Evidence map›Paper›PMID 22669161›Full record

ArticleBritish journal of cancer2012

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.

A Jakubowska, D Rozkrut, A Antoniou, U Hamann, R J Scott, L McGuffog, S Healy, O M Sinilnikova, G Rennert, F Lejbkowicz and 113 more

Open access · hybridAbstract readMulticenter Study
In one paragraph

Article in British journal of cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 5 pooled it
3.5field-weighted citation impact, top 8% 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

18 citing papers in PubMed, 5 syntheses or guidelines pooled it, 37 citations in OpenAlex.

  1. Pooled it
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  13. OncoTargets and therapy · 2017
    Article
  14. Review
  15. Thrombophilic polymorphisms are not associated with disease-free survival in breast cancer patients.International journal of clinical and experimental medicine · 2015
    Article
  16. Article
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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

123 authors at 20 institutions in 15 countries.

A JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland. aniaj@sci.pam.szczecin.pl
D Rozkrut
A Antoniou
U Hamann
R J Scott
L McGuffog
S Healy
O M Sinilnikova
G Rennert
F Lejbkowicz
A Flugelman
I L Andrulis
G Glendon
H Ozcelik
OCGN
M Thomassen
M Paligo
P Aretini
SWE-BRCA
J Kantala
B Aroer
A von Wachenfeldt
A Liljegren
N Loman
K Herbst
U Kristoffersson
R Rosenquist
P Karlsson
M Stenmark-Askmalm
B Melin
K L Nathanson
S M Domchek
T Byrski
T Huzarski
J Gronwald
J Menkiszak
C Cybulski
P Serrano
A Osorio
T R Cajal
M Tsitlaidou
J Benítez
M Gilbert
HEBON
M Rookus
C M Aalfs
I Kluijt
J L Boessenkool-Pape
H E J Meijers-Heijboer
J C Oosterwijk
C J van Asperen
M J Blok
M R Nelen
A M W van den Ouweland
C Seynaeve
R B van der Luijt
P Devilee
EMBRACE
D F Easton
S Peock
D Frost
R Platte
S D Ellis
E Fineberg
D G Evans
F Lalloo
R Eeles
C Jacobs
J Adlard
R Davidson
D Eccles
T Cole
J Cook
A Godwin
B Bove
GEMO Study Collaborators
D Stoppa-Lyonnet
V Caux-Moncoutier
M Belotti
C Tirapo
S Mazoyer
L Barjhoux
N Boutry-Kryza
P Pujol
I Coupier
J-P Peyrat
P Vennin
D Muller
J-P Fricker
L Venat-Bouvet
O Th Johannsson
C Isaacs
R Schmutzler
B Wappenschmidt
A Meindl
N Arnold
R Varon-Mateeva
D Niederacher
C Sutter
H Deissler
S Preisler-Adams
J Simard
P Soucy
F Durocher
G Chenevix-Trench
J Beesley
X Chen
KConFab
T Rebbeck
F Couch
X Wang
N Lindor
Z Fredericksen
V S Pankratz
P Peterlongo
B Bonanni
S Fortuzzi
B Peissel
C Szabo
P L Mai
J T Loud
J Lubinski
CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer
University of Cambridge · GBKarolinska University Hospital · SEQIMR Berghofer Medical Research Institute · AULund University · SEUniversité Claude Bernard Lyon 1 · FRCentre hospitalier universitaire de Québec · CANational Institutes of Health · USGerman Cancer Research Center · DEIFOM · ITPomeranian Medical University · PLSpanish National Cancer Research Centre · ESCarmel Medical Center · ILCentre Oscar Lambret · FRChristian-Albrechts-Universität zu Kiel · DEDélégation Paris 5 · FRErasmus MC · NLGeorgetown University · USGuy's and St Thomas' NHS Foundation Trust · GBHospital de Sant Pau · ESHunter Medical Research Institute · AU

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
Tissue Culture Shared ResourceP30CA051008 · NCI · GEORGETOWN UNIVERSITY · PI STEPHEN W BYERS · 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
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
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
Modifiers of Cancer Risk in BRCA 1/2 Mutation CarriersR01CA102776 · NCI · UNIVERSITY OF PENNSYLVANIA · PI REBBECK, TIMOTHY R · 2004 to 2008
$3.0M
Cancer Research UK 10118Cancer Research UK 11022Cancer Research UK 15007Cancer Research UK C1287/A10118Cancer Research UK C1287/A11990Cancer Research UK C5047/A8385CIHRNCI NIH HHS 5U01CA113916NCI NIH HHS CA116201NCI 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-CA102776NCI NIH HHS R01 CA128978NCI NIH HHS RFA-CA-06-503NCI NIH HHS U01 CA069631NCI NIH HHS U01 CA113916NCI NIH HHS U01CA69631
6 · The paper itself

Abstract

backgroundThe variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either directly or indirectly in maintaining genomic integrity.

methodsTo evaluate the potential role of genetic variants within PHB and MTHFR in breast and ovarian cancer risk, 4102 BRCA1 and 2093 BRCA2 mutation carriers, and 6211 BRCA1 and 2902 BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) were genotyped for the PHB 1630 C>T (rs6917) polymorphism and the MTHFR 677 C>T (rs1801133) polymorphism, respectively.

resultsThere was no evidence of association between the PHB 1630 C>T and MTHFR 677 C>T polymorphisms with either disease for BRCA1 or BRCA2 mutation carriers when breast and ovarian cancer associations were evaluated separately. Analysis that evaluated associations for breast and ovarian cancer simultaneously showed some evidence that BRCA1 mutation carriers who had the rare homozygote genotype (TT) of the PHB 1630 C>T polymorphism were at increased risk of both breast and ovarian cancer (HR 1.50, 95%CI 1.10-2.04 and HR 2.16, 95%CI 1.24-3.76, respectively). However, there was no evidence of association under a multiplicative model for the effect of each minor allele.

conclusionThe PHB 1630TT genotype may modify breast and ovarian cancer risks in BRCA1 mutation carriers. This association need to be evaluated in larger series of BRCA1 mutation carriers.

Indexed as

Genes, BRCA1Genes, BRCA2Polymorphism, GeneticBreast NeoplasmsFemaleGenetic Predisposition to DiseaseHeterozygoteHumansMethylenetetrahydrofolate Reductase (NADPH2)MutationOvarian NeoplasmsProhibitinsRepressor ProteinsRiskMethylenetetrahydrofolate Reductase (NADPH2)MTHFR protein, humanPHB protein, humanProhibitinsRepressor Proteins

Identifiers

PMID22669161
PMCPMC3388557
OpenAlexW2123889466

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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.