Germline CDKN2A mutations in childhood melanoma: a case of melanoma-pancreatic cancer syndrome

被引：3
|
作者：
Gironi, Laura Cristina [1 ]
Colombo, Enrico [1 ]
Farinelli, Pamela [1 ]
Giorgione, Roberto [1 ]
Bozzola, Cristina [2 ]
Ogliara, Paola [3 ]
Pasini, Barbara [3 ]
机构：
[1] Univ Piemonte Orientale, Dept Clin & Expt Med, Dermatol Clin, Novara, Italy
[2] Univ Piemonte Orientale, Dept Hlth Sci, Pathol Unit, Novara, Italy
[3] Univ Turin, Dept Med Sci, Turin, Italy
来源：
INTERNATIONAL JOURNAL OF DERMATOLOGY | 2015年 / 54卷 / 12期
关键词：
MC1R VARIANTS; FAMILIES;
D O I：
10.1111/ijd.12933
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：E553 / E555
页数：3
相关论文
共 50 条
  • [21] Genotype/phenotype and penetrance studies in melanoma families with germline CDKN2A mutations
    Bishop, JAN
    Wachsmuth, RC
    Harland, M
    Bataille, V
    Pinney, E
    Mack, P
    Baglietto, L
    Cuzick, J
    Bishop, DT
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2000, 114 (01) : 28 - 33
  • [22] CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma
    Betti, M.
    Aspesi, A.
    Biasi, A.
    Casalone, E.
    Ferrante, D.
    Ogliara, P.
    Gironi, L. C.
    Giorgione, R.
    Farinelli, P.
    Grosso, F.
    Libener, R.
    Rosato, S.
    Turchetti, D.
    Maffe, A.
    Casadio, C.
    Ascoli, V.
    Dianzani, C.
    Colombo, E.
    Piccolini, E.
    Pavesi, M.
    Miccoli, S.
    Mirabelli, D.
    Bracco, C.
    Righi, L.
    Boldorini, R.
    Papotti, M.
    Matullo, G.
    Magnani, C.
    Pasini, B.
    Dianzani, I.
    CANCER LETTERS, 2016, 378 (02) : 120 - 130
  • [23] Sentinel node biopsy in cutaneous melanoma patients with germline CDKN2A mutations
    Ipenburg, Norbertus A.
    van der Hage, Jos A.
    Newton-Bishop, Julia A.
    Harland, Mark
    Kukutsch, Nicole A.
    Helgadottir, Hildur
    Vermeer, Maarten H.
    Nieweg, Omgo E.
    van Doorn, Remco
    MELANOMA RESEARCH, 2020, 30 (06) : 630 - 631
  • [24] Germline and somatic CDKN2A mutations in multiple primary melanoma patients.
    Fargnoli, MC
    Chimenti, S
    Soyer, HP
    Cerroni, L
    Wolf, P
    Peris, K
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2000, 115 (06) : 1170 - 1170
  • [25] Screening for CDKN2A mutations in hereditary melanoma
    Goldstein, AM
    Tucker, MA
    JOURNAL OF THE NATIONAL CANCER INSTITUTE, 1997, 89 (10) : 676 - 678
  • [26] Relevance of germline mutations in CDKN2A gene in breast cancer families with associated history of melanoma.
    Ganguly, A
    Godmilow, L
    Palmer, S
    Ganguly, T
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A21 - A21
  • [27] Histological features of superficial spreading melanoma are associated with and predictive of CDKN2A germline mutations
    Sargen, M. R.
    Kanetsky, P. A.
    Newton-Bishop, J.
    Hayward, N.
    Mann, G.
    Gruis, N.
    Tucker, M.
    Goldstein, A.
    Bianchi-Scarra, G.
    Puig, S.
    Elder, D. E.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2014, 134 : S121 - S121
  • [28] Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations
    Helgadottir, Hildur
    Ghiorzo, Paola
    van Doorn, Remco
    Puig, Susana
    Levin, Max
    Kefford, Richard
    Lauss, Martin
    Queirolo, Paola
    Pastorino, Lorenza
    Kapiteijn, Ellen
    Potrony, Miriam
    Carrera, Cristina
    Olsson, Hakan
    Hoiom, Veronica
    Jonsson, Goran
    JOURNAL OF MEDICAL GENETICS, 2020, 57 (05) : 316 - 321
  • [29] CDKN2A germline mutations in UK patients with familial melanoma and multiple primary melanomas
    MacKie, RM
    Andrew, N
    Lanyon, WG
    Connor, JM
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 111 (02) : 269 - 272
  • [30] CDKN2A germline mutations in UK patients with multiple primary melanomas and familial melanoma
    MacKie, RM
    Andrew, N
    Lanyon, WG
    Connor, JM
    BRITISH JOURNAL OF CANCER, 1999, 81 (04) : 573 - 573
12345