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268 results

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Page 1
Saturation genome editing of BAP1 functionally classifies somatic and germline variants.
Waters AJ, Brendler-Spaeth T, Smith D, Offord V, Tan HK, Zhao Y, Obolenski S, Nielsen M, van Doorn R, Murphy JE, Gupta P, Rowlands CF, Hanson H, Delage E, Thomas M, Radford EJ, Gerety SS, Turnbull C, Perry JRB, Hurles ME, Adams DJ. Waters AJ, et al. Among authors: van doorn r. Nat Genet. 2024 Jul;56(7):1434-1445. doi: 10.1038/s41588-024-01799-3. Epub 2024 Jul 5. Nat Genet. 2024. PMID: 38969833 Free PMC article.
Germline TERT promoter mutations are rare in familial melanoma.
Harland M, Petljak M, Robles-Espinoza CD, Ding Z, Gruis NA, van Doorn R, Pooley KA, Dunning AM, Aoude LG, Wadt KA, Gerdes AM, Brown KM, Hayward NK, Newton-Bishop JA, Adams DJ, Bishop DT. Harland M, et al. Among authors: van doorn r. Fam Cancer. 2016 Jan;15(1):139-44. doi: 10.1007/s10689-015-9841-9. Fam Cancer. 2016. PMID: 26433962 Free PMC article.
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK. Walpole S, et al. Among authors: van doorn r, van poppelen n. J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171. J Natl Cancer Inst. 2018. PMID: 30517737 Free PMC article. Review.
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Dalmasso B, Pastorino L, Nathan V, Shah NN, Palmer JM, Howlie M, Johansson PA, Freedman ND, Carter BD, Beane-Freeman L, Hicks B, Molven A, Helgadottir H, Sankar A, Tsao H, Stratigos AJ, Helsing P, Van Doorn R, Gruis NA, Visser M, Wadt KAW, Mann G, Holland EA, Nagore E, Potrony M, Puig S, Menin C, Peris K, Fargnoli MC, Calista D, Soufir N, Harland M, Bishop T, Kanetsky PA, Elder DE, Andreotti V, Vanni I, Bruno W, Höiom V, Tucker MA, Yang XR, Andresen PA, Adams DJ, Landi MT, Hayward NK, Goldstein AM, Ghiorzo P; GenoMEL; MelaNostrum consortia. Dalmasso B, et al. Among authors: van doorn r. Genet Med. 2021 Nov;23(11):2087-2095. doi: 10.1038/s41436-021-01240-8. Epub 2021 Jul 14. Genet Med. 2021. PMID: 34262154 Free PMC article.
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.
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. Aoude LG, et al. Among authors: van doorn r. J Natl Cancer Inst. 2014 Dec 13;107(2):dju408. doi: 10.1093/jnci/dju408. Print 2015 Feb. J Natl Cancer Inst. 2014. PMID: 25505254 Free PMC article.
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.
Law MH, Bishop DT, Lee JE, Brossard M, Martin NG, Moses EK, Song F, Barrett JH, Kumar R, Easton DF, Pharoah PDP, Swerdlow AJ, Kypreou KP, Taylor JC, Harland M, Randerson-Moor J, Akslen LA, Andresen PA, Avril MF, Azizi E, Scarrà GB, Brown KM, Dębniak 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 JAN, Demenais F, Amos CI, MacGregor S, Iles MM. Law MH, et al. Among authors: van doorn r, van der stoep n. Nat Genet. 2015 Sep;47(9):987-995. doi: 10.1038/ng.3373. Epub 2015 Aug 3. Nat Genet. 2015. PMID: 26237428 Free PMC article.
Genomic analysis and clinical management of adolescent cutaneous melanoma.
Rabbie R, Rashid M, Arance AM, Sánchez M, Tell-Marti G, Potrony M, Conill C, van Doorn R, Dentro S, Gruis NA, Corrie P, Iyer V, Robles-Espinoza CD, Puig-Butille JA, Puig S, Adams DJ. Rabbie R, et al. Among authors: van doorn r. Pigment Cell Melanoma Res. 2017 May;30(3):307-316. doi: 10.1111/pcmr.12574. Epub 2017 Apr 19. Pigment Cell Melanoma Res. 2017. PMID: 28097802 Free PMC article.
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Chau C, van Doorn R, van Poppelen NM, van der Stoep N, Mensenkamp AR, Sijmons RH, van Paassen BW, van den Ouweland AMW, Naus NC, van der Hout AH, Potjer TP, Bleeker FE, Wevers MR, van Hest LP, Jongmans MCJ, Marinkovic M, Bleeker JC, Jager MJ, Luyten GPM, Nielsen M. Chau C, et al. Among authors: van paassen bw, van der hout ah, van doorn r, van den ouweland amw, van poppelen nm, van der stoep n, van hest lp. Cancers (Basel). 2019 Aug 4;11(8):1114. doi: 10.3390/cancers11081114. Cancers (Basel). 2019. PMID: 31382694 Free PMC article.
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.
Yang XR, Rotunno M, Xiao Y, Ingvar C, Helgadottir H, Pastorino L, van Doorn R, Bennett H, Graham C, Sampson JN, Malasky M, Vogt A, Zhu B, Bianchi-Scarra G, Bruno W, Queirolo P, Fornarini G, Hansson J, Tuominen R, Burdett L, Hicks B, Hutchinson A, Jones K, Yeager M, Chanock SJ, Landi MT, Höiom V, Olsson H, Gruis N, Ghiorzo P, Tucker MA, Goldstein AM. Yang XR, et al. Among authors: van doorn r. Hum Genet. 2016 Nov;135(11):1241-1249. doi: 10.1007/s00439-016-1715-1. Epub 2016 Jul 23. Hum Genet. 2016. PMID: 27449771 Free PMC article.
CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe.
Potjer TP, Helgadottir H, Leenheer M, van der Stoep N, Gruis NA, Höiom V, Olsson H, van Doorn R, Vasen HFA, van Asperen CJ, Dekkers OM, Hes FJ; Dutch Working Group for Clinical Oncogenetics. Potjer TP, et al. Among authors: van asperen cj, van doorn r, van der stoep n. J Med Genet. 2018 Oct;55(10):661-668. doi: 10.1136/jmedgenet-2017-105205. Epub 2018 Apr 16. J Med Genet. 2018. PMID: 29661971 Free article.
268 results