Basal cell nevus syndrome: From DNA to therapeutics

被引：8
作者：
Lin, Matthew J. [1 ]
Dubin, Danielle P. [1 ]
Khorasani, Hooman [1 ]
Giordano, Cerrene N. [1 ]
机构：
[1] Icahn Sch Med Mt Sinai, Dept Dermatol, Div Dermatol Surg, New York, NY 10029 USA
来源：
CLINICS IN DERMATOLOGY | 2020年 / 38卷 / 04期
关键词：
CARCINOMA SYNDROME; GORLIN SYNDROME; CLINICAL FINDINGS; MUTATIONS; GENE; PTCH2; SUFU; PITS; MEDULLOBLASTOMA; DELETION;
D O I：
10.1016/j.clindermatol.2020.03.003
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
Basal cell nevus syndrome, also known as Gorlin syndrome, is a hereditary cancer syndrome associated with multiple basal cell carcinomas, congenital defects, and nondermatologic tumors. This disease is autosomal dominant with variable expressivity and is caused by abnormalities in the sonic hedgehog signaling pathway. Management requires a multidisciplinary approach and should include the biopsychosocial needs of patients and their families. Genetic testing is necessary to confirm an unclear diagnosis, evaluate at-risk relatives, and assist with family planning. (C) 2020 Elsevier Inc. All rights reserved.
引用
收藏
页码：467 / 476
页数：10
相关论文
共 54 条
  • [1] Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals
    Ahn, SG
    Lim, YS
    Kim, DK
    Kim, SG
    Lee, SH
    Yoon, JH
    [J]. INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY, 2004, 33 (05) : 458 - 462
  • [2] Akbari Maryam, 2018, Pathophysiology, V25, P77, DOI 10.1016/j.pathophys.2017.12.004
  • [3] ANDERSON DE, 1967, AM J HUM GENET, V19, P12
  • [4] [Anonymous], 2002, GENEREVIEWS
  • [5] BALE AE, 1995, P ASSOC AM PHYSICIAN, V107, P253
  • [6] BASAL CELL NEVUS SYNDROME - COMBINED CLINICAL STAFF CONFERENCE AT NATIONAL INSTITUTES OF HEALTH
    BERLIN, NI
    VANSCOTT, EJ
    CLENDENNING, WE
    ARCHARD, HO
    BLOCK, JB
    WITKOP, CJ
    HAYNES, HA
    [J]. ANNALS OF INTERNAL MEDICINE, 1966, 64 (02) : 403 - +
  • [7] EPITHELIOMA ADENOIDES CYSTICUM - BASAL CELL NEVI, AGENESIS OF THE CORPUS CALLOSUM AND DENTAL CYSTS - A CLINICAL AND AUTOPSY STUDY
    BINKLEY, GW
    JOHNSON, HH
    [J]. AMA ARCHIVES OF DERMATOLOGY AND SYPHILOLOGY, 1951, 63 (01): : 73 - 84
  • [8] Consensus Statement From the First International Colloquium on Basal Cell Nevus Syndrome (BCNS)
    Bree, Alanna F.
    Shah, Maulik R.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (09) : 2091 - 2097
  • [9] High Frequency of Germline SUFU Mutations in Children With Desmoplastic/Nodular Medulloblastoma Younger Than 3 Years of Age
    Brugieres, Laurence
    Remenieras, Audrey
    Pierron, Gaelle
    Varlet, Pascale
    Forget, Sebastien
    Byrde, Veronique
    Bombled, Johny
    Puget, Stephanie
    Caron, Olivier
    Dufour, Christelle
    Delattre, Olivier
    Bressac-de Paillerets, Brigitte
    Grill, Jacques
    [J]. JOURNAL OF CLINICAL ONCOLOGY, 2012, 30 (17) : 2087 - 2093
  • [10] Role and Regulation of Human Tumor Suppressor SUFU in Hedgehog Signaling
    Cheng, Steven Y.
    Yue, Shen
    [J]. ADVANCES IN CANCER RESEARCH, VOL 101, 2008, 101 : 29 - +
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