Evidence map›Paper›PMID 22351618›Full record

ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2012

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Fergus J Couch, Mia M Gaudet, Antonis C Antoniou, Susan J Ramus, Karoline B Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Xianshu Wang, Tomas Kirchhoff and 187 more

Open access · greenAbstract readMulticenter Study
In one paragraph

Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 2 pooled it
5.2field-weighted citation impact, top 4% of its field
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

33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 56 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Review
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2016
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

197 authors at 1 institution in 5 countries.

Fergus J CouchDepartments of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. couch.fergus@mayo.edu
Mia M Gaudet
Antonis C Antoniou
Susan J Ramus
Karoline B Kuchenbaecker
Penny Soucy
Jonathan Beesley
Xiaoqing Chen
Xianshu Wang
Tomas Kirchhoff
Lesley McGuffog
Daniel Barrowdale
Andrew Lee
Sue Healey
Olga M Sinilnikova
Irene L Andrulis
OCGN
Hilmi Ozcelik
Anna Marie Mulligan
Mads Thomassen
Anne-Marie Gerdes
Uffe Birk Jensen
Anne-Bine Skytte
Torben A Kruse
Maria A Caligo
Anna von Wachenfeldt
Gisela Barbany-Bustinza
Niklas Loman
Maria Soller
Hans Ehrencrona
Per Karlsson
SWE-BRCA
Katherine L Nathanson
Timothy R Rebbeck
Susan M Domchek
Ania Jakubowska
Jan Lubinski
Katarzyna Jaworska
Katarzyna Durda
Elzbieta Zlowocka
Tomasz Huzarski
Tomasz Byrski
Jacek Gronwald
Cezary Cybulski
Bohdan Górski
Ana Osorio
Mercedes Durán
María Isabel Tejada
Javier Benitez
Ute Hamann
Frans B L Hogervorst
HEBON
Theo A van Os
Flora E van Leeuwen
Hanne E J Meijers-Heijboer
Juul Wijnen
Marinus J Blok
Marleen Kets
Maartje J Hooning
Rogier A Oldenburg
Margreet G E M Ausems
Susan Peock
Debra Frost
Steve D Ellis
Radka Platte
Elena Fineberg
D Gareth Evans
Chris Jacobs
Rosalind A Eeles
Julian Adlard
Rosemarie Davidson
Diana M Eccles
Trevor Cole
Jackie Cook
Joan Paterson
Carole Brewer
Fiona Douglas
Shirley V Hodgson
Patrick J Morrison
Lisa Walker
Mary E Porteous
M John Kennedy
Lucy E Side
EMBRACE
Betsy Bove
Andrew K Godwin
Dominique Stoppa-Lyonnet
GEMO Study Collaborators
Marion Fassy-Colcombet
Laurent Castera
François Cornelis
Sylvie Mazoyer
Mélanie Léoné
Nadia Boutry-Kryza
Brigitte Bressac-de Paillerets
Olivier Caron
Pascal Pujol
Isabelle Coupier
Capucine Delnatte
Linda Akloul
Henry T Lynch
Carrie L Snyder
Saundra S Buys
Mary B Daly
Marybeth Terry
Wendy K Chung
Esther M John
Alexander Miron
Melissa C Southey
John L Hopper
David E Goldgar
Christian F Singer
Christine Rappaport
Muy-Kheng M Tea
Anneliese Fink-Retter
Thomas V O Hansen
Finn C Nielsen
Aðalgeir Arason
Joseph Vijai
Sohela Shah
Kara Sarrel
Mark E Robson
Marion Piedmonte
Kelly Phillips
Jack Basil
Wendy S Rubinstein
John Boggess
Katie Wakeley
Amanda Ewart-Toland
Marco Montagna
Simona Agata
Evgeny N Imyanitov
Claudine Isaacs
Ramunas Janavicius
Conxi Lazaro
Ignacio Blanco
Lidia Feliubadalo
Joan Brunet
Simon A Gayther
Paul P D Pharoah
Kunle O Odunsi
Beth Y Karlan
Christine S Walsh
Edith Olah
Soo Hwang Teo
Patricia A Ganz
Mary S Beattie
Elizabeth J van Rensburg
Cecelia M Dorfling
Orland Diez
Ava Kwong
Rita K Schmutzler
Barbara Wappenschmidt
Christoph Engel
Alfons Meindl
Nina Ditsch
Norbert Arnold
Simone Heidemann
Dieter Niederacher
Sabine Preisler-Adams
Dorothea Gadzicki
Raymonda Varon-Mateeva
Helmut Deissler
Andrea Gehrig
Christian Sutter
Karin Kast
Britta Fiebig
Wolfram Heinritz
Trinidad Caldes
Miguel de la Hoya
Taru A Muranen
Heli Nevanlinna
Marc D Tischkowitz
Amanda B Spurdle
Susan L Neuhausen
Yuan Chun Ding
Noralane M Lindor
Zachary Fredericksen
V Shane Pankratz
Paolo Peterlongo
Siranoush Manoukian
Bernard Peissel
Daniela Zaffaroni
Monica Barile
Loris Bernard
Alessandra Viel
Giuseppe Giannini
Liliana Varesco
Paolo Radice
Mark H Greene
Phuong L Mai
Douglas F Easton
Georgia Chenevix-Trench
kConFab investigators
Kenneth Offit
Jacques Simard
Consortium of Investigators of Modifiers of BRCA1/2
University of Southern California · US

Funding

Tissue Culture Shared ResourceP30CA051008 · NCI · GEORGETOWN UNIVERSITY · PI Louis M Weiner · 1990 to 2026
$71.5M
The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9M
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
Prophytactic surgery in carriers of BRCA 1/2 mutationsR01CA083855 · NCI · UNIVERSITY OF PENNSYLVANIA · PI REBBECK, TIMOTHY R · 2000 to 2010
$7.3M
THE AUSTRALIAN BREAST CANCER FAMILY REGISTRYU01CA069638 · NCI · UNIVERSITY OF MELBOURNE · PI HOPPER, JOHN L · 1995 to 2010
$6.6M
UTILIZATION OF PERSONALIZED MEDICINE USING GENOMICSP01CA130818 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI WALSH, JUDITH MARY EILEEN · 2008 to 2010
$5.1M
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
Cancer Research UK 10118Cancer Research UK 10124Cancer Research UK 11022Cancer Research UK 11174Cancer Research UK 15007Cancer Research UK C12292/A11174Cancer Research UK C1287/A10118Cancer Research UK C1287/A11990Cancer Research UK C5047/A8385CIHRNCI NIH HHS 5U01CA113916NCI NIH HHS CA-06503NCI NIH HHS CA116201NCI NIH HHS CA128978NCI NIH HHS N02 CP011019NCI NIH HHS N02 CP065504NCI NIH HHS N02-CP-11019-50NCI NIH HHS N02PC45022-46NCI NIH HHS P01 CA130818NCI NIH HHS P01 CA130818-02A1NCI NIH HHS P30 CA051008NCI NIH HHS P30-CA051008NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA083855NCI NIH HHS R01-CA083855NCI NIH HHS R01 CA102776NCI NIH HHS R01 CA128978NCI NIH HHS U01 CA069398NCI NIH HHS U01 CA069417NCI NIH HHS U01 CA069446NCI NIH HHS U01 CA069467NCI NIH HHS U01 CA069631NCI NIH HHS U01 CA069638NCI NIH HHS U01 CA113916NCI NIH HHS U01 CA69398NCI NIH HHS U01 CA69417NCI NIH HHS U01 CA69446NCI NIH HHS U01 CA69467NCI NIH HHS U01 CA69631NCI NIH HHS U01CA69631NCI NIH HHS U01 CA69638
6 · The paper itself

Abstract

backgroundGenome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

methodsGenotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined.

resultsWe confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 × 10(-4)] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers. We also found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05-1.29; P = 3.8 × 10(-4)) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10-1.52; P = 1.8 × 10(-3)).

conclusions19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. IMPACT: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers.

Indexed as

AdultAgedBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsChromosomes, Human, Pair 19DNA-Binding ProteinsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansImmunoenzyme TechniquesMiddle AgedMutationOvarian NeoplasmsBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanDNA-Binding ProteinsReceptors, EstrogenTranscription FactorsZNF365 protein, human

Identifiers

PMID22351618
PMCPMC3319317
OpenAlexW2118496272

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.