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Retrospective genet...
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Augustinsson, AnnelieLund University,Lunds universitet,Vård i högteknologisk miljö,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Cancerepidemiologi & strål,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Care in high technological environments,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Cancerepidemiology and radiation,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Region Skåne
(författare)
Retrospective genetic testing (Traceback) in women with early-onset breast cancer after revised national guidelines : a clinical implementation study
Nummerbeteckningar
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LIBRIS-ID:oai:lup.lub.lu.se:44f98a14-e0c5-41f5-a2d3-82b452770198
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https://lup.lub.lu.se/record/44f98a14-e0c5-41f5-a2d3-82b452770198URI
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https://doi.org/10.1007/s10549-024-07288-9DOI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:art swepub-publicationtype
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Ämneskategori:ref swepub-contenttype
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Purpose: This study focused on identifying a hereditary predisposition in women previously diagnosed with early-onset breast cancer through a retrospective outreach activity (Traceback). The objectives were to evaluate the possible clinical implementation of a simplified Traceback strategy and to identify carriers of pathogenic variants among previously untested women. Methods: Three hundred and fifteen Traceback-eligible women diagnosed with breast cancer at 36–40 years in Southern Sweden between 2000 and 2019 were identified and offered an analysis of the genes ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, and RAD51D through a standardized letter. Women who chose to participate were asked about their experiences through a questionnaire. The workload for the study personnel was measured and recorded. Results: One hundred and seventy-six women underwent genetic testing and pathogenic variants were identified in 9.7%: ATM (n = 6), BARD1 (n = 1), BRCA1 (n = 3), CHEK2 (n = 5), and PALB2 (n = 2). Women with normal test results were informed through a standardized letter. Carriers of pathogenic variants were contacted by telephone and offered in-person genetic counseling. One hundred and thirty-four women returned the subsequent questionnaire. Most study participants were satisfied with both written pre- and post-test information and many expressed their gratitude. The extra workload as compared to routine clinical genetic counseling was modest (8 min per patient). Conclusion: The insights from the participants’ perspectives and sentiments throughout the process support the notion that the Traceback procedure is a safe and an appreciated complement to routine genetic counseling. The genetic yield of almost 10% also suggests that the associated extra workload for genetic counselors could be viewed as acceptable in clinical implementation scenarios.
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Biuppslag (personer, institutioner, konferenser, titlar ...)
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Loman, NiklasLund University,Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Bröst/ovarialcancer,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Breast/ovarian cancer,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital(Swepub:lu)onk-nlo
(författare)
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Ehrencrona, HansLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Region Skåne(Swepub:lu)med-hen
(författare)
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Vård i högteknologisk miljöForskargrupper vid Lunds universitet
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Breast Cancer Research and Treatment0167-6806
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