title: Strategies for clinical implementation of screening for hereditary cancer syndromes.
abstract: Hereditary cancer syndromes generally account for 5%-10% of malignancies. While these syndromes are rare, affected patients carry significantly elevated risks of developing cancer, as do their at-risk relatives. Identification of these patients is critical to ensure timely and appropriate genetic testing relevant to cancer patients and their relatives. Several guidelines and tools are available to assist clinicians. Patients suspected to have hereditary cancer syndromes should be offered genetic testing in the setting of genetic counseling by a qualified genetics professional. Germline testing ranges from testing for a known specific familial mutation to testing of a broad differential diagnosis using a pan-cancer multi-gene panel. Taking a family history, referring specific types of tumors with higher likelihood of heredity, implementing universal screening protocols such as microsatellite instability/immunohistochemistry (MSI/IHC) for specific tumors, and referring patients with somatic tumor testing that have potentially germline consequences are all important components to the identification of hereditary cancer syndromes in the oncology clinic.
authors.affiliation: Center for Personalized Genetic Healthcare, Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH. Electronic address: leachb@ccf.org.
authors.forename: Brandie
authors.initials: B
authors.lastname: Heald
authors.affiliation: Center for Personalized Genetic Healthcare, Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH.
authors.forename: Jessica
authors.initials: J
authors.lastname: Marquard
authors.affiliation: Center for Personalized Genetic Healthcare, Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH; Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH.
authors.forename: Pauline
authors.initials: P
authors.lastname: Funchain
mesh_terms: D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis; D055088:Early Detection of Cancer / Q000379:methods*; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D053842:Microsatellite Instability; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis*; D018570:Risk Assessment
keywords: Genetic counseling; Germline genetic testing; Hereditary cancer syndromes