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Inherited predisposition to cancer: a historical overview.

Abstract

The hereditary predisposition to cancer dates historically to interest piqued by physicians as well as family members wherein striking phenotypic features were shown to cluster in families, inclusive of the rather grotesque cutaneous findings in von Recklinghausen's neurofibromatosis, which date back to the sixteenth century. The search for the role of primary genetic factors was heralded by studies at the infrahuman level, particularly on laboratory mouse strains with strong susceptibility to carcinogen-induced cancer, and conversely, with resistance to the same carcinogens. These studies, developed in the 19th and 20th centuries, continue today. This article traces the historical aspects of hereditary cancer dealing with identification and ultimate molecular genetic confirmation of commonly occurring cancers, particularly of the colon in the case of familial adenomatous polyposis and its attenuated form, both due to the APC germline mutation; the Lynch syndrome due to mutations in mismatch repair genes, the most common of which were found to be MSH2, MLH1, and MSH6 germline mutations; the hereditary breast-ovarian cancer syndrome with BRCA1 and BRCA2 germline mutations; the Li-Fraumeni (SBLA) syndrome due to the p53 mutation; and the familial atypical multiple mole melanoma in association with pancreatic cancer due to the CDKN2A (p16) germline mutation. These and other hereditary cancer syndromes have been discussed in some detail relevant to their characterization, which, for many conditions, took place in the late 18th century and, in the more modern molecular genetic era, during the past two decades. Emphasis has been placed upon the manner in which improved cancer control will emanate from these discoveries.

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  • Authors+Show Affiliations

    ,

    Department of Preventive Medicine, Creighton University School of Medicine, 2500 California Plaza, Omaha, NE 68178, USA. htlynch@creighton.edu

    ,

    Source

    MeSH

    Animals
    Breast Neoplasms
    Colorectal Neoplasms
    Disease Models, Animal
    Female
    Genetic Predisposition to Disease
    History, 16th Century
    History, 17th Century
    History, 18th Century
    History, 19th Century
    History, 20th Century
    History, 21st Century
    Humans
    Melanoma
    Mice
    Multiple Endocrine Neoplasia
    Neoplasms
    Neoplastic Syndromes, Hereditary
    Neurofibromatoses
    Ovarian Neoplasms
    Pedigree

    Pub Type(s)

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

    Language

    eng

    PubMed ID

    15264268

    Citation

    Lynch, Henry T., et al. "Inherited Predisposition to Cancer: a Historical Overview." American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol. 129C, no. 1, 2004, pp. 5-22.
    Lynch HT, Shaw TG, Lynch JF. Inherited predisposition to cancer: a historical overview. Am J Med Genet C Semin Med Genet. 2004;129C(1):5-22.
    Lynch, H. T., Shaw, T. G., & Lynch, J. F. (2004). Inherited predisposition to cancer: a historical overview. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 129C(1), pp. 5-22.
    Lynch HT, Shaw TG, Lynch JF. Inherited Predisposition to Cancer: a Historical Overview. Am J Med Genet C Semin Med Genet. 2004 Aug 15;129C(1):5-22. PubMed PMID: 15264268.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Inherited predisposition to cancer: a historical overview. AU - Lynch,Henry T, AU - Shaw,Trudy G, AU - Lynch,Jane F, PY - 2004/7/21/pubmed PY - 2004/9/24/medline PY - 2004/7/21/entrez SP - 5 EP - 22 JF - American journal of medical genetics. Part C, Seminars in medical genetics JO - Am J Med Genet C Semin Med Genet VL - 129C IS - 1 N2 - The hereditary predisposition to cancer dates historically to interest piqued by physicians as well as family members wherein striking phenotypic features were shown to cluster in families, inclusive of the rather grotesque cutaneous findings in von Recklinghausen's neurofibromatosis, which date back to the sixteenth century. The search for the role of primary genetic factors was heralded by studies at the infrahuman level, particularly on laboratory mouse strains with strong susceptibility to carcinogen-induced cancer, and conversely, with resistance to the same carcinogens. These studies, developed in the 19th and 20th centuries, continue today. This article traces the historical aspects of hereditary cancer dealing with identification and ultimate molecular genetic confirmation of commonly occurring cancers, particularly of the colon in the case of familial adenomatous polyposis and its attenuated form, both due to the APC germline mutation; the Lynch syndrome due to mutations in mismatch repair genes, the most common of which were found to be MSH2, MLH1, and MSH6 germline mutations; the hereditary breast-ovarian cancer syndrome with BRCA1 and BRCA2 germline mutations; the Li-Fraumeni (SBLA) syndrome due to the p53 mutation; and the familial atypical multiple mole melanoma in association with pancreatic cancer due to the CDKN2A (p16) germline mutation. These and other hereditary cancer syndromes have been discussed in some detail relevant to their characterization, which, for many conditions, took place in the late 18th century and, in the more modern molecular genetic era, during the past two decades. Emphasis has been placed upon the manner in which improved cancer control will emanate from these discoveries. SN - 1552-4868 UR - https://www.unboundmedicine.com/medline/citation/15264268/Inherited_predisposition_to_cancer:_a_historical_overview_ L2 - https://doi.org/10.1002/ajmg.c.30026 DB - PRIME DP - Unbound Medicine ER -