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Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome.

Abstract

BACKGROUND

Hereditary pancreatic carcinoma shows extant phenotypic and genotypic heterogeneity as evidenced by its integral association with a variety of hereditary cancer syndromes inclusive of the familial atypical multiple mole melanoma (FAMMM) syndrome in concert with CDKN2A (p16) germline mutations.

METHODS

Creighton University's familial pancreatic carcinoma resource comprises 159 families of which 19 (12%) show the FAMMM cutaneous phenotypes. The authors describe eight families with the FAMMM-pancreatic carcinoma (FAMMM-PC) association in concert with a CDKN2A germline mutation. Each family was thoroughly educated about all facets of the study, including the molecular genetics, reduced penetrance of CDKN2A mutations, and their variable expressivity. Genetic counseling was provided to each patient.

RESULTS

Diversity in cancer presentation within and among the families was noteworthy, wherein melanoma predominated in certain of the families whereas pancreatic carcinoma predominated in others. Early-onset pancreatic carcinoma (at ages 35, 45, 46, and 49 years) appeared in some of the families whereas markedly later-onset pancreatic carcinoma occurred in others. There were four incidences of melanoma and pancreatic carcinoma as double primaries in the same individuals. One patient with melanoma and pancreatic carcinoma had a third primary of breast carcinoma. Another patient had sarcoma, esophageal carcinoma, and two melanoma primaries, whereas his daughter had sarcoma and was a carrier of a CDKN2A mutation.

CONCLUSIONS

The authors suggest that these tumors may collectively, in concert with CDKN2A mutations, constitute a "new" putative hereditary carcinoma syndrome referred to as FAMMM-PC. More clinical and molecular genetic research on additional families with pancreatic carcinoma in concert with the FAMMM will be required.

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  • Authors+Show Affiliations

    ,

    Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska 68178, USA. trlynch@creighton.edu

    , , , , , , , , ,

    Source

    Cancer 94:1 2002 Jan 01 pg 84-96

    MeSH

    Adult
    Age of Onset
    Aged
    Dysplastic Nevus Syndrome
    Female
    Genes, p16
    Germ-Line Mutation
    Humans
    Male
    Melanoma
    Middle Aged
    Neoplastic Syndromes, Hereditary
    Pancreatic Neoplasms
    Pedigree
    Phenotype
    Polymerase Chain Reaction
    Skin Neoplasms

    Pub Type(s)

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

    Language

    eng

    PubMed ID

    11815963

    Citation

    Lynch, Henry T., et al. "Phenotypic Variation in Eight Extended CDKN2A Germline Mutation Familial Atypical Multiple Mole Melanoma-pancreatic Carcinoma-prone Families: the Familial Atypical Mole Melanoma-pancreatic Carcinoma Syndrome." Cancer, vol. 94, no. 1, 2002, pp. 84-96.
    Lynch HT, Brand RE, Hogg D, et al. Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome. Cancer. 2002;94(1):84-96.
    Lynch, H. T., Brand, R. E., Hogg, D., Deters, C. A., Fusaro, R. M., Lynch, J. F., ... Kern, S. (2002). Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome. Cancer, 94(1), pp. 84-96.
    Lynch HT, et al. Phenotypic Variation in Eight Extended CDKN2A Germline Mutation Familial Atypical Multiple Mole Melanoma-pancreatic Carcinoma-prone Families: the Familial Atypical Mole Melanoma-pancreatic Carcinoma Syndrome. Cancer. 2002 Jan 1;94(1):84-96. PubMed PMID: 11815963.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome. AU - Lynch,Henry T, AU - Brand,Randall E, AU - Hogg,David, AU - Deters,Carolyn A, AU - Fusaro,Ramon M, AU - Lynch,Jane F, AU - Liu,Ling, AU - Knezetic,Joseph, AU - Lassam,Norman J, AU - Goggins,Michael, AU - Kern,Scott, PY - 2002/1/30/pubmed PY - 2002/2/6/medline PY - 2002/1/30/entrez SP - 84 EP - 96 JF - Cancer JO - Cancer VL - 94 IS - 1 N2 - BACKGROUND: Hereditary pancreatic carcinoma shows extant phenotypic and genotypic heterogeneity as evidenced by its integral association with a variety of hereditary cancer syndromes inclusive of the familial atypical multiple mole melanoma (FAMMM) syndrome in concert with CDKN2A (p16) germline mutations. METHODS: Creighton University's familial pancreatic carcinoma resource comprises 159 families of which 19 (12%) show the FAMMM cutaneous phenotypes. The authors describe eight families with the FAMMM-pancreatic carcinoma (FAMMM-PC) association in concert with a CDKN2A germline mutation. Each family was thoroughly educated about all facets of the study, including the molecular genetics, reduced penetrance of CDKN2A mutations, and their variable expressivity. Genetic counseling was provided to each patient. RESULTS: Diversity in cancer presentation within and among the families was noteworthy, wherein melanoma predominated in certain of the families whereas pancreatic carcinoma predominated in others. Early-onset pancreatic carcinoma (at ages 35, 45, 46, and 49 years) appeared in some of the families whereas markedly later-onset pancreatic carcinoma occurred in others. There were four incidences of melanoma and pancreatic carcinoma as double primaries in the same individuals. One patient with melanoma and pancreatic carcinoma had a third primary of breast carcinoma. Another patient had sarcoma, esophageal carcinoma, and two melanoma primaries, whereas his daughter had sarcoma and was a carrier of a CDKN2A mutation. CONCLUSIONS: The authors suggest that these tumors may collectively, in concert with CDKN2A mutations, constitute a "new" putative hereditary carcinoma syndrome referred to as FAMMM-PC. More clinical and molecular genetic research on additional families with pancreatic carcinoma in concert with the FAMMM will be required. SN - 0008-543X UR - https://www.unboundmedicine.com/medline/citation/11815963/Phenotypic_variation_in_eight_extended_CDKN2A_germline_mutation_familial_atypical_multiple_mole_melanoma_pancreatic_carcinoma_prone_families:_the_familial_atypical_mole_melanoma_pancreatic_carcinoma_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0008-543X&date=2002&volume=94&issue=1&spage=84 DB - PRIME DP - Unbound Medicine ER -