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Genomic analysis defines clonal relationships of ductal carcinoma in situ and recurrent invasive breast cancer.

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cam.issuedOnline2022-06-09
dc.contributor.authorLips, Esther H
dc.contributor.authorKumar, Tapsi
dc.contributor.authorMegalios, Anargyros
dc.contributor.authorVisser, Lindy L
dc.contributor.authorSheinman, Michael
dc.contributor.authorFortunato, Angelo
dc.contributor.authorShah, Vandna
dc.contributor.authorHoogstraat, Marlous
dc.contributor.authorSei, Emi
dc.contributor.authorMallo, Diego
dc.contributor.authorRoman-Escorza, Maria
dc.contributor.authorAhmed, Ahmed A
dc.contributor.authorXu, Mingchu
dc.contributor.authorvan den Belt-Dusebout, Alexandra W
dc.contributor.authorBrugman, Wim
dc.contributor.authorCasasent, Anna K
dc.contributor.authorClements, Karen
dc.contributor.authorDavies, Helen R
dc.contributor.authorFu, Liping
dc.contributor.authorGrigoriadis, Anita
dc.contributor.authorHardman, Timothy M
dc.contributor.authorKing, Lorraine M
dc.contributor.authorKrete, Marielle
dc.contributor.authorKristel, Petra
dc.contributor.authorde Maaker, Michiel
dc.contributor.authorMaley, Carlo C
dc.contributor.authorMarks, Jeffrey R
dc.contributor.authorMenegaz, Brian A
dc.contributor.authorMulder, Lennart
dc.contributor.authorNieboer, Frank
dc.contributor.authorNowinski, Salpie
dc.contributor.authorPinder, Sarah
dc.contributor.authorQuist, Jelmar
dc.contributor.authorSalinas-Souza, Carolina
dc.contributor.authorSchaapveld, Michael
dc.contributor.authorSchmidt, Marjanka K
dc.contributor.authorShaaban, Abeer M
dc.contributor.authorShami, Rana
dc.contributor.authorSridharan, Mathini
dc.contributor.authorZhang, John
dc.contributor.authorStobart, Hilary
dc.contributor.authorCollyar, Deborah
dc.contributor.authorNik-Zainal, Serena
dc.contributor.authorWessels, Lodewyk FA
dc.contributor.authorHwang, E Shelley
dc.contributor.authorNavin, Nicholas E
dc.contributor.authorFutreal, P Andrew
dc.contributor.authorGrand Challenge PRECISION consortium
dc.contributor.authorThompson, Alastair M
dc.contributor.authorWesseling, Jelle
dc.contributor.authorSawyer, Elinor J
dc.contributor.orcidLips, Esther H [0000-0003-3488-4935]
dc.contributor.orcidKumar, Tapsi [0000-0003-2825-3387]
dc.contributor.orcidMegalios, Anargyros [0000-0002-7363-5184]
dc.contributor.orcidVisser, Lindy L [0000-0001-7856-1981]
dc.contributor.orcidHoogstraat, Marlous [0000-0002-4916-1177]
dc.contributor.orcidMallo, Diego [0000-0002-9046-8859]
dc.contributor.orcidRoman-Escorza, Maria [0000-0002-6259-5025]
dc.contributor.orcidAhmed, Ahmed A [0000-0002-0409-7589]
dc.contributor.orcidClements, Karen [0000-0003-0113-4409]
dc.contributor.orcidGrigoriadis, Anita [0000-0003-3434-201X]
dc.contributor.orcidMaley, Carlo C [0000-0002-0745-7076]
dc.contributor.orcidMenegaz, Brian A [0000-0002-3020-5790]
dc.contributor.orcidPinder, Sarah [0000-0003-4167-8910]
dc.contributor.orcidShaaban, Abeer M [0000-0001-5784-8705]
dc.contributor.orcidCollyar, Deborah [0000-0003-0886-0964]
dc.contributor.orcidNik-Zainal, Serena [0000-0001-5054-1727]
dc.contributor.orcidWessels, Lodewyk FA [0000-0002-1656-6995]
dc.contributor.orcidNavin, Nicholas E [0000-0002-2106-8624]
dc.contributor.orcidFutreal, P Andrew [0000-0001-8663-2671]
dc.contributor.orcidWesseling, Jelle [0000-0002-8940-2676]
dc.contributor.orcidSawyer, Elinor J [0000-0001-8285-4111]
dc.date.accessioned2022-06-14T16:00:57Z
dc.date.available2022-06-14T16:00:57Z
dc.date.issued2022-06
dc.date.submitted2021-09-17
dc.date.updated2022-06-14T16:00:55Z
dc.descriptionFunder: Career Development and Innovation Cancer Award, Guys & St Thomas’ Charity and the Cancer Research UK King’s Health Partners Centre at King’s College London.
dc.descriptionFunder: T32 Translational Genomics Fellowship (NIH)
dc.descriptionFunder: Single Cell Genomics CPRIT Core Facilities Grant (RP180684).
dc.description.abstractDuctal carcinoma in situ (DCIS) is the most common form of preinvasive breast cancer and, despite treatment, a small fraction (5-10%) of DCIS patients develop subsequent invasive disease. A fundamental biologic question is whether the invasive disease arises from tumor cells in the initial DCIS or represents new unrelated disease. To address this question, we performed genomic analyses on the initial DCIS lesion and paired invasive recurrent tumors in 95 patients together with single-cell DNA sequencing in a subset of cases. Our data show that in 75% of cases the invasive recurrence was clonally related to the initial DCIS, suggesting that tumor cells were not eliminated during the initial treatment. Surprisingly, however, 18% were clonally unrelated to the DCIS, representing new independent lineages and 7% of cases were ambiguous. This knowledge is essential for accurate risk evaluation of DCIS, treatment de-escalation strategies and the identification of predictive biomarkers.
dc.identifier.doi10.17863/CAM.85499
dc.identifier.eissn1546-1718
dc.identifier.issn1061-4036
dc.identifier.others41588-022-01082-3
dc.identifier.other1082
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/338090
dc.languageen
dc.publisherSpringer Science and Business Media LLC
dc.subjectArticle
dc.subject/631/67/1347
dc.subject/631/208/514/1948
dc.subjectarticle
dc.titleGenomic analysis defines clonal relationships of ductal carcinoma in situ and recurrent invasive breast cancer.
dc.typeArticle
dcterms.dateAccepted2022-04-22
prism.endingPage860
prism.issueIdentifier6
prism.publicationNameNat Genet
prism.startingPage850
prism.volume54
pubs.funder-project-idCancer Research UK (23916)
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
rioxxterms.versionVoR
rioxxterms.versionofrecord10.1038/s41588-022-01082-3

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