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Scoping the family history: assessment of Lynch syndrome (hereditary nonpolyposis colorectal cancer) in primary care settings--a primer for nurse practitioners.

Abstract

PURPOSE

To describe and discuss the characteristic features and red flags of Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer, that warrants referral for genetic cancer risk assessment (GCRA). A focus on the nurse practitioner's (NP) role in familial risk assessment, physical examination, initiation of genetic referrals, and issues related to the genetic counseling process are also discussed.

DATA SOURCES

A review and synopsis of professional guidelines, clinical articles, and research studies on Lynch syndrome and the genetics of inherited cancer syndromes associated with colorectal cancer. Online resources from the American Gastroenterological Association, American Medical Association, the American Nurses Association, the National Comprehensive Cancer Network, the National Cancer Institute, the National Cancer Institute-Physician Data Query, the National Coalition of Health Professional Education in Genetics, the National Human Genome Research Institute, the National Society of Genetic Counselors, International Society of Nurses in Genetics, and the Oncology Nursing Society.

CONCLUSIONS

Approximately 5% of all colon cancers are because of a germ line mutation predisposing individuals and their family members to colorectal and other cancers. Although the efficacy of screening modalities is established, healthcare providers often fail to identify those at greatest risk for disease. The extended family history is the first step in recognition of individuals "suspect" for hereditary colon cancers such as Lynch syndrome. Early-age onset of Lynch syndrome-associated cancers, an autosomal-dominant pattern, multiple primary tumors in an individual or multiple family members with Lynch syndrome-associated cancers, characteristic pathological features of colon cancer, or a known germ line Lynch syndrome mutation in a family member are "red flags" that will aid NPs in identifying individuals who may benefit from GCRA. IMPLICATIONS FOR NURSE PRACTITIONER PRACTICE: The importance of enhanced surveillance for early diagnosis and prevention of disease is a critical part of primary care. Thus, it is imperative that NPs obtain a minimum of a three-generation pedigree, recognize hereditary cancer patterns, and provide referral counseling for consideration of genetic testing of individuals suspect for Lynch syndrome.

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  • Authors+Show Affiliations

    ,

    FNP Program, George Mason University, Fairfax, Virginia, USA.

    , , ,

    Source

    MeSH

    Adult
    Colorectal Neoplasms, Hereditary Nonpolyposis
    Female
    Genetic Counseling
    Genetic Testing
    Germ-Line Mutation
    Humans
    Male
    Medical History Taking
    Nurse Practitioners
    Nurse's Role
    Nursing Assessment
    Patient Education as Topic
    Pedigree
    Physical Examination
    Primary Health Care
    Referral and Consultation
    Risk Assessment

    Pub Type(s)

    Case Reports
    Journal Article
    Review

    Language

    eng

    PubMed ID

    18271762

    Citation

    Maradiegue, Ann, et al. "Scoping the Family History: Assessment of Lynch Syndrome (hereditary Nonpolyposis Colorectal Cancer) in Primary Care Settings--a Primer for Nurse Practitioners." Journal of the American Academy of Nurse Practitioners, vol. 20, no. 2, 2008, pp. 76-84.
    Maradiegue A, Jasperson K, Edwards QT, et al. Scoping the family history: assessment of Lynch syndrome (hereditary nonpolyposis colorectal cancer) in primary care settings--a primer for nurse practitioners. J Am Acad Nurse Pract. 2008;20(2):76-84.
    Maradiegue, A., Jasperson, K., Edwards, Q. T., Lowstuter, K., & Weitzel, J. (2008). Scoping the family history: assessment of Lynch syndrome (hereditary nonpolyposis colorectal cancer) in primary care settings--a primer for nurse practitioners. Journal of the American Academy of Nurse Practitioners, 20(2), pp. 76-84. doi:10.1111/j.1745-7599.2007.00282.x.
    Maradiegue A, et al. Scoping the Family History: Assessment of Lynch Syndrome (hereditary Nonpolyposis Colorectal Cancer) in Primary Care Settings--a Primer for Nurse Practitioners. J Am Acad Nurse Pract. 2008;20(2):76-84. PubMed PMID: 18271762.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Scoping the family history: assessment of Lynch syndrome (hereditary nonpolyposis colorectal cancer) in primary care settings--a primer for nurse practitioners. AU - Maradiegue,Ann, AU - Jasperson,Kory, AU - Edwards,Quannetta T, AU - Lowstuter,Katrina, AU - Weitzel,Jeffrey, PY - 2008/2/15/pubmed PY - 2008/5/23/medline PY - 2008/2/15/entrez SP - 76 EP - 84 JF - Journal of the American Academy of Nurse Practitioners JO - J Am Acad Nurse Pract VL - 20 IS - 2 N2 - PURPOSE: To describe and discuss the characteristic features and red flags of Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer, that warrants referral for genetic cancer risk assessment (GCRA). A focus on the nurse practitioner's (NP) role in familial risk assessment, physical examination, initiation of genetic referrals, and issues related to the genetic counseling process are also discussed. DATA SOURCES: A review and synopsis of professional guidelines, clinical articles, and research studies on Lynch syndrome and the genetics of inherited cancer syndromes associated with colorectal cancer. Online resources from the American Gastroenterological Association, American Medical Association, the American Nurses Association, the National Comprehensive Cancer Network, the National Cancer Institute, the National Cancer Institute-Physician Data Query, the National Coalition of Health Professional Education in Genetics, the National Human Genome Research Institute, the National Society of Genetic Counselors, International Society of Nurses in Genetics, and the Oncology Nursing Society. CONCLUSIONS: Approximately 5% of all colon cancers are because of a germ line mutation predisposing individuals and their family members to colorectal and other cancers. Although the efficacy of screening modalities is established, healthcare providers often fail to identify those at greatest risk for disease. The extended family history is the first step in recognition of individuals "suspect" for hereditary colon cancers such as Lynch syndrome. Early-age onset of Lynch syndrome-associated cancers, an autosomal-dominant pattern, multiple primary tumors in an individual or multiple family members with Lynch syndrome-associated cancers, characteristic pathological features of colon cancer, or a known germ line Lynch syndrome mutation in a family member are "red flags" that will aid NPs in identifying individuals who may benefit from GCRA. IMPLICATIONS FOR NURSE PRACTITIONER PRACTICE: The importance of enhanced surveillance for early diagnosis and prevention of disease is a critical part of primary care. Thus, it is imperative that NPs obtain a minimum of a three-generation pedigree, recognize hereditary cancer patterns, and provide referral counseling for consideration of genetic testing of individuals suspect for Lynch syndrome. SN - 1041-2972 UR - https://www.unboundmedicine.com/medline/citation/18271762/Scoping_the_family_history:_assessment_of_Lynch_syndrome__hereditary_nonpolyposis_colorectal_cancer__in_primary_care_settings__a_primer_for_nurse_practitioners_ L2 - https://doi.org/10.1111/j.1745-7599.2007.00282.x DB - PRIME DP - Unbound Medicine ER -