Multiple Endocrine Neoplasia
Early diagnosis of multiple endocrine neoplasia (MEN) syndromes is critical for optimal clinical outcomes; before the MEN syndromes can be diagnosed, they must be suspected. Genetic testing for germline alterations…
Sequence Variants of Uncertain Significance
Clinical genetic testing for cancer predisposition syndromes often identifies DNA changes whose effects cannot be interpreted easily. These changes, often referred to as variants of uncertain significance (VUS), are not…
Genetic Testing in the Multidisciplinary Management of Melanoma
Melanoma is increasing in incidence and represents an aggressive type of cancer. Efforts have focused on identifying genetic factors in melanoma carcinogenesis to guide prevention, screening, early detection, and targeted…
Hereditary Gastric Cancer Syndromes
Hereditary gastric cancer syndromes are a rare but distinct cause of gastric cancers. The genetic mutations underlying most affected families are unknown. Mutations of CDH1 occur in some patients affected…
Hereditary Pancreatic Cancer Syndromes
Despite decades of scientific and clinical research, pancreatic ductal adenocarcinoma (PDAC) remains a lethal malignancy. The clinical and pathologic features of PDAC, specifically the known environmental and genetic risk factors,…
The Genetics of Breast Cancer
This article summarizes the impact of germline predisposition to breast cancer on the surgical management of breast cancer and breast cancer risk. Surgical implications of germline predisposition to breast cancer…
The Genetics of Colorectal Cancer
The hereditary colorectal cancer syndromes comprise a heterogeneous group of conditions with varying cancer risks, gastrointestinal polyp types, nonmalignant findings, and inheritance patterns. Although each one is unique in its…
Confidentiality & the Risk of Genetic Discrimination
In the past decade, laws have been passed to provide legal protections against genetic discrimination. Many members of the public and medical providers are unaware of the legislation, and concerns…
Certified Genetic Counselors
The role of the cancer genetic counselor in the management of patients with cancer is discussed in this article. This includes explaining what a genetic counselor is trained to do…
Securing and Documenting Cancer Family History in the Age of the Electronic Medical Record
Family health history is one of the least expensive, most useful, and most underused methods available to conduct assessments of the genetic aspect of a condition or to target the…
