SwePub
Sök i LIBRIS databas

  Extended search

WFRF:(Pedersen Inge Sokilde)
 

Search: WFRF:(Pedersen Inge Sokilde) > (2018) > The BRCA1 c. 5096G ...

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist
  • Moghadasi, SetarehLeiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands.,Leiden University Medical Centre (author)

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

  • Article/chapterEnglish2018

Publisher, publication year, extent ...

  • 2017-05-10
  • BMJ PUBLISHING GROUP,2018
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-338982
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-338982URI
  • https://doi.org/10.1136/jmedgenet-2017-104560DOI
  • https://lup.lub.lu.se/record/49c9bd1c-c6fa-482d-b759-48b1fbe9c9d2URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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 and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Meeks, Huong D.Univ Utah, Huntsman Canc Inst, Salt Lake City, UT USA.,University of Utah (author)
  • Vreeswijk, Maaike P. G.Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands.,Leiden University Medical Centre (author)
  • Janssen, Linda A. M.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. (author)
  • Borg, ÅkeLund 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.(Swepub:lu)onk-abo (author)
  • Ehrencrona, HansLund 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.(Swepub:lu)med-hen (author)
  • Paulsson-Karlsson, YlvaUppsala University,Uppsala universitet,Institutionen för immunologi, genetik och patologi (author)
  • Wappenschmidt, BarbaraUniv 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 (author)
  • Engel, ChristophUniv Leipzig, Inst Med Informat, Leipzig, Germany.;Univ Leipzig, Dept Stat & Epidemiol, Leipzig, Germany.,Leipzig University (author)
  • Gehrig, AndreaUniv 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 (author)
  • Arnold, NorbertChristian Albrechts Univ Kiel, Univ Hosp Schleswig Holstein, Dept Gynaecol & Obstet, Campus Kiel, Kiel, Germany.,University Medical Center Schleswig-Holstein (author)
  • Hansen, Thomas Van OvereemUniv Copenhagen, Ctr Genom Med, Copenhagen, Denmark.;Univ Copenhagen, Dept Rigshosp, Copenhagen, Denmark.,University of Copenhagen (author)
  • Thomassen, MadsOdense Univ Hosp, Dept Clin Genet, Odense, Denmark.,Odense University Hospital (author)
  • Jensen, Uffe BirkAarhus Univ Hosp, Dept Clin Genet, Aarhus, Denmark.,Aarhus University Hospital (author)
  • Kruse, Torben A.Odense University Hospital (author)
  • Ejlertsen, BentUniv Copenhagen, Dept Rigshosp, Copenhagen, Denmark.;Univ Copenhagen, Dept Oncol, Copenhagen, Denmark.,University of Copenhagen (author)
  • Gerdes, Anne-MarieUniv Copenhagen, Dept Rigshosp, Copenhagen, Denmark.;Univ Copenhagen, Dept Clin Genet, Copenhagen, Denmark.,University of Copenhagen (author)
  • Pedersen, Inge SokildeAalborg Univ Hosp, Sect Mol Diagnost, Aalborg, Denmark.;Aalborg Univ Hosp, Dept Clin Biochem, Aalborg, Denmark.,Aalborg University (author)
  • Caputo, Sandrine M.Inst Curie, Serv Genet, Paris, France.,Curie Institute, Paris (author)
  • Couch, FergusMayo Clin, Dept Lab Med & Pathol, Rochester, MN USA.,Mayo Clinic Minnesota (author)
  • Hallberg, Emily J.Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA.,Mayo Clinic Minnesota (author)
  • van den Ouweland, Ans M. W.Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands.,Erasmus University Medical Center (author)
  • Collee, Margriet J.Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands.,Erasmus University Medical Center (author)
  • Teugels, ErikUniv Hosp Brussels, Familial Canc Clin & Med Oncol, Brussels, Belgium.,Universitair Ziekenhuis Brussel (author)
  • Adank, Muriel A.Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands. (author)
  • van der Luijt, Rob B.Univ Med Ctr Utrecht, Div Biomed Genet, Utrecht, Netherlands.;Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands.,University Medical Center Utrecht (author)
  • Mensenkamp, Arjen R.Radboudumc Nijmegen, Dept Human Genet, Nijmegen, Netherlands. (author)
  • Oosterwijk, Jan C.Univ Groningen, Univ Med Ctr, Dept Genet, Groningen, Netherlands.,University Medical Center Groningen (author)
  • Blok, Marinus J.Maastricht University (author)
  • Janin, NicolasClin Univ Saint Luc, Dept Serv Genet, Brussels, Belgium.,Saint-Luc University Hospital (author)
  • Claes, Kathleen B. M.Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium.,Ghent University Hospital (author)
  • Tucker, KathyPrince Wales Hosp, Hereditary Canc Serv, Randwick, NSW, Australia.;St George Hosp, Randwick, NSW, Australia.,Prince of Wales Hospital (author)
  • Viassolo, ValeriaGeneva Univ Hosp, Dept Oncogenet, Geneva, Switzerland.;Geneva Univ Hosp, Canc Prevent Unit, Geneva, Switzerland.;Geneva Univ Hosp, Div Oncol, Geneva, Switzerland.,Geneva University Hospital (author)
  • Toland, Amanda EwartOhio State Univ, Dept Canc Biol & Genet, Columbus, OH 43210 USA.,Ohio State University (author)
  • Eccles, Diana E.Univ Southampton, Fac Med, Southampton, Hants, England.,University of Southampton (author)
  • Devilee, PeterLeiden University Medical Centre (author)
  • Van Asperen, Christie J.Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands.,Leiden University Medical Centre (author)
  • Spurdle, Amanda B.QIMR Berghofer Med Res Inst, Genet & Computat Biol Div, Herston, Qld, Australia.,QIMR Berghofer Medical Research Institute (author)
  • Goldgar, David E.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 (author)
  • Garcia, Encarna GomezMaastricht Univ, Med Ctr, Dept Clin Genet, NL-6202 AZ Maastricht, Netherlands.,Maastricht University (author)
  • Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands.Leiden University Medical Centre (creator_code:org_t)

Related titles

  • In:Journal of Medical Genetics: BMJ PUBLISHING GROUP55:1, s. 15-200022-25931468-6244

Internet link

Find in a library

To the university's database

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view