Development of an Open Database of Genes Included in Hereditary Cancer Genetic Testing Panels Available From Major Sources in the US
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Oncology"
DOI: 10.1001/jamaoncol.2021.7639
Abstract: This quality improvement study describes the development of an open database of genes included in hereditary cancer genetic testing panels from major US providers and also discusses publicly available variant data for those genes. read more here.
Keywords: included hereditary; genes included; development open; hereditary cancer ... See more keywords
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
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DOI: 10.1001/jamaoncol.2022.0373
Abstract: Importance Knowledge about the spectrum of diseases associated with hereditary cancer syndromes may improve disease diagnosis and management for patients and help to identify high-risk individuals. Objective To identify phenotypes associated with hereditary cancer genes… read more here.
Keywords: pathogenic variants; cancer genes; variants hereditary; hereditary cancer ... See more keywords
Identification of hereditary cancer in the general population: development and validation of a screening questionnaire for obtaining the family history of cancer
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DOI: 10.1002/cam4.1210
Abstract: One of the challenges for Latin American countries is to include in their healthcare systems technologies that can be applied to hereditary cancer detection and management. The aim of the study is to create and… read more here.
Keywords: hereditary cancer; validation; psq; screening questionnaire ... See more keywords
Principles of molecular testing for hereditary cancer
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DOI: 10.1002/gcc.23048
Abstract: Molecular testing for hereditary cancers has rapidly advanced over the past two decades. Next‐generation sequencing has been widely adopted, which has made molecular testing increasingly accessible, and large gene panels are now routinely used in… read more here.
Keywords: molecular testing; principles molecular; etiology; hereditary cancer ... See more keywords
Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions
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DOI: 10.1002/humu.24468
Abstract: 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 ClinVar to examine how variant classification changes over time.… read more here.
Keywords: need regular; clinvar; aggregate classification; classification ... See more keywords
Advocating for equitable management of hereditary cancer syndromes.
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DOI: 10.1002/jgc4.1548
Abstract: The potential for preventive medicine to lead to more equitable health outcomes exists with the inclusion of genetic testing in medicine. Because of the medical implications of genetic testing for hereditary cancer syndromes and the financial… read more here.
Keywords: cancer; medicine; cancer syndromes; access ... See more keywords
Genetic counselors' experience with reimbursement and patient out‐of‐pocket cost for multi‐cancer gene panel testing for hereditary cancer syndromes
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DOI: 10.1002/jgc4.1614
Abstract: Multi‐cancer gene panels for hereditary cancer syndromes (hereditary cancer panels, HCPs) are widely available, and some laboratories have programs that limit patients' out‐of‐pocket (OOP) cost share. However, little is known about practices by cancer genetic… read more here.
Keywords: genetic counselors; patient; hereditary cancer; genetic counseling ... See more keywords
Performance of the shared decision-making process scale for use in evaluation of hereditary cancer genetic testing decisions.
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DOI: 10.1002/jgc4.1704
Abstract: This study aimed to evaluate feasibility, acceptability, reliability, and validity of the existing four-item Shared Decision Making (SDM) Process Scale for use in evaluating genetic testing decisions. Patients from a large hereditary cancer genetics practice… read more here.
Keywords: sdm process; process scale; genetic testing; hereditary cancer ... See more keywords
Evaluating attributes of a collaborative model of service delivery for hereditary cancer risk assessment.
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DOI: 10.1002/jgc4.1722
Abstract: The purpose of this nonrandomized study was to compare several attributes of hereditary cancer risk assessment using a collaborative model of service delivery. Arm 1 included patients seen in-person by a board-certified genetic counselor (CGC),… read more here.
Keywords: collaborative model; arm; hereditary cancer; risk assessment ... See more keywords
Screening and surgical prophylaxis for hereditary cancer syndromes with high risk of endometrial and ovarian cancer
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DOI: 10.1002/jso.25645
Abstract: In the era of advanced cancer genomics, our recognition of hereditary cancer mutations continues to increase. Two of these conditions, which carry an increased risk of female cancers including endometrial, ovarian, breast, are hereditary breast… read more here.
Keywords: risk; hereditary cancer; endometrial ovarian; ovarian cancer ... See more keywords
Clinical outcomes of preimplantation genetic testing for hereditary cancer syndromes: A systematic review
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DOI: 10.1002/pd.6084
Abstract: To conduct a systematic review of the published literature on clinical outcomes following preimplantation genetic testing for monogenic disorders (PGT‐M) for hereditary cancer syndromes (HCS). read more here.
Keywords: clinical outcomes; preimplantation genetic; genetic testing; systematic review ... See more keywords