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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
PLoS One. 2018 Apr 11;13(4):e0194098. doi: 10.1371/journal.pone.0194098. eCollection 2018.
PLoS One. 2018.
PMID: 29641532
Free PMC article.
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: howlie m.
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.
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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: howlie m.
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.
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Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma.
Nathan V, Johansson PA, Palmer JM, Howlie M, Hamilton HR, Wadt K, Jönsson G, Brooks KM, Pritchard AL, Hayward NK.
Nathan V, et al. Among authors: howlie m.
Pigment Cell Melanoma Res. 2019 Nov;32(6):854-863. doi: 10.1111/pcmr.12804. Epub 2019 Jul 6.
Pigment Cell Melanoma Res. 2019.
PMID: 31233279
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Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.
Johansson PA, Nathan V, Bourke LM, Palmer JM, Zhang T, Symmons J, Howlie M, Patch AM, Read J, Holland EA, Schmid H, Warrier S, Glasson W, Höiom V, Wadt K, Jönsson G, Olsson H, Ingvar C, Mann G, Brown KM, Hayward NK, Pritchard AL.
Johansson PA, et al. Among authors: howlie m.
Melanoma Res. 2019 Oct;29(5):483-490. doi: 10.1097/CMR.0000000000000613.
Melanoma Res. 2019.
PMID: 31464824
Free PMC article.
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Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours.
Johansson PA, Brooks K, Newell F, Palmer JM, Wilmott JS, Pritchard AL, Broit N, Wood S, Carlino MS, Leonard C, Koufariotis LT, Nathan V, Beasley AB, Howlie M, Dawson R, Rizos H, Schmidt CW, Long GV, Hamilton H, Kiilgaard JF, Isaacs T, Gray ES, Rolfe OJ, Park JJ, Stark A, Mann GJ, Scolyer RA, Pearson JV, van Baren N, Waddell N, Wadt KW, McGrath LA, Warrier SK, Glasson W, Hayward NK.
Johansson PA, et al. Among authors: howlie m.
Nat Commun. 2020 May 15;11(1):2408. doi: 10.1038/s41467-020-16276-8.
Nat Commun. 2020.
PMID: 32415113
Free PMC article.
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A rare missense variant in protection of telomeres 1 (POT1) predisposes to a range of haematological malignancies.
Nathan V, Johansson PA, Palmer JM, Hamilton HR, Howlie M, Brooks KM, Hayward NK, Pritchard AL.
Nathan V, et al. Among authors: howlie m.
Br J Haematol. 2021 Jan;192(2):e57-e60. doi: 10.1111/bjh.17218. Epub 2020 Nov 20.
Br J Haematol. 2021.
PMID: 33216348
Free article.
No abstract available.
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