New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study

Hdl Handle:
http://hdl.handle.net/10034/610405
Title:
New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study
Authors:
Plaskocinska, Inga; Shipman, Hannah; Drummond, James; Thompson, Edward; Buchanan, Vanessa; Newcombe, Barbara; Hodgkin, Charlotte; Barter, Elisa; Ridley, Paul; Ng, Rita; Miller, Suzanne; Dann, Adela; Licence, Victoria; Webb, Hayley; Tan, Li T.; Daly, Margaret; Ayers, Sarah; Rufford, Barnaby; Earl, Helena; Parkinson, Christine; Duncan, Timothy; Jimenez-Liman, Mercedes; Sagoo, Gurdeep S.; Abbs, Stephen; Hulbert-Williams, Nicholas J.; Pharoah, Paul D. P.; Crawford, Robin; Brenton, James; Tischkowitz, Marc
Abstract:
Background: Over recent years genetic testing for germline mutations in BRCA1/BRCA2 has become more readily available because of technological advances and reducing costs. The Genetic Testing in Epithelial Ovarian Cancer (GTEOC) Study explored the feasibility and acceptability of offering genetic testing to all women recently diagnosed with epithelial ovarian cancer (EOC). Methods: From 1st July 2013 to 30th June 2015 women newly diagnosed with EOC were recruited through six sites in East Anglia, UK. Eligibility was irrespective of patient age and family history of cancer. The psychosocial arm of the study utilised self-report, psychometrically validated questionnaires (Depression Anxiety and Stress Scale, DASS-21; Impact of Event Scale, IES) and cost analysis was performed. Results: 232 women were recruited and 18 mutations were detected (12 in BRCA1, 6 in BRCA2) giving a mutation yield of 8% which increases to 12% in unselected women <70 years (17/146) and 1% in unselected women >70 years (1/86). IES and DASS-21 scores in response to genetic testing were significantly lower than equivalent scores in response to cancer diagnosis (p<.001). Correlation tests indicated that whilst older age is a protective factor against any traumatic impacts of genetic testing, no significant correlation exists between age and distress outcomes. Conclusion: The mutation yield in unselected women diagnosed with EOC from a heterogeneous population with no founder mutations was 8% in all ages and 12% in women under 70. Unselected genetic testing in women with EOC was acceptable to patients and is potentially less resource-intensive than current standard practice.
Affiliation:
University of Cambridge; Cambridge University Hospitals NHS; PHG Foundation; Peterborough and Stamford Hospitals NHS Foundation; The Ipswich Hospital NHS Trust; Hinchingbrooke Health; Norfolk & Norwich University Hospitals NHS Foundation Trust; The Queen Elizabeth Hospital King’s Lynn NHS Foundation Trust; University of Cambridge Department of Oncology and NIHR Cambridge Biomedical Research Centre; University of Chester; Cancer Research UK Cambridge Institute
Citation:
Plaskocinska, I., et. al. (2016). New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer – results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) Study. Journal of Medical Genetics, 53(10), 655-61. DOI: 10.1136/ jmedgenet-2016-103902
Journal:
Journal of Medical Genetics
Publication Date:
12-May-2016
URI:
http://hdl.handle.net/10034/610405
DOI:
10.1136/ jmedgenet-2016-103902
Additional Links:
http://jmg.bmj.com/content/early/2016/05/12/jmedgenet-2016-103902.short
Type:
Article
Language:
en
EISSN:
1468-6244
Appears in Collections:
Psychology

Full metadata record

DC FieldValue Language
dc.contributor.authorPlaskocinska, Ingaen
dc.contributor.authorShipman, Hannahen
dc.contributor.authorDrummond, Jamesen
dc.contributor.authorThompson, Edwarden
dc.contributor.authorBuchanan, Vanessaen
dc.contributor.authorNewcombe, Barbaraen
dc.contributor.authorHodgkin, Charlotteen
dc.contributor.authorBarter, Elisaen
dc.contributor.authorRidley, Paulen
dc.contributor.authorNg, Ritaen
dc.contributor.authorMiller, Suzanneen
dc.contributor.authorDann, Adelaen
dc.contributor.authorLicence, Victoriaen
dc.contributor.authorWebb, Hayleyen
dc.contributor.authorTan, Li T.en
dc.contributor.authorDaly, Margareten
dc.contributor.authorAyers, Sarahen
dc.contributor.authorRufford, Barnabyen
dc.contributor.authorEarl, Helenaen
dc.contributor.authorParkinson, Christineen
dc.contributor.authorDuncan, Timothyen
dc.contributor.authorJimenez-Liman, Mercedesen
dc.contributor.authorSagoo, Gurdeep S.en
dc.contributor.authorAbbs, Stephenen
dc.contributor.authorHulbert-Williams, Nicholas J.en
dc.contributor.authorPharoah, Paul D. P.en
dc.contributor.authorCrawford, Robinen
dc.contributor.authorBrenton, Jamesen
dc.contributor.authorTischkowitz, Marcen
dc.date.accessioned2016-05-20T09:35:01Zen
dc.date.available2016-05-20T09:35:01Zen
dc.date.issued2016-05-12en
dc.identifier.citationPlaskocinska, I., et. al. (2016). New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer – results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) Study. Journal of Medical Genetics, 53(10), 655-61. DOI: 10.1136/ jmedgenet-2016-103902en
dc.identifier.doi10.1136/ jmedgenet-2016-103902en
dc.identifier.urihttp://hdl.handle.net/10034/610405en
dc.description.abstractBackground: Over recent years genetic testing for germline mutations in BRCA1/BRCA2 has become more readily available because of technological advances and reducing costs. The Genetic Testing in Epithelial Ovarian Cancer (GTEOC) Study explored the feasibility and acceptability of offering genetic testing to all women recently diagnosed with epithelial ovarian cancer (EOC). Methods: From 1st July 2013 to 30th June 2015 women newly diagnosed with EOC were recruited through six sites in East Anglia, UK. Eligibility was irrespective of patient age and family history of cancer. The psychosocial arm of the study utilised self-report, psychometrically validated questionnaires (Depression Anxiety and Stress Scale, DASS-21; Impact of Event Scale, IES) and cost analysis was performed. Results: 232 women were recruited and 18 mutations were detected (12 in BRCA1, 6 in BRCA2) giving a mutation yield of 8% which increases to 12% in unselected women <70 years (17/146) and 1% in unselected women >70 years (1/86). IES and DASS-21 scores in response to genetic testing were significantly lower than equivalent scores in response to cancer diagnosis (p<.001). Correlation tests indicated that whilst older age is a protective factor against any traumatic impacts of genetic testing, no significant correlation exists between age and distress outcomes. Conclusion: The mutation yield in unselected women diagnosed with EOC from a heterogeneous population with no founder mutations was 8% in all ages and 12% in women under 70. Unselected genetic testing in women with EOC was acceptable to patients and is potentially less resource-intensive than current standard practice.en
dc.language.isoenen
dc.relation.urlhttp://jmg.bmj.com/content/early/2016/05/12/jmedgenet-2016-103902.shorten
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/en
dc.subjectBRCA1en
dc.subjectBRCA2en
dc.subjectGenetic counsellingen
dc.subjectMutation carriersen
dc.subjectCost analysisen
dc.subjectCanceren
dc.subjectPsychosocial oncologyen
dc.titleNew paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) studyen
dc.typeArticleen
dc.identifier.eissn1468-6244en
dc.contributor.departmentUniversity of Cambridge; Cambridge University Hospitals NHS; PHG Foundation; Peterborough and Stamford Hospitals NHS Foundation; The Ipswich Hospital NHS Trust; Hinchingbrooke Health; Norfolk & Norwich University Hospitals NHS Foundation Trust; The Queen Elizabeth Hospital King’s Lynn NHS Foundation Trust; University of Cambridge Department of Oncology and NIHR Cambridge Biomedical Research Centre; University of Chester; Cancer Research UK Cambridge Instituteen
dc.identifier.journalJournal of Medical Geneticsen
dc.date.accepted2016-04-19en
or.grant.openaccessYesen
rioxxterms.funderTarget Ovarian Canceren
rioxxterms.identifier.projectT005MTen
rioxxterms.versionAMen
rioxxterms.licenseref.startdate2017-05-12en
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