Understanding variants of unknown significance and classification of genomic alterations
DC Pavlick, GM Frampton, JR Ross - The Oncologist, 2024 - academic.oup.com
Despite recent efforts to issue clinical guidelines outlining strategies to define the
pathogenicity of genomic variants, there is currently no standardized framework for which to …
pathogenicity of genomic variants, there is currently no standardized framework for which to …
[HTML][HTML] Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical …
H Hanson, E Astiazaran-Symonds, LM Amendola… - Genetics in …, 2023 - Elsevier
Purpose Although the role of CHEK2 germline pathogenic variants in cancer predisposition
is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited …
is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited …
Risk-reducing surgery for individuals with cancer-predisposing germline pathogenic variants and no personal cancer history: a review of current UK guidelines
Identifying healthy carriers of germline pathogenic variants in high penetrance cancer
susceptibility genes offers the potential for risk-reducing surgery. The NHS England National …
susceptibility genes offers the potential for risk-reducing surgery. The NHS England National …
Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing
EC Vogt, E Bratland, S Berland, R Berentsen… - Human …, 2024 - academic.oup.com
STUDY QUESTION Is it possible to find the cause of primary ovarian insufficiency (POI) in
more women by extensive screening? SUMMARY ANSWER Adding next generation …
more women by extensive screening? SUMMARY ANSWER Adding next generation …
What do cancer genetic providers want us to know about variant reclassification and recontact that we are not asking? A thematic analysis of open‐ended survey …
K Brown, M Ponton, E Davidson, B Arun, RJ Volk… - Cancer, 2024 - Wiley Online Library
Background Accurate variant classification and relaying reclassified results to patients is
critical for hereditary cancer care delivery. Over a 5‐to 10‐year period, 6%–15% of variants …
critical for hereditary cancer care delivery. Over a 5‐to 10‐year period, 6%–15% of variants …
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and …
T Pal, KR Schon, E Astiazaran-Symonds, J Balmaña… - Genetics in …, 2024 - Elsevier
Purpose ATM germline pathogenic variants (GPVs) are associated with a moderately
increased risk of female breast cancer, pancreatic cancer, and prostate cancer. Resources …
increased risk of female breast cancer, pancreatic cancer, and prostate cancer. Resources …
Practices and views of US oncologists and genetic counselors regarding patient recontact after variant reclassification: results of a nationwide survey
S Makhnoon, E Davidson, B Shirts, B Arun… - JCO Precision …, 2023 - ascopubs.org
PURPOSE Over a 5-year or 10-year period, between 6% and 15% of germline cancer
genetic variants undergo reclassification. Up-to-date interpretation can clarify a variant's …
genetic variants undergo reclassification. Up-to-date interpretation can clarify a variant's …
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres
C Fortuno, EJ Cops, AL Davidson, J Hadler… - European Journal of …, 2024 - nature.com
Breast cancer remains a significant global health challenge. In Australia, the adoption of
publicly-funded multigene panel testing for eligible cancer patients has increased …
publicly-funded multigene panel testing for eligible cancer patients has increased …
Reflexive standardization and the resolution of uncertainty in the genomics clinic
A Hedgecoe, K Job, A Clarke - Social studies of science, 2023 - journals.sagepub.com
In genomics, the clinical application of Next Generation Sequencing technologies (such as
Whole Genome or Exome Sequencing) has attracted considerable attention from UK …
Whole Genome or Exome Sequencing) has attracted considerable attention from UK …
Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study
L Wedd, M Gleeson, B Meiser, R O'Shea… - Journal of Community …, 2023 - Springer
The complexity of genetic variant interpretation means that a proportion of individuals who
undergo genetic testing for a hereditary cancer syndrome will have their test result …
undergo genetic testing for a hereditary cancer syndrome will have their test result …