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Hereditary cancer syndrome diagnosis: molecular genetic clues and cancer control.

Abstract

Oncologists who are aware of the progress in hereditary cancer syndrome diagnosis, and, in particular, of how this effort may be effectively facilitated through a comprehensive family history in concert with molecular genetic studies, are in the envious position of designing highly targeted screening and management programs for the membership of these cancer-prone families. The Lynch syndrome is discussed as a clinical model wherein the presence of mismatch repair mutations provides a high level of diagnostic certainty for the initiation of targeted cancer screening and management. The familial atypical multiple mole melanoma-pancreatic cancer (FAMMM-PC) syndrome, on the other hand, provides another model with cancer-control potential. Given its phenotypic features of multiple atypical nevi, high total body mole count and cutaneous malignant melanoma, coupled with the integral association of PC in a subset of FAMMM kindreds with the CDKN2A germline mutation, this may result in a perhaps lower level of diagnostic certainty when compared with the Lynch syndrome. This knowledge may impact upon progress in the earlier diagnosis of melanoma and provide an impetus for creative diagnostic methods in PC, a disease that, at this time, demonstrates a mortality rate virtually identical to its incidence rate.

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  • Authors+Show Affiliations

    ,

    Department of Preventive Medicine, Creighton University School of Medicine, Omaha NE 68178, USA. htlynch@creighton.edu

    ,

    Source

    Future oncology (London, England) 3:2 2007 Apr pg 169-81

    MeSH

    Colorectal Neoplasms, Hereditary Nonpolyposis
    Cyclin-Dependent Kinase Inhibitor p16
    Disease Management
    Disease Progression
    Dysplastic Nevus Syndrome
    Genetic Predisposition to Disease
    Humans
    Molecular Biology
    Mutation
    Neoplastic Syndromes, Hereditary
    Pancreatic Neoplasms

    Pub Type(s)

    Journal Article
    Research Support, N.I.H., Extramural
    Research Support, Non-U.S. Gov't
    Review

    Language

    eng

    PubMed ID

    17381417

    Citation

    Lynch, Henry T., et al. "Hereditary Cancer Syndrome Diagnosis: Molecular Genetic Clues and Cancer Control." Future Oncology (London, England), vol. 3, no. 2, 2007, pp. 169-81.
    Lynch HT, Fusaro RM, Lynch JF. Hereditary cancer syndrome diagnosis: molecular genetic clues and cancer control. Future Oncol. 2007;3(2):169-81.
    Lynch, H. T., Fusaro, R. M., & Lynch, J. F. (2007). Hereditary cancer syndrome diagnosis: molecular genetic clues and cancer control. Future Oncology (London, England), 3(2), pp. 169-81.
    Lynch HT, Fusaro RM, Lynch JF. Hereditary Cancer Syndrome Diagnosis: Molecular Genetic Clues and Cancer Control. Future Oncol. 2007;3(2):169-81. PubMed PMID: 17381417.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Hereditary cancer syndrome diagnosis: molecular genetic clues and cancer control. AU - Lynch,Henry T, AU - Fusaro,Ramon M, AU - Lynch,Jane F, PY - 2007/3/27/pubmed PY - 2007/7/18/medline PY - 2007/3/27/entrez SP - 169 EP - 81 JF - Future oncology (London, England) JO - Future Oncol VL - 3 IS - 2 N2 - Oncologists who are aware of the progress in hereditary cancer syndrome diagnosis, and, in particular, of how this effort may be effectively facilitated through a comprehensive family history in concert with molecular genetic studies, are in the envious position of designing highly targeted screening and management programs for the membership of these cancer-prone families. The Lynch syndrome is discussed as a clinical model wherein the presence of mismatch repair mutations provides a high level of diagnostic certainty for the initiation of targeted cancer screening and management. The familial atypical multiple mole melanoma-pancreatic cancer (FAMMM-PC) syndrome, on the other hand, provides another model with cancer-control potential. Given its phenotypic features of multiple atypical nevi, high total body mole count and cutaneous malignant melanoma, coupled with the integral association of PC in a subset of FAMMM kindreds with the CDKN2A germline mutation, this may result in a perhaps lower level of diagnostic certainty when compared with the Lynch syndrome. This knowledge may impact upon progress in the earlier diagnosis of melanoma and provide an impetus for creative diagnostic methods in PC, a disease that, at this time, demonstrates a mortality rate virtually identical to its incidence rate. SN - 1479-6694 UR - https://www.unboundmedicine.com/medline/citation/17381417/Hereditary_cancer_syndrome_diagnosis:_molecular_genetic_clues_and_cancer_control_ L2 - http://www.futuremedicine.com/doi/full/10.2217/14796694.3.2.169?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -