Establishing the medical actionability of genomic variants

KAB Goddard, K Lee, AH Buchanan… - Annual review of …, 2022 - annualreviews.org
Actionability is an important concept in medicine that does not have a well-accepted
standard definition, nor is there a general consensus on how to establish it. Medical …

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

AL Davidson, U Dressel, S Norris, DM Canson… - Genome medicine, 2023 - Springer
Background Many families and individuals do not meet criteria for a known hereditary
cancer syndrome but display unusual clusters of cancers. These families may carry …

Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions

AL Davidson, O Kondrashova, C Leonard… - Human …, 2022 - Wiley Online Library
The clinical classification of variants may change with new information, however, there is
limited guidance on how often significant changes in variant classification occur. We used …

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

JM Moreno-Cabrera, L Feliubadaló, M Pineda… - Database, 2024 - academic.oup.com
Accurate classification of genetic variants is crucial for clinical decision-making in hereditary
cancer. In Spain, genetic diagnostic laboratories have traditionally approached this task …

[HTML][HTML] Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer

RAR Villacis, L Côrtes, TR Basso, LM do Canto… - International Journal of …, 2024 - mdpi.com
A hereditary component of breast (BC) and colorectal cancer (CRC) has been described in
approximately one-third of these tumor types. BC patients have an increased risk of …

[HTML][HTML] The splicing effect of variants at branchpoint elements in cancer genes

DM Canson, T Dumenil, MT Parsons, TA O'Mara… - Genetics in …, 2022 - Elsevier
Purpose Branchpoint elements are required for intron removal, and variants at these
elements can result in aberrant splicing. We aimed to assess the value of branchpoint …

eviQ Cancer Treatments Online: Providing evidence‐based information to improve cancer patient outcomes

JV Shingleton, BW Stapleton, AP Kelly… - Asia‐Pacific Journal …, 2024 - Wiley Online Library
Aim To understand the current usage of eviQ Cancer Treatments Online (www. eviQ. org.
au), an Australian, open‐access website providing evidence‐based and consensus‐driven …

[引用][C] Next generation sequencing analysis for the diagnosis of suspected hereditary cancer cases

AL Davidson - 2022 - espace.library.uq.edu.au
Empirical observations at Familial Cancer Centres across Australia have identified many
families with unusual clusters of cancers and/or individuals with multiple primary cancers …