Repository logo
 

Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial.

cam.issuedOnline2022-05-31
dc.contributor.authorArcher, Stephanie
dc.contributor.authorFennell, Nichola
dc.contributor.authorColvin, Ellen
dc.contributor.authorLaquindanum, Rozelle
dc.contributor.authorMills, Meredith
dc.contributor.authorDennis, Romy
dc.contributor.authorStutzin Donoso, Francisca
dc.contributor.authorGold, Rochelle
dc.contributor.authorFan, Alice
dc.contributor.authorDownes, Kate
dc.contributor.authorFord, James
dc.contributor.authorAntoniou, Antonis
dc.contributor.authorKurian, Allison W
dc.contributor.authorEvans, D Gareth
dc.contributor.authorTischkowitz, Marc
dc.contributor.orcidArcher, Stephanie [0000-0003-1349-7178]
dc.contributor.orcidFennell, Nichola [0000-0002-5711-6341]
dc.contributor.orcidStutzin Donoso, Francisca [0000-0003-1590-1226]
dc.contributor.orcidFan, Alice [0000-0002-4813-5444]
dc.contributor.orcidAntoniou, Antonis [0000-0001-9223-3116]
dc.contributor.orcidKurian, Allison W [0000-0002-6175-9470]
dc.contributor.orcidEvans, D Gareth [0000-0002-8482-5784]
dc.contributor.orcidTischkowitz, Marc [0000-0002-7880-0628]
dc.date.accessioned2022-06-07T08:12:10Z
dc.date.available2022-06-07T08:12:10Z
dc.date.issued2022-05-31
dc.date.updated2022-06-07T08:12:09Z
dc.description.abstractWomen who test positive for an inherited pathogenic/likely pathogenic gene variant in BRCA1, BRCA2, PALB2, CHEK2 and ATM are at an increased risk of developing certain types of cancer-specifically breast (all) and epithelial ovarian cancer (only BRCA1, BRCA2, PALB2). Women receive broad cancer risk figures that are not personalised (e.g., 44-63% lifetime risk of breast cancer for those with PALB2). Broad, non-personalised risk estimates may be problematic for women when they are considering how to manage their risk. Multifactorial-risk-prediction tools have the potential to deliver personalised risk estimates. These may be useful in the patient's decision-making process and impact uptake of risk-management options. This randomised control trial (registration number to follow), based in genetic centres in the UK and US, will randomise participants on a 1:1 basis to either receive conventional cancer risk estimates, as per routine clinical practice, or to receive a personalised risk estimate. This personalised risk estimate will be calculated using the CanRisk risk prediction tool, which combines the patient's genetic result, family history and polygenic risk score (PRS), along with hormonal and lifestyle factors. Women's decision-making around risk management will be monitored using questionnaires, completed at baseline (pre-appointment) and follow-up (one, three and twelve months after receiving their risk assessment). The primary outcome for this study is the type and timing of risk management options (surveillance, chemoprevention, surgery) taken up over the course of the study (i.e., 12 months). The type of risk-management options planned to be taken up in the future (i.e., beyond the end of the study) and the potential impact of personalised risk estimates on women's psychosocial health will be collected as secondary-outcome measures. This study will also assess the acceptability, feasibility and cost-effectiveness of using personalised risk estimates in clinical care.
dc.identifier.doi10.17863/CAM.85177
dc.identifier.eissn2072-6694
dc.identifier.issn2072-6694
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/337768
dc.languageen
dc.publisherMDPI AG
dc.subjectpersonalised risk prediction
dc.subjectbreast cancer
dc.subjectepithelial ovarian cancer
dc.subjectCanRisk
dc.subjectpolygenic risk scores
dc.subjectgenetics
dc.titlePersonalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial.
dc.typeOther
dcterms.dateAccepted2022-05-28
prism.issueIdentifier11
prism.publicationNameCancers (Basel)
prism.volume14
pubs.funder-project-idNational Institute for Health Research (IS-BRC-1215-20014)
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0/
rioxxterms.versionVoR
rioxxterms.versionofrecord10.3390/cancers14112716

Files

Original bundle
Now showing 1 - 3 of 3
No Thumbnail Available
Name:
cancers-14-02716.xml
Size:
16.15 KB
Format:
Extensible Markup Language
Description:
Bibliographic metadata
Licence
https://creativecommons.org/licenses/by/4.0/
No Thumbnail Available
Name:
additional-files.zip
Size:
940.64 KB
Format:
ZIP file
Description:
Supporting information
Licence
https://creativecommons.org/licenses/by/4.0/
Loading...
Thumbnail Image
Name:
cancers-14-02716.pdf
Size:
1.75 MB
Format:
Adobe Portable Document Format
Description:
Published version
Licence
https://creativecommons.org/licenses/by/4.0/