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Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden).
Int J Cancer 2000; 87(6):809-11IJ

Abstract

Familial atypical multiple mole melanoma (FAMMM) is an autosomal dominant disease characterized by the familial occurrence of malignant melanoma of the skin and multiple atypical precursor lesions. Germline mutations in the p16 (CDKN2A) gene have been reported in at least a quarter of such families. An association has been reported between p16 mutations and pancreatic cancer. The aim of this study was to assess the risk of developing pancreatic and other cancers in Dutch FAMMM families with a 19 bp deletion in exon 2 of the p16 gene (p16-Leiden). Mutation analysis was performed in 27 families suspected of FAMMM. Clinical and pathological data were collected from all relatives affected with cancer. A p16-Leiden mutation was identified in 19 families. These families included 86 patients with melanoma. The second most frequent cancer was pancreatic cancer, which was observed in 15 patients from 7 families. The mean age at diagnosis of pancreatic cancer was 58 years (range 38-77 years). The estimated cumulative risk of developing pancreatic cancer in putative mutation carriers by age 75 years was 17%. In 8 p16-Leiden-negative families, no cases of pancreatic cancer occurred. p16 mutation carriers have a considerable risk of developing pancreatic cancer. Further studies should evaluate the value of surveillance of the pancreas in these high-risk families.

Authors+Show Affiliations

The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands. nfdht@xs4all.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10956390

Citation

Vasen, H F., et al. "Risk of Developing Pancreatic Cancer in Families With Familial Atypical Multiple Mole Melanoma Associated With a Specific 19 Deletion of P16 (p16-Leiden)." International Journal of Cancer, vol. 87, no. 6, 2000, pp. 809-11.
Vasen HF, Gruis NA, Frants RR, et al. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer. 2000;87(6):809-11.
Vasen, H. F., Gruis, N. A., Frants, R. R., van Der Velden, P. A., Hille, E. T., & Bergman, W. (2000). Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). International Journal of Cancer, 87(6), pp. 809-11.
Vasen HF, et al. Risk of Developing Pancreatic Cancer in Families With Familial Atypical Multiple Mole Melanoma Associated With a Specific 19 Deletion of P16 (p16-Leiden). Int J Cancer. 2000 Sep 15;87(6):809-11. PubMed PMID: 10956390.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). AU - Vasen,H F, AU - Gruis,N A, AU - Frants,R R, AU - van Der Velden,P A, AU - Hille,E T, AU - Bergman,W, PY - 2000/8/24/pubmed PY - 2000/9/9/medline PY - 2000/8/24/entrez SP - 809 EP - 11 JF - International journal of cancer JO - Int. J. Cancer VL - 87 IS - 6 N2 - Familial atypical multiple mole melanoma (FAMMM) is an autosomal dominant disease characterized by the familial occurrence of malignant melanoma of the skin and multiple atypical precursor lesions. Germline mutations in the p16 (CDKN2A) gene have been reported in at least a quarter of such families. An association has been reported between p16 mutations and pancreatic cancer. The aim of this study was to assess the risk of developing pancreatic and other cancers in Dutch FAMMM families with a 19 bp deletion in exon 2 of the p16 gene (p16-Leiden). Mutation analysis was performed in 27 families suspected of FAMMM. Clinical and pathological data were collected from all relatives affected with cancer. A p16-Leiden mutation was identified in 19 families. These families included 86 patients with melanoma. The second most frequent cancer was pancreatic cancer, which was observed in 15 patients from 7 families. The mean age at diagnosis of pancreatic cancer was 58 years (range 38-77 years). The estimated cumulative risk of developing pancreatic cancer in putative mutation carriers by age 75 years was 17%. In 8 p16-Leiden-negative families, no cases of pancreatic cancer occurred. p16 mutation carriers have a considerable risk of developing pancreatic cancer. Further studies should evaluate the value of surveillance of the pancreas in these high-risk families. SN - 0020-7136 UR - https://www.unboundmedicine.com/medline/citation/10956390/Risk_of_developing_pancreatic_cancer_in_families_with_familial_atypical_multiple_mole_melanoma_associated_with_a_specific_19_deletion_of_p16__p16_Leiden__ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0020-7136&date=2000&volume=87&issue=6&spage=809 DB - PRIME DP - Unbound Medicine ER -