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Clinical and genetic analysis of 18 pancreatic carcinoma/melanoma-prone families.

Abstract

Families with both melanoma and pancreatic cancer are extremely rare and some are affected with the autosomal dominant inherited familial atypical multiple mole melanoma-pancreatic cancer (FAMMM-PC) syndrome. The phenotypic and genotypic expressions of such pancreatic cancer-melanoma prone families are not well defined. The National Case Collection of Familial Pancreatic Cancer of the Deutsche Krebshilfe includes 110 pancreatic cancer families, 18 of which (16%) show an association of pancreatic cancer and melanoma. These 18 families were analysed regarding their phenotype and the prevalence of germline mutations in the candidate genes CDKN2A, BRCA2, CHEK2, NOD2, ARL11 and Palladin (PALLD). There were two types of families: five families with the FAMMM-PC phenotype and 13 PC/melanoma families without the multiple mole phenotypes (PCMS). The prevalences of PC and melanoma in the two types of families were similar. The prevalence of other tumour types, especially breast carcinoma, was higher (11%) in PCMS- than in FAMMM-PC families (2.4%, p = 0.02). CDKN2A mutations were identified in 2 of 18 (11%) PCMS families. A cosegregating BRCA2 mutation was detected in one PCMS family without breast cancer. None of the reported germline mutations in the NOD2, Palladin, ARL11 or CHEK2 genes were detected in either type of family. In conclusion, families with an accumulation of PC and melanoma show a large variety of phenotypic expression, which is not always consistent with the FAMMM-PC phenotype. More PC/melanoma-prone families need to be analysed to clarify whether such families represent variations of the FAMMM-PC syndrome or two distinct hereditary cancer syndromes.

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  • Authors+Show Affiliations

    ,

    Department of Surgery, Philipps-University, Marburg, Germany.

    , , , , , ,

    Source

    Clinical genetics 77:4 2010 Apr pg 333-41

    MeSH

    Adult
    Aged
    Aged, 80 and over
    BRCA2 Protein
    DNA Mutational Analysis
    Family
    Female
    Genetic Predisposition to Disease
    Germ-Line Mutation
    Humans
    Male
    Melanoma
    Middle Aged
    Pancreatic Neoplasms
    Pedigree
    Phenotype
    Polymorphism, Genetic
    Skin Neoplasms
    Young Adult

    Pub Type(s)

    Journal Article
    Research Support, Non-U.S. Gov't

    Language

    eng

    PubMed ID

    20041885

    Citation

    Bartsch, D K., et al. "Clinical and Genetic Analysis of 18 Pancreatic Carcinoma/melanoma-prone Families." Clinical Genetics, vol. 77, no. 4, 2010, pp. 333-41.
    Bartsch DK, Langer P, Habbe N, et al. Clinical and genetic analysis of 18 pancreatic carcinoma/melanoma-prone families. Clin Genet. 2010;77(4):333-41.
    Bartsch, D. K., Langer, P., Habbe, N., Matthäi, E., Chaloupka, B., Sina, M., ... Slater, E. P. (2010). Clinical and genetic analysis of 18 pancreatic carcinoma/melanoma-prone families. Clinical Genetics, 77(4), pp. 333-41. doi:10.1111/j.1399-0004.2009.01352.x.
    Bartsch DK, et al. Clinical and Genetic Analysis of 18 Pancreatic Carcinoma/melanoma-prone Families. Clin Genet. 2010;77(4):333-41. PubMed PMID: 20041885.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Clinical and genetic analysis of 18 pancreatic carcinoma/melanoma-prone families. AU - Bartsch,D K, AU - Langer,P, AU - Habbe,N, AU - Matthäi,E, AU - Chaloupka,B, AU - Sina,M, AU - Hahn,S A, AU - Slater,E P, Y1 - 2009/12/22/ PY - 2010/1/1/entrez PY - 2010/1/1/pubmed PY - 2010/9/15/medline SP - 333 EP - 41 JF - Clinical genetics JO - Clin. Genet. VL - 77 IS - 4 N2 - Families with both melanoma and pancreatic cancer are extremely rare and some are affected with the autosomal dominant inherited familial atypical multiple mole melanoma-pancreatic cancer (FAMMM-PC) syndrome. The phenotypic and genotypic expressions of such pancreatic cancer-melanoma prone families are not well defined. The National Case Collection of Familial Pancreatic Cancer of the Deutsche Krebshilfe includes 110 pancreatic cancer families, 18 of which (16%) show an association of pancreatic cancer and melanoma. These 18 families were analysed regarding their phenotype and the prevalence of germline mutations in the candidate genes CDKN2A, BRCA2, CHEK2, NOD2, ARL11 and Palladin (PALLD). There were two types of families: five families with the FAMMM-PC phenotype and 13 PC/melanoma families without the multiple mole phenotypes (PCMS). The prevalences of PC and melanoma in the two types of families were similar. The prevalence of other tumour types, especially breast carcinoma, was higher (11%) in PCMS- than in FAMMM-PC families (2.4%, p = 0.02). CDKN2A mutations were identified in 2 of 18 (11%) PCMS families. A cosegregating BRCA2 mutation was detected in one PCMS family without breast cancer. None of the reported germline mutations in the NOD2, Palladin, ARL11 or CHEK2 genes were detected in either type of family. In conclusion, families with an accumulation of PC and melanoma show a large variety of phenotypic expression, which is not always consistent with the FAMMM-PC phenotype. More PC/melanoma-prone families need to be analysed to clarify whether such families represent variations of the FAMMM-PC syndrome or two distinct hereditary cancer syndromes. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/20041885/Clinical_and_genetic_analysis_of_18_pancreatic_carcinoma/melanoma_prone_families_ L2 - https://doi.org/10.1111/j.1399-0004.2009.01352.x DB - PRIME DP - Unbound Medicine ER -