma A, Armstrong BK, Kricker A, Cust AE, Marrett LD, Gruber SB, Anton-Culver H, Zanetti R, Rosso S, Gallagher RP, Dwyer T, Venn A, Busam K, From L, White K, Thomas NE. MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors. Pigment Cell Melanoma Res 2014;27:485-8.
83. Cao J, Wan L, Hacker E, Dai X, Lenna S, Jimenez-Cervantes C, Wang Y, Leslie NR, Xu GX, Widlund HR, Ryu B, Alani RM, Dutton-Regester K, Goding CR, Hayward NK, Wei W, Cui R. MC1R is a potent regulator of PTEN after UV exposure in melanocytes. Mol Cell 2013;51:409-22.
84. Mukherjee B, Delancey JO, Raskin L, Everett J, Jeter J, Begg CB, Orlow I, Berwick M, Armstrong BK, Kricker A, Marrett LD, Millikan RC, Culver HA, Rosso S, Zanetti R, Kanetsky PA, From L, Gruber SB. Risk of non-melanoma cancers in firstdegree relatives of CDKN2A mutation carriers. J Natl Cancer Inst 2012; 104:953-6.
85. Potrony M, Puig-Butille JA, Aguilera P, Badenas C, Carrera C, Malvehy J, Puig S. Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling. J Am Acad Dermatol 2014;71:888-95.
86. Li WQ, Pfeiffer RM, Hyland PL, Shi J, Gu F, Wang Z, Bhattacharjee S, Luo J, Xiong X, Yeager M, Deng X, Hu N, Taylor PR, Albanes D, Caporaso NE, Gapstur SM, Amundadottir L, Chanock SJ, Chatterjee N, Landi MT, Tucker MA, Goldstein AM, Yang XR. Genetic polymorphisms in the 9p21 region associated with risk of multiple cancers. Carcinogenesis 2014;35:2698-705.
87. Ramsay AJ, Quesada V, Foronda M, Conde L, Martinez-Trillos A, Villamor N, Rodriguez D, Kwarciak A, Garabaya C, Gallardo M, Lopez-Guerra M, Lopez-Guillermo A, Puente XS, Blasco MA, Campo E, Lopez-Otin C. POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. Nat Genet 2013;45:526-30.
88. Speedy HE, Di Bernardo MC, Sava GP, Dyer MJ, Holroyd A, Wang Y, Sunter NJ, Mansouri L, Juliusson G, Smedby KE, Roos G, Jayne S, Majid A, Dearden C, Hall AG, Mainou-Fowler T, Jackson GH, Summerfield G, Harris RJ, Pettitt AR, Allsup DJ, Bailey JR, Pratt G, Pepper C, Fegan C, Rosenquist R, Catovsky D, Allan JM, Houlston RS. A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. Nat Genet 2014;46:56-60.
89. Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML, Gliogene Consortium. Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst 2014;107:384.
90. Scheurer ME, Etzel CJ, Liu M, El-Zein R, Airewele GE, Malmer B, Aldape KD, Weinberg JS, Yung WK, Bondy ML. Aggregation of cancer in first-degree relatives pf patients with glioma. Cancer Epidemiol Biomarkers Prev 2007;16:2491-5.
91. Shete S, Hosking FJ, Robertson LB, Dobbins SE, Sanson M, Malmer B, Simon M, Marie Y, Boisselier B, Delattre JY, Hoang-Xuan K, El Hallani S, Idbaih A, Zelenika D, Andersson U, Henriksson R, Bergenheim AT, Feychting M, Lönn S, Ahlbom A, Schramm J, Linnebank M, Hemminki K, Kumar R, Hepworth SJ, Price A, Armstrong G, Liu Y, Gu X, Yu R, Lau C, Schoemaker M, Muir K, Swerdlow A, Lathrop M, Bondy M, Houlston RS. Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet 2009;41:899-904.
92. Wrensch M, Jenkins RB, Chang JS, Yeh RF, Xiao Y, Decker PA, Ballman KV, Berger M, Buckner JC, Chang S, Giannini C, Halder C, Kollmeyer TM, Kosel ML, LaChance DH, McCoy L, O'Neill BP, Patoka J, Pico AR, Prados M, Quesenberry C, Rice T, Rynearson AL, Smirnov I, Tihan T, Wiemels J, Yang P, Wiencke JK. Variants in the CDKN2B and RTEL1 genes are associated with high-grade glioma susceptibility. Nat Genet 2009;41:905-8.
93. Laliotis A, Vrekoussis T, Kafousi M, Sanidas E, Askoxilakis J, Melissas J, Mavroudis D, Castanas E, Stathopoulos EN. Immunohistochemical study of pElk-1 expression in human breast cancer: association with breast cancer biologic profile and clinicopathologic features. Breast 2013;22:89-95.
94. Pallai R, Bhaskar A, Sodi V, Rice LM. Ets1 and Elk1 transcription factors regulate cancerous inhibitor of protein phosphatase 2A expression in cervical and endometrial carcinoma cells. Transcription 2012;3:323-35.
95. Shore P, Sharrocks AD. The ETS-domain transcription factors Elk-1 and SAP-1 exhibit differential DNA binding specifitoies. Nucleic Acids Res 1995;23:4698-706.
96. Abern M, Tsivian M, Coogan C, Kaufman H, Polascik T. Characteristics of patients diagnosed with both melanoma and renal cell cancer. Cancer Causes Control 2013;24:1925-33.
97. Farley MN, Schmidt LS, Mester JL, Pena-Llopis S, Pavia-Jimenez A, Christie A, Vocke CD, Ricketts CJ, Peterson J, Middelton L, Kinch L, Grishin N, Merino MJ, Metwalli AR, Xing C, Xie XJ, Dahia PL, Eng C, Linehan WM, Brugarolas J. A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma. Mol Cancer Res 2013;11:1061-71.
98. Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 2003;63:6643-50.
99. Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, Kluijt I, Sijmons RH, Aalfs CM, Wagner A, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gomez Garcia EB, Meijers-Heijboer H, Ten Kate LP, Menko FH, van 't Veer LJ. TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet 2010;47:421-8.
100. Curiel-Lewandrowski C, Speetzen LS, Cranmer L, Warneke JA, Loescher LJ. Multiple primary cutaneous melanomas in Li-Fraumeni syndrome. Arch Dermatol 2011;147:248-50.
101. Bradford PT, Goldstein AM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Pike KM, Raziuddin A, Plona TM, DiGiovanna JJ, Tucker MA, Kraemer KH. Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet 2011;48:168-76.
102. Lauper JM, Krause A, Vaughan TL, Monnat RJ Jr. Spectrum and risk of neoplasia in Werner syndrome: a systematic review. PLoS ONE 2013;8:e59709.
103. Moran A, O'Hara C, Khan S, Shack L, Woodward E, Maher ER, Lalloo F, Evans DG. Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam Cancer 2012;11:235-42.
104. Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 1999;91:1310-16.
105. Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K, American Society of Clinical Oncology. American Society of Clinical Oncology Policy Statement Update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 2010;28: 893-901.
106. Aspinwall LG, Taber JM, Kohlmann W, Leaf SL, Leachman SA. Unaffected family members report improvements in daily routine sun protection 2 years following melanoma genetic testing. Genet Med 2014;16:846-53.
107. Rendleman J, Shang S, Dominianni C, Shields JF, Scanlon P, Adaniel C, Desrichard A, Ma M, Shapiro R, Berman R, Pavlick A, Polsky D, Shao Y, Osman I, Kirchhoff T. Melanoma risk loci as determinants of melanoma recurrence and survival. J Transl Med 2013;11:279.
108. Yin J, Liu H, Liu Z, Wang L-E, Chen WV, Zhu D, Amos CI, Fang S, Lee JE, Wei Q. Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. J Invest Dermatol 2014;135:542-50.