Evidence map›Paper›PMID 21169536›Full record

ArticleJournal of the National Cancer Institute2011

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.

Susan J Ramus, Christiana Kartsonaki, Simon A Gayther, Paul D P Pharoah, Olga M Sinilnikova, Jonathan Beesley, Xiaoqing Chen, Lesley McGuffog, Sue Healey, Fergus J Couch and 150 more

Abstract read
In one paragraph

Article in Journal of the National Cancer Institute, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 3 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

30 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
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  4. Review
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  7. Article
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  9. Article
  10. The yeastJournal of cell science · 2020
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  11. Genetic Variants in the 3'UTR ofDiagnostics (Basel, Switzerland) · 2020
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  12. Article
  13. Review
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  15. Article
  16. Article
  17. Hereditary breast cancer: ever more pieces to the polygenic puzzle.Hereditary cancer in clinical practice · 2013
    Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

160 authors.

Susan J RamusDepartment of Gynaecological Oncology, UCL EGA Institute for Women's Health, University College London, London, UK. sramus@usc.edu
Christiana Kartsonaki
Simon A Gayther
Paul D P Pharoah
Olga M Sinilnikova
Jonathan Beesley
Xiaoqing Chen
Lesley McGuffog
Sue Healey
Fergus J Couch
Xianshu Wang
Zachary Fredericksen
Paolo Peterlongo
Siranoush Manoukian
Bernard Peissel
Daniela Zaffaroni
Gaia Roversi
Monica Barile
Alessandra Viel
Anna Allavena
Laura Ottini
Laura Papi
Viviana Gismondi
Fabio Capra
Paolo Radice
Mark H Greene
Phuong L Mai
Irene L Andrulis
Gord Glendon
Hilmi Ozcelik
OCGN
Mads Thomassen
Anne-Marie Gerdes
Torben A Kruse
Dorthe Cruger
Uffe Birk Jensen
Maria Adelaide Caligo
Håkan Olsson
Ulf Kristoffersson
Annika Lindblom
Brita Arver
Per Karlsson
Marie Stenmark Askmalm
Ake Borg
Susan L Neuhausen
Yuan Chun Ding
Katherine L Nathanson
Susan M Domchek
Anna Jakubowska
Jan Lubiński
Tomasz Huzarski
Tomasz Byrski
Jacek Gronwald
Bohdan Górski
Cezary Cybulski
Tadeusz Dębniak
Ana Osorio
Mercedes Durán
Maria-Isabel Tejada
Javier Benítez
Ute Hamann
Matti A Rookus
Senno Verhoef
Madeleine A Tilanus-Linthorst
Maaike P Vreeswijk
Danielle Bodmer
Margreet G E M Ausems
Theo A van Os
Christi J Asperen
Marinus J Blok
Hanne E J Meijers-Heijboer
HEBON
EMBRACE
Susan Peock
Margaret Cook
Clare Oliver
Debra Frost
Alison M Dunning
D Gareth Evans
Ros Eeles
Gabriella Pichert
Trevor Cole
Shirley Hodgson
Carole Brewer
Patrick J Morrison
Mary Porteous
M John Kennedy
Mark T Rogers
Lucy E Side
Alan Donaldson
Helen Gregory
Andrew Godwin
Dominique Stoppa-Lyonnet
Virginie Moncoutier
Laurent Castera
Sylvie Mazoyer
Laure Barjhoux
Valérie Bonadona
Dominique Leroux
Laurence Faivre
Rosette Lidereau
Catherine Nogues
Yves-Jean Bignon
Fabienne Prieur
Marie-Agnès Collonge-Rame
Laurence Venat-Bouvet
Sandra Fert-Ferrer
GEMO Study Collaborators
Alex Miron
Saundra S Buys
John L Hopper
Mary B Daly
Esther M John
Mary Beth Terry
David Goldgar
BCFR
Thomas v O Hansen
Lars Jønson
Bent Ejlertsen
Bjarni A Agnarsson
Kenneth Offit
Tomas Kirchhoff
Joseph Vijai
Ana V C Dutra-Clarke
Jennifer A Przybylo
Marco Montagna
Cinzia Casella
Evgeny N Imyanitov
Ramunas Janavicius
Ignacio Blanco
Conxi Lázaro
Kirsten B Moysich
Beth Y Karlan
Jenny Gross
Mary S Beattie
Rita Schmutzler
Barbara Wappenschmidt
Alfons Meindl
Ina Ruehl
Britta Fiebig
Christian Sutter
Norbert Arnold
Helmut Deissler
Raymonda Varon-Mateeva
Karin Kast
Dieter Niederacher
Dorothea Gadzicki
Trinidad Caldes
Miguel de la Hoya
Heli Nevanlinna
Kristiina Aittomäki
Jacques Simard
Penny Soucy
kConFab Investigators
Amanda B Spurdle
Helene Holland
Georgia Chenevix-Trench
Douglas F Easton
Antonis C Antoniou
Consortium of Investigators of Modifiers of BRCA1/2

Funding

Clinical Genetic Studies of Familial and Hereditary Cancer SyndromesZIACP010144 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI SAVAGE, SHARON A. · 2009 to 2025
$111.8M
Therapeutic Micro RNA Strategies for Ovarian CancerP50CA083638 · NCI · RESEARCH INST OF FOX CHASE CAN CTR · PI DALY, MARY BERYL, REBBECK, TIMOTHY R · 1999 to 2013
$33.6M
Northern California Cooperative Family Registry for Breast CancerU01CA069417 · NCI · NORTHERN CALIFORNIA CANCER CENTER · PI JOHN, ESTHER M. · 1995 to 2010
$22.4M
METROPOLITAN NEW YORK REGISTRY OF BREAST CANCER FAMILIESU01CA069398 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI TERRY, MARY BETH · 1995 to 2010
$10.5M
ONTARIO REGISTRY FOR STUDIES OF FAMILIAL BREAST CANCERU01CA069467 · NCI · CANCER CARE ONTARIO · PI ANDRULIS, IRENE L. · 1995 to 2010
$10.4M
Fox Chase Clinical Epidemiology and Validation CenterU01CA113916 · NCI · RESEARCH INST OF FOX CHASE CAN CTR · PI ENGSTROM, PAUL FREDERICK · 2005 to 2015
$8.6M
Philadelphia Breast Cancer Family RegistryU01CA069631 · NCI · FOX CHASE CANCER CENTER · PI DALY, MARY BERYL · 1995 to 2010
$7.4M
THE AUSTRALIAN BREAST CANCER FAMILY REGISTRYU01CA069638 · NCI · UNIVERSITY OF MELBOURNE · PI HOPPER, JOHN L · 1995 to 2010
$6.6M
A genome-wide association study for breast cancer in BRCA1 mutation carriersR01CA128978 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2008 to 2012
$4.8M
Utah Breast Cancer Family RegistryU01CA069446 · NCI · UNIVERSITY OF UTAH · PI BUYS, SAUNDRA S · 1995 to 2010
$4.6M
GENETIC EPIDEMIOLOGY OF BREAST CANCER--BRCA1 AND BRCA2R01CA074415 · NCI · UNIVERSITY OF UTAH · PI NEUHAUSEN, SUSAN L. · 1998 to 2007
$3.9M
Exploiting Biological Networks to Improve Clinical Treatment of Ovarian CancerR01CA140323 · NCI · UNIVERSITY OF KANSAS MEDICAL CENTER · PI GODWIN, ANDREW K. · 2010 to 2014
$2.1M
Cancer Research UK 10118Cancer Research UK 10119Cancer Research UK 10124Cancer Research UK 11021Cancer Research UK 11022Cancer Research UK 11174Cancer Research UK A10119Cancer Research UK A10124Cancer Research UK C1287/A10118Cancer Research UK C1287/A8874Cancer Research UK C5047/A8385Cancer Research UK C8197/A10123Cancer Research UK C8197/A10865CIHR CRN_87521Department of HealthIntramural NIH HHS ZIA CP010144Medical Research Council G0801875NCI NIH HHS 5U01 CA113916NCI NIH HHS N02-CP-11019-50NCI NIH HHS N02-CP-65504NCI NIH HHS N02PC45022-46NCI NIH HHS P50 CA83638NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA140323NCI NIH HHS R01 CA74415NCI NIH HHS RFA-CA-06-503NCI NIH HHS U01 CA69398NCI NIH HHS U01 CA69417NCI NIH HHS U01 CA69446NCI NIH HHS U01 CA69467NCI NIH HHS U01 CA69631NCI NIH HHS U01 CA69638PHS HHS HHSN21620074400C
6 · The paper itself

Abstract

backgroundGermline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A genome-wide association study recently identified an association between the rare allele of the single-nucleotide polymorphism (SNP) rs3814113 (ie, the C allele) at 9p22.2 and decreased risk of ovarian cancer for women in the general population. We evaluated the association of this SNP with ovarian cancer risk among BRCA1 or BRCA2 mutation carriers by use of data from the Consortium of Investigators of Modifiers of BRCA1/2.

methodsWe genotyped rs3814113 in 10,029 BRCA1 mutation carriers and 5837 BRCA2 mutation carriers. Associations with ovarian and breast cancer were assessed with a retrospective likelihood approach. All statistical tests were two-sided.

resultsThe minor allele of rs3814113 was associated with a reduced risk of ovarian cancer among BRCA1 mutation carriers (per-allele hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.72 to 0.85; P = 4.8 × 10(-9)) and BRCA2 mutation carriers (hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.67 to 0.90; P = 5.5 × 10(-4)). This SNP was not associated with breast cancer risk among either BRCA1 or BRCA2 mutation carriers. BRCA1 mutation carriers with the TT genotype at SNP rs3814113 were predicted to have an ovarian cancer risk to age 80 years of 48%, and those with the CC genotype were predicted to have a risk of 33%.

conclusionCommon genetic variation at the 9p22.2 locus was associated with decreased risk of ovarian cancer for carriers of a BRCA1 or BRCA2 mutation.

Indexed as

Genes, BRCA1Genes, BRCA2Germ-Line MutationHeterozygotePolymorphism, Single NucleotideAdultAgedAged, 80 and overAllelesChromosomes, Human, Pair 9FemaleGenotypeHumansLikelihood FunctionsMiddle AgedOdds Ratio

Identifiers

PMID21169536
PMCPMC3107565

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.