Evidence map›Paper›PMID 22532573›Full record

ArticleHuman molecular genetics2012

The role of genetic breast cancer susceptibility variants as prognostic factors.

Peter A Fasching, Paul D P Pharoah, Angela Cox, Heli Nevanlinna, Stig E Bojesen, Thomas Karn, Annegien Broeks, Flora E van Leeuwen, Laura J van't Veer, Renate Udo and 89 more

Abstract read
In one paragraph

Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
60citing papers in PubMed, 7 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

60 citing papers in PubMed, 7 syntheses or guidelines pooled it.

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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

99 authors.

Peter A FaschingUniversity Breast Center, Department of Gynecology and Obstetrics, University Hospital Erlangen, Comprehensive Cancer Center Erlangen Nuremberg, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany. peter.fasching@uk-erlangen.de
Paul D P Pharoah
Angela Cox
Heli Nevanlinna
Stig E Bojesen
Thomas Karn
Annegien Broeks
Flora E van Leeuwen
Laura J van't Veer
Renate Udo
Alison M Dunning
Dario Greco
Kristiina Aittomäki
Carl Blomqvist
Mitul Shah
Børge G Nordestgaard
Henrik Flyger
John L Hopper
Melissa C Southey
Carmel Apicella
Montserrat Garcia-Closas
Mark Sherman
Jolanta Lissowska
Caroline Seynaeve
Petra E A Huijts
Rob A E M Tollenaar
Argyrios Ziogas
Arif B Ekici
Claudia Rauh
Arto Mannermaa
Vesa Kataja
Veli-Matti Kosma
Jaana M Hartikainen
Irene L Andrulis
Hilmi Ozcelik
Anna-Marie Mulligan
Gord Glendon
Per Hall
Kamila Czene
Jianjun Liu
Jenny Chang-Claude
Shan Wang-Gohrke
Ursula Eilber
Stefan Nickels
Thilo Dörk
Maria Schiekel
Michael Bremer
Tjoung-Won Park-Simon
Graham G Giles
Gianluca Severi
Laura Baglietto
Maartje J Hooning
John W M Martens
Agnes Jager
Mieke Kriege
Annika Lindblom
Sara Margolin
Fergus J Couch
Kristen N Stevens
Janet E Olson
Matthew Kosel
Simon S Cross
Sabapathy P Balasubramanian
Malcolm W R Reed
Alexander Miron
Esther M John
Robert Winqvist
Katri Pylkäs
Arja Jukkola-Vuorinen
Saila Kauppila
Barbara Burwinkel
Frederik Marme
Andreas Schneeweiss
Christof Sohn
Georgia Chenevix-Trench
kConFab Investigators
Diether Lambrechts
Anne-Sophie Dieudonne
Sigrid Hatse
Erik van Limbergen
Javier Benitez
Roger L Milne
M Pilar Zamora
José Ignacio Arias Pérez
Bernardo Bonanni
Bernard Peissel
Bernard Loris
Paolo Peterlongo
Preetha Rajaraman
Sara J Schonfeld
Hoda Anton-Culver
Peter Devilee
Matthias W Beckmann
Dennis J Slamon
Kelly-Anne Phillips
Jonine D Figueroa
Manjeet K Humphreys
Douglas F Easton
Marjanka K Schmidt

Funding

Hormone-Related CancersZIACP010126 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI GIERACH, GRETCHEN · 2009 to 2025
$103.5M
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
ONTARIO REGISTRY FOR STUDIES OF FAMILIAL BREAST CANCERU01CA069467 · NCI · CANCER CARE ONTARIO · PI ANDRULIS, IRENE L. · 1995 to 2010
$10.4M
THE AUSTRALIAN BREAST CANCER FAMILY REGISTRYU01CA069638 · NCI · UNIVERSITY OF MELBOURNE · PI HOPPER, JOHN L · 1995 to 2010
$6.6M
Mayo Cancer Genetic Epidemiology Training ProgramR25CA092049 · NCI · MAYO CLINIC ROCHESTER · PI PETERSEN, GLORIA M., VACHON, CELINE M · 2001 to 2018
$5.3M
Genetic epidemiology of cell division regulation in breast cancerR01CA122340 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2007 to 2011
$3.0M
Breast Cancer Now 2004NOV49Cancer Research UK 10118Cancer Research UK 10124Cancer Research UK 11022Cancer Research UK C1287/A12014Cancer Research UK C490/A10119Cancer Research UK C490/A10124Intramural NIH HHSNCI NIH HHS CA122340NCI NIH HHS CA122340ZNCI NIH HHS P50 CA116201NCI NIH HHS R01 CA122340NCI NIH HHS R25 CA092049NCI NIH HHS RFA-CA-06-503NCI NIH HHS U01 CA069417NCI NIH HHS U01 CA069467NCI NIH HHS U01 CA069638NCI NIH HHS U01 CA69417NCI NIH HHS U01 CA69467NCI NIH HHS U01 CA69638
6 · The paper itself

Abstract

Recent genome-wide association studies identified 11 single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk. We investigated these and 62 other SNPs for their prognostic relevance. Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. Cox proportional hazard models were used to test the association of these SNPs with overall survival (OS) and BC-specific survival (BCS). For the confirmed loci, we performed an accessory analysis of publicly available gene expression data and the prognosis in a different patient group. One of the 11 SNPs, rs3803662 (TOX3) and none of the 62 candidate/GWAS SNPs were associated with OS and/or BCS at P<0.01. The genotypic-specific survival for rs3803662 suggested a recessive mode of action [hazard ratio (HR) of rare homozygous carriers=1.21; 95% CI: 1.09-1.35, P=0.0002 and HR=1.29; 95% CI: 1.12-1.47, P=0.0003 for OS and BCS, respectively]. This association was seen similarly in all analyzed tumor subgroups defined by nodal status, tumor size, grade and estrogen receptor. Breast tumor expression of these genes was not associated with prognosis. With the exception of rs3803662 (TOX3), there was no evidence that any of the SNPs associated with BC susceptibility were associated with the BC survival. Survival may be influenced by a distinct set of germline variants from those influencing susceptibility.

Indexed as

Genetic Predisposition to DiseaseBreast NeoplasmsDatabases, GeneticFemaleGene Expression Regulation, NeoplasticGenetic LociGenetics, PopulationHomozygoteHumansMiddle AgedPolymorphism, Single NucleotidePrognosisProportional Hazards ModelsReceptors, EstrogenRisk FactorsReceptors, Estrogen

Identifiers

PMID22532573
PMCPMC3412377

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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.