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dc.contributor.authorKhalique, S
dc.contributor.authorPettitt, SJ
dc.contributor.authorKelly, G
dc.contributor.authorTunariu, N
dc.contributor.authorNatrajan, R
dc.contributor.authorBanerjee, S
dc.contributor.authorLord, CJ
dc.date.accessioned2020-05-28T11:01:23Z
dc.date.issued2020-01
dc.identifier.citationThe journal of pathology. Clinical research, 2020, 6 (1), pp. 3 - 11
dc.identifier.issn2056-4538
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3645
dc.identifier.eissn2056-4538
dc.identifier.doi10.1002/cjp2.146
dc.description.abstractDevelopment of resistance to platinum and poly(ADP-ribose) polymerase inhibitors via secondary BRCA gene mutations that restore functional homologous recombination has been observed in a number of cancer types. Here we report a case of somatic BRCA2 mutation in a patient with high grade serous ovarian carcinoma. A secondary mutation predicted to restore the BRCA2 open reading frame was detected at low frequency (2.3%) in whole exome sequencing of a peritoneal biopsy at disease progression after treatment that included carboplatin and olaparib. We used digital droplet PCR (ddPCR) to verify the presence and frequency of this mutation in the biopsy sample at progression and also used this approach to assess the presence of the secondary mutation in preceding biopsies at diagnosis and first relapse. We found no evidence for the secondary mutation being present prior to the final progression biopsy, suggesting that this mutation was acquired late in the course of treatment. ddPCR provides a sensitive and specific technique to investigate the presence of low frequency mutations in a time series of biopsies.
dc.formatPrint-Electronic
dc.format.extent3 - 11
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleLongitudinal analysis of a secondary BRCA2 mutation using digital droplet PCR.
dc.typeJournal Article
dcterms.dateAccepted2019-09-16
rioxxterms.versionofrecord10.1002/cjp2.146
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2020-01
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfThe journal of pathology. Clinical research
pubs.issue1
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genomics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Gene Function
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Functional Genomics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Gene Function
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/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genomics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Gene Function
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Functional Genomics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Gene Function
pubs.organisational-group/ICR/Primary Group/Royal Marsden Clinical Units
pubs.publication-statusPublished
pubs.volume6
pubs.embargo.termsNot known
icr.researchteamFunctional Genomicsen_US
icr.researchteamGene Functionen_US
dc.contributor.icrauthorNatrajan, Rachaelen
dc.contributor.icrauthorPettitt, Stephenen
dc.contributor.icrauthorLord, Christopheren
dc.contributor.icrauthorBanerjee, Susanaen


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Except where otherwise noted, this item's license is described as https://creativecommons.org/licenses/by/4.0