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Gene-panel testing ...
Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication
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- Pelttari, L. M. (author)
- Helsinki University Central Hospital
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- Shimelis, H. (author)
- Mayo Clinic Minnesota
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- Toiminen, H. (author)
- Helsinki University Central Hospital
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- Kvist, A. (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Törngren, T. (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Borg, A. (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Blomqvist, C. (author)
- Helsinki University Central Hospital
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- Bützow, R. (author)
- Helsinki University Central Hospital
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- Couch, F. (author)
- Mayo Clinic Minnesota
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- Aittomäki, K. (author)
- Helsinki University Central Hospital
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- Nevanlinna, H. (author)
- Helsinki University Central Hospital
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(creator_code:org_t)
- 2018-01-12
- 2018
- English.
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In: Clinical Genetics. - : Wiley. - 0009-9163. ; 93:3, s. 595-602
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Abstract
Subject headings
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- Gene-panel sequencing allows comprehensive analysis of multiple genes simultaneously and is now routinely used in clinical mutation testing of high-risk breast and ovarian cancer patients. However, only BRCA1 and BRCA2 are often analyzed also for large genomic changes. Here, we have analyzed 10 clinically relevant susceptibility genes in 95 breast or ovarian cancer patients with gene-panel sequencing including also copy number variants (CNV) analysis for genomic changes. We identified 12 different pathogenic BRCA1, BRCA2, TP53, PTEN, CHEK2, or RAD51C mutations in 18 of 95 patients (19%). BRCA1/2 mutations were observed in 8 patients (8.4%) and CHEK2 protein-truncating mutations in 7 patients (7.4%). In addition, we identified a novel duplication encompassing most of the RAD51C gene. We further genotyped the duplication in breast or ovarian cancer families (n=1149), in unselected breast (n=1729) and ovarian cancer cohorts (n=553), and in population controls (n=1273). Seven additional duplication carries were observed among cases but none among controls. The duplication associated with ovarian cancer risk (3/590 of all ovarian cancer patients, 0.5%, P=.032 compared with controls) and was found to represent a large fraction of all identified RAD51C mutations in the Finnish population. Our data emphasizes the importance of comprehensive mutation analysis including CNV detection in all the relevant genes.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- Breast cancer
- Gene-panel
- Ovarian cancer
- RAD51C
Publication and Content Type
- art (subject category)
- ref (subject category)
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To the university's database
- By the author/editor
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Pelttari, L. M.
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Shimelis, H.
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Toiminen, H.
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Kvist, A.
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Törngren, T.
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Borg, A.
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show more...
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Blomqvist, C.
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Bützow, R.
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Couch, F.
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Aittomäki, K.
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Nevanlinna, H.
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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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Clinical Genetic ...
- By the university
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Lund University