[HTML][HTML] BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance
DM Eccles, G Mitchell, ANA Monteiro, R Schmutzler… - Annals of oncology, 2015 - Elsevier
Background Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension
of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation screening from …
of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation screening from …
[HTML][HTML] Family adjustment to hereditary cancer syndromes: a systematic review
P Gomes, G Pietrabissa, ER Silva, J Silva… - International Journal of …, 2022 - mdpi.com
Hereditary cancer syndromes are inherited pathogenic genetic variants that significantly
increase the risk of developing cancer. When individuals become aware of their increased …
increase the risk of developing cancer. When individuals become aware of their increased …
[HTML][HTML] Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers
EM Grindedal, C Heramb, I Karsrud, SL Ariansen… - BMC cancer, 2017 - Springer
Background Identification of BRCA mutations in breast cancer (BC) patients influences
treatment and survival and may be of importance for their relatives. Testing is often restricted …
treatment and survival and may be of importance for their relatives. Testing is often restricted …
[HTML][HTML] Variants of unknown significance in BRCA testing: impact on risk perception, worry, prevention and counseling
S Richter, I Haroun, TC Graham, A Eisen, A Kiss… - Annals of …, 2013 - Elsevier
Background Sequence-based BRCA testing can identify variants of unknown significance
(VUS). Relatively little is known about how well a test outcome of VUS is understood by …
(VUS). Relatively little is known about how well a test outcome of VUS is understood by …
Patients' perspectives of variants of uncertain significance and strategies for uncertainty management
S Makhnoon, BH Shirts… - Journal of genetic …, 2019 - Wiley Online Library
Variants of uncertain significance (VUS) are a well‐recognized source of uncertainty in
genomic medicine. Despite the existence of straightforward clinical management …
genomic medicine. Despite the existence of straightforward clinical management …
[HTML][HTML] Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists
J El Mecky, L Johansson, M Plantinga, A Fenwick… - BMC medical …, 2019 - Springer
Background In recent years, the amount of genomic data produced in clinical genetics
services has increased significantly due to the advent of next-generation sequencing. This …
services has increased significantly due to the advent of next-generation sequencing. This …
[HTML][HTML] Communication about genetic testing with breast and ovarian cancer patients: a scoping review
Genetic testing of patients with cancer is increasingly offered to guide management,
resulting in a growing need for oncology health professionals to communicate genetics …
resulting in a growing need for oncology health professionals to communicate genetics …
Molecular testing in breast cancer: a guide to current practices
IS Hagemann - Archives of Pathology & Laboratory …, 2016 - meridian.allenpress.com
Context.—Molecular diagnostics play a role in the management of many cancers, including
breast cancer. Objective.—To provide an update on molecular testing in current clinical …
breast cancer. Objective.—To provide an update on molecular testing in current clinical …
Psychiatric implications of cancer genetic testing
AM Hirschberg, G Chan‐Smutko, WF Pirl - Cancer, 2015 - Wiley Online Library
As genetic testing for hereditary cancer syndromes has transitioned from research to clinical
settings, research regarding its accompanying psychosocial effects has grown. Men and …
settings, research regarding its accompanying psychosocial effects has grown. Men and …
Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain
I Esteban, M Vilaró, E Adrover, A Angulo… - Psycho …, 2018 - Wiley Online Library
Objective Patients' psychological reactions to multigene cancer panel testing might differ
compared with the single‐gene testing reactions because of the complexity and uncertainty …
compared with the single‐gene testing reactions because of the complexity and uncertainty …