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Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia

Autor: Dalmasso, B., Pastorino, L., Nathan, V., Shah, N.N., Palmer, J.M., Howlie, M., Johansson, P.A., Freedman, N.D., Carter, B.D., Beane-Freeman, L., Hicks, B., Molven, A., Helgadottir, H., Sankar, A., Tsao, H., Stratigos, A.J., Helsing, P., Doorn, R. van, Gruis, N.A., Visser, M., Wadt, K.A.W., Mann, G., Holland, E.A., Nagore, E., Potrony, M., Puig, S., Menin, C., Peris, K., Fargnoli, M.C., Calista, D., Soufir, N., Harland, M., Bishop, T., Kanetsky, P.A., Elder, D.E., Andreotti, V., Vanni, I., Bruno, W., Hoiom, V., Tucker, M.A., Yang, X.R., Andresen, P.A., Adams, D.J., Landi, M.T., Hayward, N.K., Goldstein, A.M., Ghiorzo, P., GenoMEL, MelaNostrum Consortia

Publikováno v: Genetics in Medicine, 23(11), 2087-2095. SPRINGERNATURE
Genetics in Medicine
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 11

Purpose Ataxia–Telangiectasia Mutated (ATM) has been implicated in the risk of several cancers, but establishing a causal relationship is often challenging. Although ATM single-nucleotide polymorphisms have been linked to melanoma, few functional a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51b0ef9606b12f87dff498e2a2603490
http://hdl.handle.net/1887/3280197

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Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families

Autor: Taylor, N.J., Mitra, N., Goldstein, A.M., Tucker, M.A., Avil, M.F., Azizi, E., Bergman, W., Bishop, D.T., Bressac-de Paillerets, B., Bruno, W., Calista, D., Cannon-Albright, L.A., Cuellar, F., Cust, A.E., Demenais, F., Elder, D.E., Gerdes, A.M., Ghiorzo, P., Grazziotin, T.C., Hansson, J., Harland, M., Hayward, N.K., Hocevar, M., Hoiom, V., Ingvar, C., Landi, M.T., Landman, G., Larre-Borges, A., Leachman, S.A., Mann, G.J., Nagore, E., Olsson, H., Palmer, J.M., Peric, B., Pjanova, D., Pritchard, A., Puig, S., Stoep, N. van der, Wadt, K.A.W., Whitaker, L., Yang, X.R., Bishop, J.A.N., Gruis, N.A., Kanetsky, P.A., GenoMEL Study Grp

Publikováno v: Journal of Investigative Dermatology, 137(12), 2606-2612

Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including cou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::395860513e9e3ae8228f86de5951dda1
https://europepmc.org/articles/PMC5701856/

Urinary lead isotopes during pregnancy and postpartum indicate no preferential partitioning of endogenous lead into plasma

Autor: Gulson, B.L., Mizon, K.J., Palmer, J.M., Korsch, M.J., Patison, N., Jameson, C.W., Donnelly, J.B.

Publikováno v: In The Journal of Laboratory and Clinical Medicine September 2000 136(3):236-242