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dc.contributor.authorCapoluongo, E
dc.contributor.authorEllison, G
dc.contributor.authorLópez-Guerrero, JA
dc.contributor.authorPenault-Llorca, F
dc.contributor.authorLigtenberg, MJL
dc.contributor.authorBanerjee, S
dc.contributor.authorSinger, C
dc.contributor.authorFriedman, E
dc.contributor.authorMarkiefka, B
dc.contributor.authorSchirmacher, P
dc.contributor.authorBüttner, R
dc.contributor.authorvan Asperen, CJ
dc.contributor.authorRay-Coquard, I
dc.contributor.authorEndris, V
dc.contributor.authorKamel-Reid, S
dc.contributor.authorPercival, N
dc.contributor.authorBryce, J
dc.contributor.authorRöthlisberger, B
dc.contributor.authorSoong, R
dc.contributor.authorde Castro, DG
dc.date.accessioned2018-02-16T11:40:19Z
dc.date.issued2017-06
dc.identifier.citationSeminars in oncology, 2017, 44 (3), pp. 187 - 197
dc.identifier.issn0093-7754
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/1196
dc.identifier.eissn1532-8708
dc.identifier.doi10.1053/j.seminoncol.2017.08.004
dc.description.abstractThe approval, in 2015, of the first poly (adenosine diphosphate-ribose) polymerase inhibitor (PARPi; olaparib, Lynparza) for platinum-sensitive relapsed high-grade ovarian cancer with either germline or somatic BRCA1/2 deleterious mutations is changing the way that BRCA1/2 testing services are offered to patients with ovarian cancer. Ovarian cancer patients are now being referred for BRCA1/2 genetic testing for treatment decisions, in addition to familial risk estimation, and irrespective of a family history of breast or ovarian cancer. Furthermore, testing of tumor samples to identify the estimated 3%-9% of patients with somatic BRCA1/2 mutations who, in addition to germline carriers, could benefit from PARPi therapy is also now being considered. This new testing paradigm poses some challenges, in particular the technical and analytical difficulties of analyzing chemically challenged DNA derived from formalin-fixed, paraffin-embedded specimens. The current manuscript reviews some of these challenges and technical recommendations to consider when undertaking BRCA1/2 testing in tumor tissue samples to detect both germline and somatic BRCA1/2 mutations. Also provided are considerations for incorporating genetic analysis of ovarian tumor samples into the patient pathway and ethical requirements.
dc.formatPrint-Electronic
dc.format.extent187 - 197
dc.languageeng
dc.language.isoeng
dc.subjectHumans
dc.subjectOvarian Neoplasms
dc.subjectPiperazines
dc.subjectPhthalazines
dc.subjectBRCA1 Protein
dc.subjectBRCA2 Protein
dc.subjectGerm-Line Mutation
dc.subjectFemale
dc.subjectPractice Guidelines as Topic
dc.subjectGenetic Testing
dc.subjectHereditary Breast and Ovarian Cancer Syndrome
dc.subjectPoly(ADP-ribose) Polymerase Inhibitors
dc.titleGuidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients.
dc.typeJournal Article
dcterms.dateAccepted2017-08-28
rioxxterms.versionofrecord10.1053/j.seminoncol.2017.08.004
rioxxterms.licenseref.startdate2017-06
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfSeminars in oncology
pubs.issue3
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/Royal Marsden Clinical Units
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/Royal Marsden Clinical Units
pubs.publication-statusPublished
pubs.volume44
pubs.embargo.termsNot known
dc.contributor.icrauthorBanerjee, Susanaen
dc.contributor.icrauthorMarsden,en


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