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Sökning: onr:"swepub:oai:lup.lub.lu.se:cc5434bb-eeb5-4cba-9262-f634f9699d09" > Prevalence of BRCA1...

  • Li, JingmeiKarolinska Institute,A*Star, Genome Institute of Singapore (GIS),National University of Singapore (författare)

Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort

  • Artikel/kapitelEngelska2019

Förlag, utgivningsår, omfång ...

  • 2018-11-09
  • Wiley,2019

Nummerbeteckningar

  • LIBRIS-ID:oai:lup.lub.lu.se:cc5434bb-eeb5-4cba-9262-f634f9699d09
  • https://lup.lub.lu.se/record/cc5434bb-eeb5-4cba-9262-f634f9699d09URI
  • https://doi.org/10.1002/ijc.31841DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:139956640URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:art swepub-publicationtype
  • Ämneskategori:ref swepub-contenttype

Anmärkningar

  • Breast cancer patients with BRCA1/2-driven tumors may benefit from targeted therapy. It is not clear whether current BRCA screening guidelines are effective at identifying these patients. The purpose of our study was to evaluate the prevalence of inherited BRCA1/2 pathogenic variants in a large, clinically representative breast cancer cohort and to estimate the proportion of BRCA1/2 carriers not detected by selectively screening individuals with the highest probability of being carriers according to current clinical guidelines. The study included 5,122 unselected Swedish breast cancer patients diagnosed from 2001 to 2008. Target sequence enrichment (48.48 Fluidigm Access Arrays) and sequencing were performed (Illumina Hi-Seq 2,500 instrument, v4 chemistry). Differences in patient and tumor characteristics of BRCA1/2 carriers who were already identified as part of clinical BRCA1/2 testing routines and additional BRCA1/2 carriers found by sequencing the entire study population were compared using logistic regression models. Ninety-two of 5,099 patients with valid variant calls were identified as BRCA1/2 carriers by screening all study participants (1.8%). Only 416 study participants (8.2%) were screened as part of clinical practice, but this identified 35 out of 92 carriers (38.0%). Clinically identified carriers were younger, less likely postmenopausal and more likely to be associated with familiar ovarian cancer compared to the additional carriers identified by screening all patients. More BRCA2 (34/42, 81.0%) than BRCA1 carriers (23/50, 46%) were missed by clinical screening. In conclusion, BRCA1/2 mutation prevalence in unselected breast cancer patients was 1.8%. Six in ten BRCA carriers were not detected by selective clinical screening of individuals.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Wen, Wei XiongSime Darby Medical Centre (författare)
  • Eklund, MartinKarolinska Institutet,Karolinska Institute (författare)
  • Kvist, AndersLund University,Lunds universitet,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Familial Breast Cancer,Lund University Research Groups(Swepub:lu)ekol-akv (författare)
  • Eriksson, MikaelKarolinska Institutet,Karolinska Institute (författare)
  • Christensen, Helene NordahlAstraZeneca, Sweden (författare)
  • Torstensson, AstridAstraZeneca, Sweden (författare)
  • Bajalica-Lagercrantz, SvetlanaKarolinska Institutet,Karolinska University Hospital (författare)
  • Dunning, Alison M.University of Cambridge (författare)
  • Decker, BrennanUniversity of Cambridge,Brigham and Women's Hospital / Harvard Medical School,National Human Genome Research Institute (författare)
  • Allen, JamieUniversity of Cambridge (författare)
  • Luccarini, CraigUniversity of Cambridge (författare)
  • Pooley, KarenUniversity of Cambridge (författare)
  • Simard, JacquesCentre hospitalier universitaire de Québec,Laval University (författare)
  • Dorling, LeilaUniversity of Cambridge (författare)
  • Easton, Douglas F.University of Cambridge (författare)
  • Teo, Soo HwangSime Darby Medical Centre (författare)
  • Hall, PerKarolinska Institutet,Karolinska Institute (författare)
  • Borg, ÅkeLund University,Lunds universitet,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Familial Breast Cancer,Lund University Research Groups(Swepub:lu)onk-abo (författare)
  • Grönberg, HenrikKarolinska Institutet,Karolinska Institute (författare)
  • Czene, KamilaKarolinska Institutet,Karolinska Institute (författare)
  • Karolinska InstituteA*Star, Genome Institute of Singapore (GIS) (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:International Journal of Cancer: Wiley144:5, s. 1195-12040020-71361097-0215

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