Antiphospholipid syndrome (APS) is a systemic disease that causes venous and arterial thrombosis in virtually any organ and is responsible for fetal losses and pregnancy disorders. Previously, APS was thought…
Genome-wide association studies (GWAS) have now been performed in nearly all common malignancies and have identified more than 100 common genetic risk variants that confer a modest increased risk of…
The hereditary paraganglioma, MEN1, MEN2, and hereditary thyroid cancer syndromes are clinically discernable and genetically distinct. The first 3 syndromes have been well characterized in the past 10 to 15…
Despite epidemiologic data supporting a significant genetic contribution to the cause of genitourinary malignancies, their diagnosis rarely results in clinical genetics referral and the heritability of prostate, bladder, kidney, and…
In this article hereditary genodermatoses with cancer predisposition are reviewed, including nevoid basal cell carcinoma syndrome, neurofibromatosis types 1 and 2, tuberous sclerosis complex, xeroderma pigmentosum, and dyskeratosis congenita. Hereditary…
Colorectal cancer (CRC) is a common disease, and approximately 25% of patients have a familial component. High-penetrance singlegene germline mutations conferring a true hereditary susceptibility account for around 5% to…
Malignancies of the upper gastrointestinal tract form a heterogeneous group of cancers characterized by unique epidemiology and biology. Despite these differences, survival for advanced disease remains poor across the panel…
A small, but important, percentage of breast cancer cases is caused by the inheritance of a single copy of a mutated gene. BRCA1 and BRCA2 are the genes most commonly…
The past three decades have witnessed an explosion in information regarding the genetic mutations underlying predisposition to common malignancies. Discoveries are now being made regarding genomic variants associated with disease…
Although inherited predisposition to colorectal cancer (CRC) has been suspected for more than 100 years, definitive proof of Mendelian syndromes had to await maturation of molecular genetic technologies. Since the…
