Inherited variation in the PARP1 gene : meta-analysis of the BioGenoMEL samples Davies et al Int J Cancer 2014

This forest plot provides evidence in a BioGenoMEL study, that inherited variation in the PARP1 gene modifies the chance of melanoma survival.
Interestingly this genetic variation is associated also with susceptibility but the polymorphism plays opposing roles.

Recent publications

1. O’Shea SJ, Robles-Espinoza CD, McLellan L, Harrigan J, Jacq X, Hewinson J, et al. A population-based analysis of germline BAP1 mutations in melanoma. Hum Mol Genet. 2017.2. Pal A, Potjer TP, Thomsen SK, Ng HJ, Barrett A, Scharfmann R, et al. Loss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans. Diabetes. 2016;65(2):527-33.

3. O’Shea SJ, Mitra A, Graham JL, Charlton R, Adlard J, Merchant W, et al. Histopathology of melanocytic lesions in a family with an inherited BAP1 mutation. J Cutan Pathol. 2016;43(3):287-9.

4. O’Shea SJ, Davies JR, Newton-Bishop JA. Vitamin D, vitamin A, the primary melanoma transcriptome and survival. Br J Dermatol. 2016;175 Suppl 2:30-4.

5. Lubbe SJ, Escott-Price V, Brice A, Gasser T, Pittman AM, Bras J, et al. Rare variants analysis of cutaneous malignant melanoma genes in Parkinson’s disease. Neurobiol Aging. 2016.

6. Lauss M, Nsengimana J, Staaf J, Newton-Bishop J, Jonsson G. Consensus of Melanoma Gene Expression Subtypes Converges on Biological Entities. J Invest Dermatol. 2016.

7. Harland M, Petljak M, Robles-Espinoza CD, Ding Z, Gruis NA, van Doorn R, et al. Germline TERT promoter mutations are rare in familial melanoma. Fam Cancer. 2016;15(1):139-44.

8. Andreotti V, Bisio A, Bressac-de Paillerets B, Harland M, Cabaret O, Newton-Bishop J, et al. The CDKN2A/p16(INK) (4a) 5’UTR sequence and translational regulation: impact of novel variants predisposing to melanoma. Pigment Cell Melanoma Res. 2016;29(2):210-21.

9. Tuominen R, Jewell R, van den Oord JJ, Wolter P, Stierner U, Lindholm C, et al. MGMT promoter methylation is associated with temozolomide response and prolonged progression-free survival in disseminated cutaneous melanoma. Int J Cancer. 2015;136(12):2844-53.

10. Sargen MR, Kanetsky PA, Newton-Bishop J, Hayward NK, Mann GJ, Gruis NA, et al. Histologic features of melanoma associated with CDKN2A genotype. J Am Acad Dermatol. 2015;72(3):496-507 e7.

11. Ribero S, Davies JR, Requena C, Carrera C, Glass D, Rull R, et al. High nevus counts confer a favorable prognosis in melanoma patients. Int J Cancer. 2015;137(7):1691-8.

12. Nsengimana J, Laye J, Filia A, Walker C, Jewell R, Van den Oord JJ, et al. Independent replication of a melanoma subtype gene signature and evaluation of its prognostic value and biological correlates in a population cohort. Oncotarget. 2015;6(13):11683-93.

13. Newton-Bishop JA, Davies JR, Latheef F, Randerson-Moor J, Chan M, Gascoyne J, et al. 25-Hydroxyvitamin D2 /D3 levels and factors associated with systemic inflammation and melanoma survival in the Leeds Melanoma Cohort. Int J Cancer. 2015;136(12):2890-9.

14. Jewell R, Elliott F, Laye J, Nsengimana J, Davies J, Walker C, et al. The clinicopathological and gene expression patterns associated with ulceration of primary melanoma. Pigment Cell Melanoma Res. 2015;28(1):94-104.

15. Gao L, van den Hurk K, Nsengimana J, Laye JP, van den Oord JJ, Beck S, et al. Prognostic Significance of Promoter Hypermethylation and Diminished Gene Expression of SYNPO2 in Melanoma. J Invest Dermatol. 2015;135(9):2328-31.

16. Davies JR, Chang YM, Bishop DT, Armstrong BK, Bataille V, Bergman W, et al. Development and validation of a melanoma risk score based on pooled data from 16 case-control studies. Cancer Epidemiol Biomarkers Prev. 2015;24(5):817-24.

17. Aoude LG, Pritchard AL, Robles-Espinoza CD, Wadt K, Harland M, Choi J, et al. Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma. J Natl Cancer Inst. 2015;107(2).

18. Andreotti V, Bisio A, Bressac-de Paillerets B, Harland M, Cabaret O, Newton-Bishop J, et al. The CDKN2A/p16 5’UTR sequence and translational regulation: impact of novel variants predisposing to melanoma. Pigment Cell Melanoma Res. 2015.

19. Zebary A, Omholt K, van Doorn R, Ghiorzo P, Harbst K, Hertzman Johansson C, et al. Somatic BRAF and NRAS Mutations in Familial Melanomas with Known Germline CDKN2A Status: A GenoMEL Study. J Invest Dermatol. 2014;134(1):287-90.

20. Staaf J, Harbst K, Lauss M, Ringner M, Masback A, Howlin J, et al. Primary melanoma tumors from CDKN2A mutation carriers do not belong to a distinct molecular subclass. J Invest Dermatol. 2014;134(12):3000-3.

21. Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, et al. POT1 loss-of-function variants predispose to familial melanoma. Nat Genet. 2014;46(5):478-81.

22. Harland M, Cust AE, Badenas C, Chang YM, Holland EA, Aguilera P, et al. Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom. Hereditary cancer in clinical practice. 2014;12(1):20.

23. Davies JR, Jewell R, Affleck P, Anic GM, Randerson-Moor J, Ozola A, et al. Inherited variation in the PARP1 gene and survival from melanoma. Int J Cancer. 2014;135(7):1625-33.

24. Puntervoll HE, Yang XR, Vetti HH, Bachmann IM, Avril MF, Benfodda M, et al. Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. J Med Genet. 2013;50(4):264-70.

25. Ogbah Z, Badenas C, Harland M, Puig-Butille JA, Elliot F, Bonifaci N, et al. Evaluation of PAX3 genetic variants and nevus number. Pigment Cell Melanoma Res. 2013;26(5):666-76.

26. Field S, Elliott F, Randerson-Moor J, Kukalizch K, Barrett JH, Bishop DT, et al. Do vitamin A serum levels moderate outcome or the protective effect of vitamin D on outcome from malignant melanoma? Clin Nutr. 2013;32(6):1012-6.

27. Davies JR, Field S, Randerson-Moor J, Harland M, Kumar R, Anic GM, et al. An inherited variant in the gene coding for vitamin D-binding protein and survival from cutaneous melanoma: a BioGenoMEL study. Pigment Cell Melanoma Res. 2013.

28. Cust AE, Goumas C, Vuong K, Davies JR, Barrett JH, Holland EA, et al. MC1R genotype as a predictor of early-onset melanoma, compared with self-reported and physician-measured traditional risk factors: an Australian case-control-family study. BMC Cancer. 2013;13(1):406.

29. Storr SJ, Safuan S, Mitra A, Elliott F, Walker C, Vasko MJ, et al. Objective assessment of blood and lymphatic vessel invasion and association with macrophage infiltration in cutaneous melanoma. Mod Pathol. 2012;25(4):493-504.

30. Jewell R, Mitra A, Conway C, Iremonger J, Walker C, de Kort F, et al. Identification of differentially expressed genes in matched formalin-fixed paraffin-embedded primary and metastatic melanoma tumor pairs. Pigment cell & melanoma research. 2012;25(2):284-6.

31. Jewell R, Chambers P, Harland M, Laye J, Conway C, Mitra A, et al. Clinicopathologic features of V600E and V600K melanoma–letter. Clin Cancer Res. 2012;18(24):6792; author’s reply p 3.

32. Elliott F, Suppa M, Chan M, Leake S, Karpavicius B, Haynes S, et al. Relationship between sunbed use and melanoma risk in a large case-control study in the United Kingdom. Int J Cancer. 2012;130(12):3011-3.

33. Davies JR, Randerson-Moor J, Kukalizch K, Harland M, Kumar R, Madhusudan S, et al. Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study. Pigment Cell Melanoma Res. 2012;25(3):384-94.

34. Branstrom R, Kasparian NA, Affleck P, Tibben A, Chang YM, Azizi E, et al. Perceptions of genetic research and testing among members of families with an increased risk of malignant melanoma. Eur J Cancer. 2012.

35. Yokoyama S, Woods SL, Boyle GM, Aoude LG, MacGregor S, Zismann V, et al. A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. Nature. 2011;480(7375):99-103.

36. van der Ploeg AP, van Akkooi AC, Rutkowski P, Nowecki ZI, Michej W, Mitra A, et al. Prognosis in Patients With Sentinel Node-Positive Melanoma Is Accurately Defined by the Combined Rotterdam Tumor Load and Dewar Topography Criteria. J Clin Oncol. 2011.

37. Schoof N, Iles MM, Bishop DT, Newton-Bishop JA, Barrett JH. Pathway-based analysis of a melanoma genome-wide association study: analysis of genes related to tumour-immunosuppression. PLoS One. 2011;6(12):e29451.

38. Newton-Bishop JA, Chang YM, Elliott F, Chan M, Leake S, Karpavicius B, et al. Relationship between sun exposure and melanoma risk for tumours in different body sites in a large case-control study in a temperate climate. Eur J Cancer. 2011;47(5):732-41.

39. Macgregor S, Montgomery GW, Liu JZ, Zhao ZZ, Henders AK, Stark M, et al. Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. Nature genetics. 2011.

40. Davies JR, Chang YM, Snowden H, Chan M, Leake S, Karpavicius B, et al. The determinants of serum vitamin D levels in participants in a melanoma case-control study living in a temperate climate. Cancer causes & control : CCC. 2011.

41. Newton-Bishop JA, Chang YM, Iles MM, Taylor JC, Bakker B, Chan M, et al. Melanocytic nevi, nevus genes, and melanoma risk in a large case-control study in the United Kingdom. Cancer Epidemiol Biomarkers Prev. 2010;19(8):2043-54.

J Invest Dermatol. 2010 Apr 1. [Epub ahead of print]
MicroRNA Expression Profiles Associated with Mutational Status and Survival in Malignant Melanoma.
Caramuta S, Egyházi S, Rodolfo M, Witten D, Hansson J, Larsson C, Lui WO.
Available at:

Genes Chromosomes Cancer. 2010 May;49(5):425-38.
Deletion at chromosome arm 9p in relation to BRAF/NRAS mutations and prognostic significance for primary melanoma.
Conway C, Beswick S, Elliott F, Chang YM, Randerson-Moor J, Harland M, Affleck P, Marsden J, Sanders DS, Boon A, Knowles MA, Bishop DT Newton-Bishop JA
Full text available for free at:

Clin Cancer Res. 2009 Nov 15;15(22):6939-46. Epub 2009 Nov 3.
Gene expression profiling of paraffin-embedded primary melanoma using the DASL assay identifies increased osteopontin expression as predictive of reduced relapse-free survival.
Conway C, Mitra A, Jewell R, Randerson-Moor J, Lobo S, Nsengimana J, Edward S, Sanders DS, Cook M, Powell B, Boon A, Elliott F, de Kort F,Knowles MA, Bishop DT, Newton-Bishop J.
Available at:

J Clin Oncol. 2009 Nov 10;27(32):5439-44. Epub 2009 Sep 21.
Serum 25-hydroxyvitamin D3 levels are associated with breslow thickness at presentation and survival from melanoma.
Newton-Bishop JA, Beswick S, Randerson-Moor J, Chang YM, Affleck P, Elliott F, Chan M, Leake S, Karpavicius B, Haynes S, Kukalizch K, Whitaker L, Jackson S, Gerry E, Nolan C, Bertram C, Marsden J, Elder DE, Barrett JH, Bishop DT.
Available at:

Mutat Res. 2009 Feb 10;661(1-2):78-84. Epub 2008 Nov 27.
Single nucleotide polymorphisms in DNA repair genes XRCC1 and APEX1 in progression and survival of primary cutaneous melanoma patients.
Figl A, Scherer D, Nagore E, Bermejo JL, Dickes E, Thirumaran RK, Gast A, Hemminki K, Kumar R, Schadendorf D.
Abstract available at:

Eur J Cancer. 2008 Aug;44(12):1717-25. Epub 2008 Jul 2.
Environmental risk factors for relapse of melanoma.
Beswick S, Affleck P, Elliott F, Gerry E, Boon A, Bale L, Nolan C, Barrett JH, Bertram C, Marsden J, Bishop DT, Newton-Bishop JA.
Full text available for free at:

J Invest Dermatol. 2006 Oct;126(10):2242-6. Epub 2006 May 11.
The EGF A61G polymorphism is associated with disease-free period and survival in malignant melanoma.
Okamoto I, Roka F, Krögler J, Endler G, Kaufmann S, Tockner S, Marsik C, Jilma B, Mannhalter C, Wagner O, Pehamberger H.
Full text available for free at:

Clin Cancer Res. 2005 Apr 15;11(8):2991-7.
Biallelic deletions in INK4 in cutaneous melanoma are common and associated with decreased survival.
Grafström E, Egyházi S, Ringborg U, Hansson J, Platz A.
Full text available for free at:

Cancer. 2004 Nov 1;101(9):2067-78.
Invasive cutaneous malignant melanoma in Sweden, 1990-1999. A prospective, population-based study of survival and prognostic factors.
Lindholm C, Andersson R, Dufmats M, Hansson J, Ingvar C, Möller T, Sjödin H, Stierner U, Wagenius G; Swedish Melanoma Study Group.
Full text available for free at: