Context.—Next-generation sequencing (NGS) is a technology being used by many
laboratories to test for inherited disorders and tumor mutations. This technology is new for …

Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary
breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC …

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Non–Small Cell
Lung Cancer (NSCLC) provide recommended management for patients with NSCLC …

Arrhythmogenic cardiomyopathy (ACM) is an arrhythmogenic disorder of the myocardium
not secondary to ischemic, hypertensive, or valvular heart disease. ACM incorporates a …

Variants of uncertain significance fundamentally limit the clinical utility of genetic information.
The challenge they pose is epitomized by BRCA1, a tumour suppressor gene in which …

Abstract Purpose We evaluated the American College of Medical Genetics and
Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity …

Abstract Disclaimer: These ACMG Standards and Guidelines were developed primarily as
an educational resource for clinical laboratory geneticists to help them provide quality …

Objective: The aim was to formulate clinical practice guidelines for pheochromocytoma and
paraganglioma (PPGL). Participants: The Task Force included a chair selected by the …

Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk | New England Journal of
Medicine Skip to main content The New England Journal of Medicine homepage Advanced …

Background: Although high-risk mutations in identified major susceptibility genes (DNA
mismatch repair genes and MUTYH) account for some familial aggregation of colorectal …