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The BRCA1 c. 5096G ...
The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant : breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
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- Moghadasi, Setareh (author)
- Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands.,Leiden University Medical Centre
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- Meeks, Huong D. (author)
- Univ Utah, Huntsman Canc Inst, Salt Lake City, UT USA.,University of Utah
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- Vreeswijk, Maaike P. G. (author)
- Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands.,Leiden University Medical Centre
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- Janssen, Linda A. M. (author)
- Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands.,Leiden University Medical Centre,Amsterdam UMC - Vrije Universiteit Amsterdam,Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands.
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- Borg, Åke (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,Lund Univ, Dept Clin Sci, Div Oncol, Lund, Sweden.
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- Ehrencrona, Hans (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Lund Univ, Dept Clin Genet, Lund, Sweden.;Lund Univ, Off Med Serv, Lab Med, Dept Clin Genet, Lund, Sweden.
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- Paulsson-Karlsson, Ylva (author)
- Uppsala University,Uppsala universitet,Institutionen för immunologi, genetik och patologi
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- Wappenschmidt, Barbara (author)
- Univ Hosp Cologne, Ctr Familial Breast & Ovarian Canc, Cologne, Germany.;Univ Hosp Cologne, Dept Gynaecol & Obstet, Cologne, Germany.;Univ Hosp Cologne, Ctr Integrated Oncol, Cologne, Germany.;Univ Hosp Cologne, Ctr Mol Med Cologne CMMC, Cologne, Germany.,University Hospital of Cologne
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- Engel, Christoph (author)
- Univ Leipzig, Inst Med Informat, Leipzig, Germany.;Univ Leipzig, Dept Stat & Epidemiol, Leipzig, Germany.,Leipzig University
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- Gehrig, Andrea (author)
- Univ Wurzburg, Ctr Familial Breast & Ovarian Canc, Wurzburg, Germany.;Univ Wurzburg, Dept Med Genet, Wurzburg, Germany.;Univ Wurzburg, Inst Human Genet, Wurzburg, Germany.,Julius Maximilian University of Würzburg
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- Arnold, Norbert (author)
- Christian Albrechts Univ Kiel, Univ Hosp Schleswig Holstein, Dept Gynaecol & Obstet, Campus Kiel, Kiel, Germany.,University Medical Center Schleswig-Holstein
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- Hansen, Thomas Van Overeem (author)
- Univ Copenhagen, Ctr Genom Med, Copenhagen, Denmark.;Univ Copenhagen, Dept Rigshosp, Copenhagen, Denmark.,University of Copenhagen
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- Thomassen, Mads (author)
- Odense Univ Hosp, Dept Clin Genet, Odense, Denmark.,Odense University Hospital
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- Jensen, Uffe Birk (author)
- Aarhus Univ Hosp, Dept Clin Genet, Aarhus, Denmark.,Aarhus University Hospital
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- Kruse, Torben A. (author)
- Odense University Hospital
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- Ejlertsen, Bent (author)
- Univ Copenhagen, Dept Rigshosp, Copenhagen, Denmark.;Univ Copenhagen, Dept Oncol, Copenhagen, Denmark.,University of Copenhagen
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- Gerdes, Anne-Marie (author)
- Univ Copenhagen, Dept Rigshosp, Copenhagen, Denmark.;Univ Copenhagen, Dept Clin Genet, Copenhagen, Denmark.,University of Copenhagen
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- Pedersen, Inge Sokilde (author)
- Aalborg Univ Hosp, Sect Mol Diagnost, Aalborg, Denmark.;Aalborg Univ Hosp, Dept Clin Biochem, Aalborg, Denmark.,Aalborg University
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- Caputo, Sandrine M. (author)
- Inst Curie, Serv Genet, Paris, France.,Curie Institute, Paris
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- Couch, Fergus (author)
- Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA.,Mayo Clinic Minnesota
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- Hallberg, Emily J. (author)
- Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA.,Mayo Clinic Minnesota
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- van den Ouweland, Ans M. W. (author)
- Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands.,Erasmus University Medical Center
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- Collee, Margriet J. (author)
- Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands.,Erasmus University Medical Center
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- Teugels, Erik (author)
- Univ Hosp Brussels, Familial Canc Clin & Med Oncol, Brussels, Belgium.,Universitair Ziekenhuis Brussel
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- Adank, Muriel A. (author)
- Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands.
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- van der Luijt, Rob B. (author)
- Univ Med Ctr Utrecht, Div Biomed Genet, Utrecht, Netherlands.;Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands.,University Medical Center Utrecht
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- Mensenkamp, Arjen R. (author)
- Radboudumc Nijmegen, Dept Human Genet, Nijmegen, Netherlands.
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- Oosterwijk, Jan C. (author)
- Univ Groningen, Univ Med Ctr, Dept Genet, Groningen, Netherlands.,University Medical Center Groningen
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- Blok, Marinus J. (author)
- Maastricht University
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- Janin, Nicolas (author)
- Clin Univ Saint Luc, Dept Serv Genet, Brussels, Belgium.,Saint-Luc University Hospital
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- Claes, Kathleen B. M. (author)
- Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium.,Ghent University Hospital
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- Tucker, Kathy (author)
- Prince Wales Hosp, Hereditary Canc Serv, Randwick, NSW, Australia.;St George Hosp, Randwick, NSW, Australia.,Prince of Wales Hospital
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- Viassolo, Valeria (author)
- Geneva Univ Hosp, Dept Oncogenet, Geneva, Switzerland.;Geneva Univ Hosp, Canc Prevent Unit, Geneva, Switzerland.;Geneva Univ Hosp, Div Oncol, Geneva, Switzerland.,Geneva University Hospital
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- Toland, Amanda Ewart (author)
- Ohio State Univ, Dept Canc Biol & Genet, Columbus, OH 43210 USA.,Ohio State University
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- Eccles, Diana E. (author)
- Univ Southampton, Fac Med, Southampton, Hants, England.,University of Southampton
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- Devilee, Peter (author)
- Leiden University Medical Centre
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- Van Asperen, Christie J. (author)
- Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands.,Leiden University Medical Centre
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- Spurdle, Amanda B. (author)
- QIMR Berghofer Med Res Inst, Genet & Computat Biol Div, Herston, Qld, Australia.,QIMR Berghofer Medical Research Institute
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- Goldgar, David E. (author)
- Univ Utah, Sch Med, Huntsman Canc Inst, Salt Lake City, UT USA.;Univ Utah, Sch Med, Dept Dermatol, Salt Lake City, UT USA.,University of Utah
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- Garcia, Encarna Gomez (author)
- Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6202 AZ Maastricht, Netherlands.,Maastricht University
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Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Leiden University Medical Centre (creator_code:org_t)
- 2017-05-10
- 2018
- English.
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In: Journal of Medical Genetics. - : BMJ PUBLISHING GROUP. - 0022-2593 .- 1468-6244. ; 55:1, s. 15-20
- Related links:
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http://dx.doi.org/10...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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Abstract
Subject headings
Close
- Background: We previously showed that the BRCA1 variant c. 5096G> A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and ovarian cancer (OC). This study aimed to assess these cancer risks for R1699Q carriers in a larger cohort, including follow-up of previously studied families, to further define cancer risks and to propose adjusted clinical management of female BRCA1* R1699Q carriers.Methods: Data were collected from 129 BRCA1* R1699Q families ascertained internationally by ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) consortium members. A modified segregation analysis was used to calculate BC and OC risks. Relative risks were calculated under both monogenic model and major gene plus polygenic model assumptions.Results: In this cohort the cumulative risk of BC and OC by age 70 years was 20% and 6%, respectively. The relative risk for developing cancer was higher when using a model that included the effects of both the R1699Q variant and a residual polygenic component compared with monogenic model (for BC 3.67 vs 2.83, and for OC 6.41 vs 5.83).Conclusion: O ur results confirm that BRCA1* R1699Q confers an intermediate risk for BC and OC. Breast surveillance for female carriers based on mammogram annually from age 40 is advised. Bilateral salpingooophorectomy should be considered based on family history.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Moghadasi, Setar ...
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Meeks, Huong D.
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Vreeswijk, Maaik ...
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Janssen, Linda A ...
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Borg, Åke
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Ehrencrona, Hans
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show more...
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Paulsson-Karlsso ...
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Wappenschmidt, B ...
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Engel, Christoph
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Gehrig, Andrea
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Arnold, Norbert
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Hansen, Thomas V ...
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Thomassen, Mads
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Jensen, Uffe Bir ...
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Kruse, Torben A.
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Ejlertsen, Bent
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Gerdes, Anne-Mar ...
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Pedersen, Inge S ...
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Caputo, Sandrine ...
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Couch, Fergus
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Hallberg, Emily ...
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van den Ouweland ...
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Collee, Margriet ...
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Teugels, Erik
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Adank, Muriel A.
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van der Luijt, R ...
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Mensenkamp, Arje ...
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Oosterwijk, Jan ...
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Blok, Marinus J.
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Janin, Nicolas
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Claes, Kathleen ...
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Tucker, Kathy
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Viassolo, Valeri ...
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Toland, Amanda E ...
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Eccles, Diana E.
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Devilee, Peter
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Van Asperen, Chr ...
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Spurdle, Amanda ...
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Goldgar, David E ...
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Garcia, Encarna ...
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- 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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Journal of Medic ...
- By the university
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Uppsala University
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Lund University