German Cancer Research Center

Molecular Genetic Epidemiology

Group Leader

Professor Rajiv Kumar
Division of Molecular Genetic Epidemiology
German Cancer Research Center
69120 Heidelberg, Germany
Email: r.kumar@dkfz.de

Group Members

Dr Barbara Heidenreich
Dr Sivaramakrishna Rachakona
Haiying Kong
Evegynia Denisova

Research

The group at the Division of Molecular Genetic Epidemiology has been conducting research on somatic and germline genetics of different cancer with particular emphasis on melanoma and non-melanoma skin cancers.

Melanoma Research

In the field of melanoma our major contribution has been the discovery of mutations in the promoter region of the gene encoding reverse transcriptase catalytic subunit of telomerase. The initial discovery came through study of a multigenerational melanoma pedigree followed by discovery of related somatic mutations. The somatic mutations in the TERT promoter have now been shown to represent major genetic alterations not only in melanoma but also in many different cancers. We have shown that besides being the most common mutations in melanoma, the TERT promoter mutations also associate with markers of poor prognosis, increased growth rate and poor disease free and melanoma specific survival.

The group is an active participant in GENOMEL studies on the role of genetic variants in melanoma susceptibility and survival in melanoma. The group has participated in a number GWAS studies on melanoma and non-melanoma skin cancers.

Publications

  1. Vallarelli AF, Rachakonda PS, André J, Heidenreich B, Riffaud L, Bensussan A, Kumar R, Dumaz N. TERT promoter mutations in melanoma render TERT expression dependent on MAPK pathway activation. Oncotarget. 2016 Jul 16. doi: 10.18632/oncotarget.10634.
  1. Nagore E, Heidenreich B, Rachakonda S, Garcia-Casado Z, Requena C, Soriano V, Frank C, Traves V, Quecedo E, Sanjuan-Gimenez J, Hemminki K, Landi MT, Kumar R. TERT promoter mutations in melanoma survival. Int J Cancer. 2016;139:75-84.
  1. Xie H, Rachakonda PS, Heidenreich B, Nagore E, Sucker A, Hemminki K, Schadendorf D, Kumar R. Mapping of deletion breakpoints at the CDKN2A locus in melanoma: detection of MTAP-ANRIL fusion transcripts. Oncotarget. 2016;7:16490-504.
  1. Vijayakrishnan J, Kumar R, Henrion MY, Moorman AV, Rachakonda PS, Hosen I, da Silva Filho MI, Holroyd A, Dobbins SE, Koehler R, Thomsen H, Irving JA, Allan JM, Lightfoot T, Roman E, Kinsey SE, Sheridan E, Thompson PD, Hoffmann P, Nöthen MM, Heilmann-Heimbach S, Karl-Heinz J, Greaves M, Harrison CJ, Bartram CR, Schrappe M, Stanulla M, Hemminki K, Houlston RS. A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1. Leukemia. 2016 Oct 3. doi: 10.1038/leu.2016.271. [Epub ahead of print]
  1. Willmes C, Kumar R, Becker JC, Fried I, Rachakonda PS, Poppe LM, Hesbacher S, Schadendorf D, Sucker A, Schrama D, Ugurel S. SERPINB1 expression is predictive for sensitivity and outcome of cisplatin-based chemotherapy in melanoma. Oncotarget. 2016;7(9):10117-32. doi: 10.18632/oncotarget.6956.
  1. Espinosa P, Pfeiffer R M, Garcia-Casado Z, Requena C, Landi MT, Kumar R, Nagore E. Risk factors for keratinocyte skin cancer in patients diagnosed with melanoma, a large retrospective study. Eur J Cancer. 2016;53:115-24.
  1. Nagore E, Heidenreich B, Requena C, Casado ZG, Martorell-Calatayud A, Pont-Sanjuan V, Ana JI, Kumar R. TERT promoter mutations associate with fast growing melanoma. Pigment Cell Melanoma Res. 2016;29(2):236-8.
  1. Puig S, Potrony M, Cuellar F, Puig-Butille JA, Carrera C, Aguilera P, Nagore E, Garcia-Casado Z, Requena C, Kumar R, Landman G, Costa Soares de Sá B, Gargantini Rezze G, Facure L, de Avila AL, Achatz MI, Carraro DM, Duprat Neto JP, Grazziotin TC, Bonamigo RR, Rey MC, Balestrini C, Morales E, Molgo M, Bakos RM, Ashton-Prolla P, Giugliani R, Larre Borges A, Barquet V, Pérez J, Martínez M, Cabo H, Cohen Sabban E, Latorre C, Carlos-Ortega B, Salas-Alanis JC, Gonzalez R, Olazaran Z, Malvehy J, Badenas C. Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. Genet Med. 18(7):727-36. doi: 10.1038/gim.2015.160.
  1. Laugier F, Finet-Benyair A, André J, Rachakonda PS, Kumar R, Bensussan A, Dumaz N. RICTOR involvement in the PI3K/AKT pathway regulation in melanocytes and melanoma. Oncotarget. 2015;6(29):28120-31.
  1. Vijayakrishnan J, Henrion M, Moorman AV, Fiege B, Kumar R, Inacio da Silva Filho M, Holroyd A, Koehler R, Thomsen H, Irving JA, Allan JM, Lightfoot T, Roman E, Kinsey SE, Sheridan E, Thompson PD, Hoffmann P, Nöthen MM, Mühleisen TW, Eisele L, Bartram CR, Schrappe M, Greaves M, Hemminki K, Harrison CJ, Stanulla M, Houlston RS. The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A. Sci Rep 2015;5:15065.
  1. Denisova E, Heidenreich B, Nagore E, Rachakonda PS, Hosen I, Akrap I, Traves V, García-Casado Z, López-Guerrero JA, Requena C, Sanmartin O, Serra-Guillén C, Llombart B, Guillén C, Ferrando J, Gimeno E, Nordheim A, Hemminki K, Kumar R. Frequent DPH3 promoter mutations in skin cancers. Oncotarget 2015;6(34):35922-30.
  1. Law MH, Bishop DT, Lee JE, Brossard M, Martin NG, Moses EK, Song F, Barrett JH, Kumar R, Easton DF, Pharoah PD, Swerdlow AJ, Kypreou KP, Taylor JC, Harland M, Randerson-Moor J, Akslen LA, Andresen PA, Avril MF, Azizi E, Scarrà GB, Brown KM, Dȩbniak T, Duffy DL, Elder DE, Fang S, Friedman E, Galan P, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Helsing P, Hočevar M, Höiom V, Ingvar C, Kanetsky PA, Chen WV; GenoMEL Consortium; Essen-Heidelberg Investigators; SDH Study Group; Q-MEGA and QTWIN Investigators; AMFS Investigators; ATHENS Melanoma Study Group, Landi MT, Lang J, Lathrop GM, Lubiński J, Mackie RM, Mann GJ, Molven A, Montgomery GW, Novaković S, Olsson H, Puig S, Puig-Butille JA, Qureshi AA, Radford-Smith GL, van der Stoep N, van Doorn R, Whiteman DC, Craig JE, Schadendorf D, Simms LA, Burdon KP, Nyholt DR, Pooley KA, Orr N, Stratigos AJ, Cust AE, Ward SV, Hayward NK, Han J, Schulze HJ, Dunning AM, Bishop JA, Demenais F, Amos CI, MacGregor S, Iles MM. Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nat Genet 2015;47(9):987-95.
  1. Tagliabue E, Fargnoli MC, Gandini S, Maisonneuve P, Liu F, Kayser M, Nijsten T, Han J, Kumar R, Gruis NA, Ferrucci L, Branicki W, Dwyer T, Blizzard L, Helsing P, Autier P, Garcia-Borron JC, Kanetsky PA, Landi MT, Little J, Newton-Bishop J, Sera F, Raimondi S: MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project. British Journal of Cancer 2015;113(2),354-363.
  1. Simon M, Hosen I, Gousias K, Rachakonda S, Heidenreich B, Gessi M, Schramm J, Hemminki K, Waha A, Kumar R. TERT promoter mutations: a novel independent prognostic factor in primary glioblastomas. Neuro Oncol 2015;17(1):45-52.
  1. Hemminki K, Rachakonda S, Musak L, Vymetalkova V, Halasova E, Försti A, Vodickova L, Buchancova J, Vodicka P, Kumar R. Telomere length in circulating lymphocytes: Association with chromosomal aberrations. Genes Chromosomes Cancer 2015;54(3):194-6.
  1. Engström KS, Vahter M, Fletcher T, Leonardi G, Goessler W, Gurzau E, Koppova K, Rudnai P, Kumar R, Broberg K. Genetic variation in arsenic (+3 oxidation state) methyltransferase (AS3MT), arsenic metabolism and risk of basal cell carcinoma in a European population. Environ Mol Mutagen. 2015;56(1):60-9.
  1. Stacey SN, Helgason H, Gudjonsson SA, Thorleifsson G, Zink F, Sigurdsson A, Kehr B, Gudmundsson J, Sulem P, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Fuentelsaz V, Corredera C, Gilaberte Y, Grasa M, Planelles D, Sanmartin O, Rudnai P, Gurzau E, Koppova K, Nexø BA, Tjønneland A, Overvad K, Jonasson JG, Tryggvadottir L, Johannsdottir H, Kristinsdottir AM, Stefansson H, Masson G, Magnusson OT, Halldorsson BV, Kong A, Rafnar T, Thorsteinsdottir U, Vogel U, Kumar R, Nagore E, Mayordomo JI, Gudbjartsson DF, Olafsson JH, Stefansson K. New basal cell carcinoma susceptibility loci. Nat Commun. 2015;6:6825.
  1. Montero I, Requena C, Traves V, García-Casado Z, Kumar R, Nagore E. Age-related characteristics of cutaneous melanoma in a Spanish Mediterranean population. Int J Dermatol. 2015;54(7):778-84.
  1. Pasquali E, García-Borrón 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; M-SKIP Study Group. 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(3):618-31.
  1. Hosen I, Rachakonda PS, Heidenreich B, de Verdier PJ, Ryk C, Steineck G, Hemminki K, Kumar R. Mutations in TERT promoter and FGFR3 and telomere length in bladder cancer. Int J Cancer. 2015;137(7):1621-9.
  1. Heidenreich B, Rachakonda PS, Hosen I, Volz F, Hemminki K, Weyerbrock A, Kumar R. TERT promoter mutations and telomere length in adult malignant gliomas and recurrences. Oncotarget. 2015;6(12):10617-33.
  1. Ibarrola-Villava M, Kumar R, Nagore E, Benfodda M, Guedj M, Gazal S, Hu HH, Guan J, Rachkonda PS, Descamps V, Basset-Seguin N, Bensussan A, Bagot M, Saiag P, Schadendorf D, Martin-Gonzalez M, Mayor M, Grandchamp B, Ribas G, Nadem S. Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition. Int J Cancer. 2015;136(9):2109-19.
  1. García-Casado Z, Traves V, Bañuls J, Niveiro M, Gimeno-Carpio E, Jimenez-Sanchez AI, Moragón M, Onrubia JA, Oliver V, Kumar R, Nagore E. BRAF, NRAS and MC1R status in a prospective series of primary cutaneous melanoma. Br J Dermatol. 2015;172(4):1128-31.
  1. Hosen I, Rachakonda PS, Heidenreich B, Sitaram RT, Ljungberg B, Roos G, Hemminki K, Kumar R. TERT promoter mutations in clear cell renal cell carcinoma. Int J Cancer. 2015;136(10):2448-52.
  1. Nagore E, Heidenreich B, Rachakonda S, Garcia-Casado Z, Requena C, Soriano V, Frank C, Traves V, Quecedo E, Sanjuan-Gimenez J, Hemminki K, Teresa Landi M, Kumar R. TERT promoter mutations in melanoma survival. Int J Cancer. 2016;139(1):75-84. doi: 10.1002/ijc.30042.
  1. Hu HH; Kannengiesser C; Lesage S; Andre J; Mourah S; Michel L; Descamps V; Basset- Seguin N; Bagot M; Bensussan A; Lebbé C; Deschamps L; Saiag P; Leccia MT; Tsalamlal A; Kumar R; Klebe S; Grandchamp B; Andrieu-Abadie  N; Thomas L; Brice A; Nicolas Dumaz N; Soufir N. PARKIN inactivation link Parkinson’s disease to melanoma. J Natl Cancer Inst. 2015;108(3).
  1. Xie H, Rachakonda PS, Heidenreich B, Nagore E, Sucker A, Hemminki K, Schadendorf D, Kumar R. Mapping of deletion breakpoints at the CDKN2A locus in melanoma: detection of MTAP-ANRIL fusion transcripts. Oncotarget. 2016 Feb 19. doi: 10.18632/oncotarget.7503.
  1. Heidenreich B, Nagore E, Rachakonda PS, Garcia-Casado G, Requena C, Traves V, Becker J, Soufir N, Hemminki K, Kumar R. Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma. Nat Commun. 2014 Feb 26;5:3401. doi: 10.1038/ncomms4401.
  1. Davies JR, Jewell R, Affleck P, Anic GM, Randerson-Moor J, Ozola A, Egan KM, Elliott F, García-Casado Z, Hansson J, Harland M, Höiom V, Jian G, Jönsson G, Kumar R, Nagore E, Wendt J, Olsson H, Park JY, Patel P, Pjanova D, Puig S, Schadendorf D, Rachakonda PS, Snowden H, Stratigos AJ, Bafaloukos D, Ogbah Z, Sucker A, Van den Oord JJ, Van Doorn R, Walker C, Okamoto I, Wolter P, Barrett JH, Bishop DT, Newton-Bishop J.Inherited variation in the PARP1 gene and survival from melanoma. Int J Cancer. 2014 Feb 18. doi: 10.1002/ijc.28796.
  1. Heidenreich B, Rachakonda PS, Hemminki K, Kumar R. TERT promoter mutations in cancer development. Current Opinion in Genetics and Development, 2014; 24:30-37.
  1. Stacey SN, Sulem P, Gudbjartsson DF, Jonasdottir A, Thorleifsson G, Gudjonsson SA, Masson G, Gudmundsson J, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Fuentelsaz V, Corredera C, Grasa M, Planelles D, Sanmartin O, Rudnai P, Gurzau E, Koppova K, Hemminki K, Nexø BA, Tjønneland A, Overvad K, Johannsdottir H, Helgadottir HT, Thorsteinsdottir U, Kong A, Vogel U, Kumar R, Nagore E, Mayordomo JI, Rafnar T, Olafsson JH, Stefansson K. Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. Hum Mol Genet. 2014;23(11):3045-53. PMID: 24403052
  1. Blank S, Rachakonda S, Keller G, Weichert W, Lordick F, Langer R, Springfeld C, Bruckner T, Becker K, Kumar R, Ott K. retrospective comparative exploratory study on two Methylentetrahydrofolate Reductase (MTHFR) polymorphisms in esophagogastric cancer: the A1298C MTHFR polymorphism is an independent prognostic factor only in neoadjuvantly treated gastric cancer patients. BMC Cancer. 2014;14(1):58.
  1. Peña-Vilabelda MM, García-Casado Z, Requena C, Traves V, López-Guerrero JA, Guillén C, Kumar R, Nagore E. Clinical Characteristics of Patients With Cutaneous Melanoma According to Variants in the Melanocortin 1 Receptor Gene. Actas Dermosifiliogr. 2014;105:159-71.
  1. Davies JR, Field S, Randerson-Moor J, Harland M, Kumar R, Anic GM, Nagore E, Hansson J, Höiom V, Jönsson G, Gruis NA, Park JY, Jian G, Rachakonda PS, Wendt J, Pjanova D, Puig S, Schadendorf D, Okamoto I, Olsson H, Affleck P, García-Casado Z, Puig-Butille JA, Stratigos AJ, Kodela E, Donina S, Sucker A, Hosen I, Egan KM, Barrett JH, van Doorn R, Bishop DT, Newton-Bishop J. An inherited variant in the gene coding for vitamin D binding protein and survival from cutaneous melanoma: a BioGenoMEL study. Pigment Cell Melanoma Res. 2014; 27:234-43.
  1. Rachakonda PS, Hosen I, de Verdier PJ, Fallah M, Heidenreich B, Ryk C, Wiklund NP, Steineck G, Schadendorf D, Hemminki K, Kumar R. TERT promoter mutations in bladder cancer affect patient survival and disease recurrence through modification by a common polymorphism. Proc Natl Acad Sci U S A. 2013;110:17426-31.
  1. Migliorini G, Fiege B, Hosking FJ, Ma Y, Kumar R, Sherborne AL, da Silva Filho MI, Vijayakrishnan J, Koehler R, Thomsen H, Irving JA, Allan JM, Lightfoot T, Roman E, Kinsey SE, Sheridan E, Thompson P, Hoffmann P, Nöthen MM, Mühleisen TW, Eisele L, Zimmermann M, Bartram CR, Schrappe M, Greaves M, Stanulla M, Hemminki K, Houlston RS. Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. Blood. 2013;122:3298-307.
  1. 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.
  1. Dutruel C, Bergmann F, Rooman I, Zucknick M, Weichenhan D, Geiselhart L, Kaffenberger T, Rachakonda PS, Bauer A, Giese N, Hong C, Xie H, Costello JF, Hoheisel J, Kumar R, Rehli M, Schirmacher P, Werner J, Plass C, Popanda O, Schmezer P. Early epigenetic downregulation of WNK2 kinase during pancreatic ductal adenocarcinoma development. Oncogene. 2014; 33(26):3401-10. doi: 10.1038/onc.2013.312
  1. Puig-Butillé JA, Carrera C, Kumar R, Garcia-Casado Z, Badenas C, Aguilera P, Malvehy J, Nagore E, Puig S. Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with Lentigo Maligna Melanoma in a Mediterranean population. Br J Dermatol. 2013; 169:804-11
  1. Surdu S, Fitzgerald EF, Bloom MS, Boscoe FP, Carpenter DO, Haase RF, Gurzau E, Rudnai P, Koppova K, Févotte J, Vahter M, Leonardi G, Goessler W, Kumar R, Fletcher T. Occupational Exposure to Ultraviolet Radiation and Risk of Non-Melanoma SkinCancer in a Multinational European Study. PLoS ONE 8(4): e62359. doi:10.1371/journal.pone.0062359
  1. Surdu S, Fitzgerald EF, Bloom MS, Boscoe FP, Carpenter DO, Haase RF, Gurzau E, Rudnai P, Koppova K, Févotte J, Vahter M, Leonardi G, Goessler W, Kumar R, Fletcher T. Occupational exposure to arsenic and risk of non-melanoma skin cancer in a multinational European study. Int J Cancer. 2013; 133:2182-91.
  1. 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.
  1. Rachakonda S, Bauer A, Xie H, Campa D, Rizzato C, Canzian F, Beghelli S, Greenhalf W, Costello E, Schanne M, Heller A, Scarpa A, Neoptolemos JP, Werner J, Buchler M, Hoheisel J, Hemminki K, Giese N, Kumar R. Somatic Mutations in Exocrine Pancreatic Tumors: Association with Patient Survival. PLoS ONE. 2013;8(4): e60870.
  1. Maccioni L, Rachakonda PS, Scherer D, Bermejo JL, Planelles D, Requena C, Hemminki K, Nagore E, Kumar R. Variants at chromosome 20 (ASIP locus) and melanoma risk. Int J Cancer. Int J Cancer. 2013;132:42-54
  1. Lenci RE, Bevier M, Brandt A, Bermejo JL, Sucker A, Moll I, Planelles D, Requena C, Nagore E, Hemminki K, Schadendorf D, Kumar R. Influence of genetic variants in type I interferon genes on melanoma survival and therapy. PLoS One. 2012;7(11):e50692. doi: 10.1371/journal.pone.0050692.
  1. Slyskova J, Korenkova V, Collins AR, Prochazka P, Vodickova L, Svec J, Lipska L, Levy M, Schneiderova M, Liska V, Holubec L, Kumar R, Soucek P, Naccarati A, Vodicka P. Functional, genetic and epigenetic aspects of base and nucleotide excision repair in colorectal carcinomas. Clin Cancer Res. 2012;18:5878-87.
  1. Canelas MM, Bermejo JL, Landi MT, Requena C, Guillen C, Kumar R, Nagore E. Characterization of nonacral melanoma patients without typical risk factors. Melanoma Res. 2012;22:316-9.
  1. Raimondi S, Gandini S, Fargnoli MC, Bagnardi V, Maisonneuve P, Specchia C, Kumar R, Nagore E, Han J, Hansson J, Kanetsky PA, Ghiorzo P, Gruis NA, Dwyer T, Blizzard L, Fernandez-de-Misa R, Branicki W, Debniak T, Morling N, Landi MT, Palmieri G, Ribas G, Stratigos A, Cornelius L, Motokawa T, Anno S, Helsing P, Wong TH, Autier P, García-Borrón JC, Little J, Newton-Bishop J, Sera F, Liu F, Kayser M, Nijsten T, Study Group G. Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies. BMC Med Res Methodol. 2012;12:116.
  1. Davies JR, Randerson-Moor J, Kukalizch K, Harland M, Kumar R, Madhusudan S, Nagore E, Hansson J, Höiom V, Ghiorzo P, Gruis NA, Kanetsky PA, Wendt J, Pjanova D, Puig S, Saiag P, Schadendorf D, Soufir N, Okamoto I, Affleck P, García-Casado Z, Ogbah Z, Ozola A, Queirolo P, Sucker A, Barrett JH, van Doorn R, Bishop DT, Newton-Bishop J. Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study. Pigment Cell Melanoma Res. 2012;25:384-94.
  1. Pardini B, Naccarati A, Vodicka P, Kumar R. Gene expression variations: potentialities of master regulator polymorphisms in colorectal cancer risk. Mutagenesis. 2012;27:161-7.
  1. Naccarati A, Polakova V, Pardini B, Vodickova L, Hemminki K, Kumar R, Vodicka P. Mutations and polymorphisms in TP53 gene–an overview on the role in colorectal cancer. Mutagenesis. 2012;27:211-8.
  1. Leonardi G, Vahter M, Clemens F, Goessler W, Gurzau E, Hemminki K, Hough R, Koppova K, Kumar R, Rudnai P, Surdu S, Fletcher T. Arsenic and Basal Cell Carcinoma in Areas of Hungary, Romania, and Slovakia: A Case-Control Study. Environ Health Perspect. 2012;120:721-6.
  1. Lenci RE, Rachakonda PS, Kubarenko AV, Weber AN, Brandt A, Gast A, Sucker A, Hemminki K, Schadendorf D, Kumar R. Integrin genes and susceptibility to human melanoma. Mutagenesis. 2012;27:211-8.
  1. Martino A, Campa D, Buda G, Sainz J, García-Sanz R, Jamroziak K, Reis RM, Weinhold N, Jurado M, Ríos R, Szemraj-Rogucka Z, Marques H, Szemraj J, Stein A, Kumar R, Orciuolo E, Gemignani F, Landi S, Goldschmidt H, Petrini M, Dumontet C, Canzian F, Rossi AM. Polymorphisms in xenobiotic transporters ABCB1, ABCG2, ABCC2, ABCC1, ABCC3 and multiple myeloma risk: a case-control study in the context of the International Multiple Myeloma rESEarch (IMMEnSE) consortium. Leukemia. 2012;26:1419-22.