Strategies for Clinical Implementation of Screening for Hereditary Cancer Syndromes

Publication date: Available online 21 September 2016
Source:Seminars in Oncology
Author(s): Brandie Heald, Jessica Marquard, Pauline Funchain
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 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.Hereditary cancer syndromes account for 5-10% of all malignancies. These syndromes are associated with significantly elevated risks of developing cancer and members of the patient's family may also be at risk to inherit the condition. Identification of these patients is critical to ensure timely and appropriate genetic testing, and potentially life-saving initiation of surveillance for secondary cancers in the individual tested as well as in affected family members. Certain cancers by virtue of their tumor types alone should prompt further hereditary evaluation; however, for most patients this identification process will involve an in-depth exploration of the patient's personal and family cancer history. Guidelines for obtaining a family history and risk stratification tools have been developed. Patients suspected of hereditary cancer syndromes should be offered genetic testing in the setting of genetic counseling. This article outlines the critical elements for hereditary cancer risk assessment, genetic testing, and genetic counseling.



http://ift.tt/2d2DLYG