Toward a better understanding of the experience of patients with moderate penetrance breast cancer gene pathogenic/likely pathogenic variants: A focus on ATM and CHEK2.
This study explored the experiences of patients with pathogenic or likely pathogenic variants in the moderate penetrance breast cancer genes, ATM and CHEK2. There were 139 eligible female patients who received genetic counseling at the Massachusetts General Hospital Center for Cancer Risk Assessment...
| Publicado en: | Journal of Genetic Counseling Vol. 31; no. 4; pp. 956 - 965 |
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| Autores principales: | , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
Aug2022
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=158392096&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 158392096 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10597700 41A jtl: Journal of Genetic Counseling issn: 10597700 maglogo: N pubinfo: dt: Aug2022 vid: 31 iid: 4 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 158392096 155577129 158392096 158392096 10.1002/jgc4.1568 158392096 ppf: 956 ppct: 9 formats: fmt: – @attributes: type: T – @attributes: type: C – @attributes: type: P tig: atl: Toward a better understanding of the experience of patients with moderate penetrance breast cancer gene pathogenic/likely pathogenic variants: A focus on ATM and CHEK2. aug: au: McCormick, Shelley Hicks, Stephanie Wooters, Mackenzie Grant, Carly affil: Center for Cancer Risk Assessment, Massachusetts General Hospital, Boston Massachusetts, , USA sug: subj: Breast Neoplasms Familial and Genetic Breast Neoplasms Risk Factors Patient Attitudes Evaluation Phenotype Risk Assessment Human Female Genetic Counseling Genetics Attitude to Risk Health Knowledge Evaluation Genetic Screening Medication Compliance Medication Management Communication Extended Family Information Resources Information Needs Descriptive Statistics Needs Assessment Female ab: This study explored the experiences of patients with pathogenic or likely pathogenic variants in the moderate penetrance breast cancer genes, ATM and CHEK2. There were 139 eligible female patients who received genetic counseling at the Massachusetts General Hospital Center for Cancer Risk Assessment (MGH CCRA) from 2014 to 2018. They were sent surveys assessing their understanding of the clinical significance of their genetic test results, adherence to medical management recommendations, dissemination of genetic test results to relatives, and informational resource needs. In total, 66 surveys were returned with a response rate of 47.5%. Most participants reported understanding the clinical implications of their genetic test results and adhering to medical management recommendations. Although 20.3% found it upsetting, nearly all participants shared their genetic test results with relatives. When asked about resource needs, 54.5% reported seeking out additional resources. Our ATM/CHEK2 sample appears to have a good understanding of the personal and familial implications of their genetic test results but may benefit from additional resources. It is unclear whether similar results would be found in patients who do not receive genetic counseling from a board‐certified genetic counselor, and this should be examined. This study is one of the first to assess the experiences and needs of the moderate risk population. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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