Summary The American College of Medical Genetics and Genomics (ACMG)/Association for
Molecular Pathology (AMP) framework for classifying variants uses six evidence categories …

Abstract Hereditary Breast and Ovarian Cancer (HBOC) is a genetic condition associated
with increased risk of cancers. The past decade has brought about significant changes to …

Simple Summary Multigene testing in ovarian cancer has received increased support due to
its 'applicability for cancer treatment and the impact it has on cancer prevention in families …

Current methods of next generation sequencing may simultaneously detect multiple
germline breast cancer susceptibility variants. However, it is a challenge to maximize the …

Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct
estimation of cancer risk and management of patients. Consistency in the weighting …

Much has been published about the ethical issues encountered by clinicians in
genetics/genomics, but those experienced by clinical laboratory scientists are less well …

It is 30 years since the first diagnostic cancer predisposition gene (CPG) test in the
Manchester Centre for Genomic Medicine (MCGM), providing opportunities for cancer …

It is believed that> 95% of people with Lynch syndrome (LS) remain undiagnosed. Within the
National Health Service (NHS) in England, formal guidelines issued in 2017 state that all …

Purpose Variant classifications may change over time, driven by emergence of fresh or
contradictory evidence or evolution in weighing or combination of evidence items. For …

The clinical importance of germline variants in DNA repair genes (DRGs) is becoming
increasingly recognized, but their impact on advanced prostate cancer prognosis remains …