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Prevalence of BRCA1...
Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort
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- Li, Jingmei (author)
- Karolinska Institute,A*Star, Genome Institute of Singapore (GIS),National University of Singapore
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- Wen, Wei Xiong (author)
- Sime Darby Medical Centre
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- Eklund, Martin (author)
- Karolinska Institutet,Karolinska Institute
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- Kvist, Anders (author)
- Lund University,Lunds universitet,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Familial Breast Cancer,Lund University Research Groups
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- Eriksson, Mikael (author)
- Karolinska Institutet,Karolinska Institute
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- Christensen, Helene Nordahl (author)
- AstraZeneca, Sweden
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- Torstensson, Astrid (author)
- AstraZeneca, Sweden
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- Bajalica-Lagercrantz, Svetlana (author)
- Karolinska Institutet,Karolinska University Hospital
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- Dunning, Alison M. (author)
- University of Cambridge
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- Decker, Brennan (author)
- University of Cambridge,Brigham and Women's Hospital / Harvard Medical School,National Human Genome Research Institute
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- Allen, Jamie (author)
- University of Cambridge
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- Luccarini, Craig (author)
- University of Cambridge
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- Pooley, Karen (author)
- University of Cambridge
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- Simard, Jacques (author)
- Centre hospitalier universitaire de Québec,Laval University
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- Dorling, Leila (author)
- University of Cambridge
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- Easton, Douglas F. (author)
- University of Cambridge
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- Teo, Soo Hwang (author)
- Sime Darby Medical Centre
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- Hall, Per (author)
- Karolinska Institutet,Karolinska Institute
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- Borg, Åke (author)
- Lund University,Lunds universitet,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Familial Breast Cancer,Lund University Research Groups
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- Grönberg, Henrik (author)
- Karolinska Institutet,Karolinska Institute
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- Czene, Kamila (author)
- Karolinska Institutet,Karolinska Institute
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(creator_code:org_t)
- 2018-11-09
- 2019
- English.
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In: International Journal of Cancer. - : Wiley. - 0020-7136 .- 1097-0215. ; 144:5, s. 1195-1204
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- BRCA1
- BRCA2
- breast cancer
- clinical testing
- next-generation sequencing
- prediction
- screening criteria
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Li, Jingmei
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Wen, Wei Xiong
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Eklund, Martin
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Kvist, Anders
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Eriksson, Mikael
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Christensen, Hel ...
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show more...
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Torstensson, Ast ...
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Bajalica-Lagercr ...
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Dunning, Alison ...
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Decker, Brennan
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Allen, Jamie
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Luccarini, Craig
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Pooley, Karen
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Simard, Jacques
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Dorling, Leila
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Easton, Douglas ...
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Teo, Soo Hwang
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Hall, Per
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Borg, Åke
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Grönberg, Henrik
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Czene, Kamila
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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International Jo ...
- By the university
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Lund University
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Karolinska Institutet