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[From gene to disease; from p16 to melanoma].
Ned Tijdschr Geneeskd 2000; 144(44):2100-2NT

Abstract

Approximately 10% of human cutaneous melanoma cases occur in families with the familial atypical multiple mole melanoma (FAMMM) syndrome, which is characterised by the familial occurrence of melanomas and atypical precursor naevi. A melanoma-associated gene has been mapped to 9p2l, encoding for the tumour suppressor gene CDKN2A. Worldwide, germline mutations in melanoma kindreds implicate this cell cycle regulator (p16) as a susceptibility gene for malignant melanoma. Most FAMMM families registered at the Leiden Pigmented Lesions Clinic share the same CDKN2A inactivating deletion (P16-Leiden). Presymptomatic DNA diagnosis will now be available for P16-Leiden positive FAMMM family members at the Leiden University Medical Centre.

Authors+Show Affiliations

Afd. Humane en Klinische Genetica, Leids Universitair Medisch Centrum, Leiden. gruis@lumc.nl

Pub Type(s)

English Abstract
Journal Article
Review

Language

dut

PubMed ID

11103670

Citation

Gruis, N A., and W Bergman. "[From Gene to Disease; From P16 to Melanoma]." Nederlands Tijdschrift Voor Geneeskunde, vol. 144, no. 44, 2000, pp. 2100-2.
Gruis NA, Bergman W. [From gene to disease; from p16 to melanoma]. Ned Tijdschr Geneeskd. 2000;144(44):2100-2.
Gruis, N. A., & Bergman, W. (2000). [From gene to disease; from p16 to melanoma]. Nederlands Tijdschrift Voor Geneeskunde, 144(44), pp. 2100-2.
Gruis NA, Bergman W. [From Gene to Disease; From P16 to Melanoma]. Ned Tijdschr Geneeskd. 2000 Oct 28;144(44):2100-2. PubMed PMID: 11103670.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [From gene to disease; from p16 to melanoma]. AU - Gruis,N A, AU - Bergman,W, PY - 2000/12/5/pubmed PY - 2001/2/28/medline PY - 2000/12/5/entrez SP - 2100 EP - 2 JF - Nederlands tijdschrift voor geneeskunde JO - Ned Tijdschr Geneeskd VL - 144 IS - 44 N2 - Approximately 10% of human cutaneous melanoma cases occur in families with the familial atypical multiple mole melanoma (FAMMM) syndrome, which is characterised by the familial occurrence of melanomas and atypical precursor naevi. A melanoma-associated gene has been mapped to 9p2l, encoding for the tumour suppressor gene CDKN2A. Worldwide, germline mutations in melanoma kindreds implicate this cell cycle regulator (p16) as a susceptibility gene for malignant melanoma. Most FAMMM families registered at the Leiden Pigmented Lesions Clinic share the same CDKN2A inactivating deletion (P16-Leiden). Presymptomatic DNA diagnosis will now be available for P16-Leiden positive FAMMM family members at the Leiden University Medical Centre. SN - 0028-2162 UR - https://www.unboundmedicine.com/medline/citation/11103670/[From_gene_to_disease L2 - https://medlineplus.gov/skincancer.html DB - PRIME DP - Unbound Medicine ER -