EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer
T McDevitt, M Durkie, N Arnold, GJ Burghel… - European Journal of …, 2024 - nature.com
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 …
with increased risk of cancers. The past decade has brought about significant changes to …
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1
P Mur, J Viana-Errasti, S García-Mulero… - Genome Medicine, 2023 - Springer
Background Germline variants affecting the proofreading activity of polymerases epsilon and
delta cause a hereditary cancer and adenomatous polyposis syndrome characterized by …
delta cause a hereditary cancer and adenomatous polyposis syndrome characterized by …
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification
AC Gunning, CF Wright - Genome Medicine, 2023 - Springer
Background Classification of rare missense variants remains an ongoing challenge in
genomic medicine. Evidence of pathogenicity is often sparse, and decisions about how to …
genomic medicine. Evidence of pathogenicity is often sparse, and decisions about how to …
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification
CF Rowlands, A Garrett, S Allen, M Durkie… - Journal of Medical …, 2024 - jmg.bmj.com
Background The 2015 American College of Medical Genetics/Association of Molecular
Pathology (ACMG/AMP) variant classification framework specifies that case-control …
Pathology (ACMG/AMP) variant classification framework specifies that case-control …
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss
S Liu, M Zhong, Y Huang, Q Zhang, T Chen, X Xu… - Genome Medicine, 2023 - Springer
Abstract Background The American College of Medical Genetics and Genomics
(ACMG)/Association for Molecular Pathology (AMP) guidelines recommend using variant …
(ACMG)/Association for Molecular Pathology (AMP) guidelines recommend using variant …
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular …
S Allen, L Loong, A Garrett, B Torr, M Durkie… - Journal of Medical …, 2024 - jmg.bmj.com
Background National and international amalgamation of genomic data offers opportunity for
research and audit, including analyses enabling improved classification of variants of …
research and audit, including analyses enabling improved classification of variants of …
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes
T Bruenger, A Ivanuk, E Pérez-Palma, L Montanucci… - 2024 - researchsquare.com
Background The majority of missense variants in clinical genetic tests are classified as
variants of uncertain significance. Prior research has shown that the deleterious effects and …
variants of uncertain significance. Prior research has shown that the deleterious effects and …
Second primary cancers following breast cancer in the general population and in BRCA1 and BRCA2 pathogenic variant carriers
I Allen - 2024 - repository.cam.ac.uk
Background Second primary cancer (SPC) risks in breast cancer (BC) survivors carrying
BRCA1 or BRCA2 pathogenic variants (PVs) are uncertain. There is also little evidence for …
BRCA1 or BRCA2 pathogenic variants (PVs) are uncertain. There is also little evidence for …