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

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

Li, Jingmei, (författare)
National University of Singapore, A*Star, Genome Institute of Singapore (GIS), Karolinska Institutet
Wen, Wei Xiong, (författare)
Sime Darby Medical Centre
Eklund, Martin, (författare)
Karolinska Institutet
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Kvist, Anders, (författare)
Forskargrupper vid Lunds universitet, Lund University Research Groups, Lunds universitet, Lund University, Familjär bröstcancer, Familial Breast Cancer
Eriksson, Mikael, (författare)
Karolinska Institutet
Christensen, Helene Nordahl, (författare)
AstraZeneca, Sweden
Torstensson, Astrid, (författare)
AstraZeneca, Sweden
Bajalica-Lagercrantz, Svetlana, (författare)
Karolinska University Hospital
Dunning, Alison M., (författare)
University of Cambridge
Decker, Brennan, (författare)
Brigham and Women's Hospital / Harvard Medical School, University of Cambridge, National Human Genome Research Institute
Allen, Jamie, (författare)
University of Cambridge
Luccarini, Craig, (författare)
University of Cambridge
Pooley, Karen, (författare)
University of Cambridge
Simard, Jacques, (författare)
Laval University, Centre hospitalier universitaire de Québec
Dorling, Leila, (författare)
University of Cambridge
Easton, Douglas F., (författare)
University of Cambridge
Teo, Soo Hwang, (författare)
Sime Darby Medical Centre
Hall, Per, (författare)
Karolinska Institutet
Borg, Åke, (författare)
Forskargrupper vid Lunds universitet, Lund University Research Groups, Lunds universitet, Lund University, Familjär bröstcancer, Familial Breast Cancer
Grönberg, Henrik, (författare)
Karolinska Institutet
Czene, Kamila, (författare)
Karolinska Institutet
Borg, A (författare)
Gronberg, H, (författare)
Karolinska Institutet
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Ingår i: International Journal of Cancer. - John Wiley & Sons. - 0020-7136. ; 144:5, s. 1195-1204
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
  • 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.


MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)


breast cancer
clinical testing
next-generation sequencing
screening criteria

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