Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
18543099
TITLE
No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers.
ABSTRACT
The p27(kip1) protein functions as an inhibitor of cyclin dependent kinase-2, and shows loss of expression in a large percentage of BRCA1 and BRCA2 breast cancer cases. We investigated the association between CDKN1B gene variants and breast cancer risk in 2359 female BRCA1 and BRCA2 mutation carriers from Australia, the UK, and the USA. Samples were genotyped for five single nucleotide polymorphisms, including coding variant rs2066827 (V109G). Cox regression provided no convincing evidence that any of the polymorphisms modified disease risk for BRCA1 or BRCA2 carriers, either alone or as a haplotype. Borderline associations were observed for homozygote carriers of the rs3759216 rare allele, but were opposite in effect for BRCA1 and BRCA2 carriers (adjusted hazard ratio (HR) 0.72 (95% CI = 0.53-0.99; P = 0.04 for BRCA1, HR 1.47 (95% CI = 0.99-2.18; P = 0.06 for BRCA2). The 95% confidence intervals for per allele risk estimates excluded a twofold risk, indicating that common CDKN1B polymorphisms do not markedly modify breast cancer risk among BRCA1 or BRCA2 carriers.
DATE PUBLISHED
2009 May
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2008/05/23
accepted 2008/05/27
aheadofprint 2008/06/10
pubmed 2008/06/11 09:00
medline 2009/07/30 09:00
entrez 2008/06/11 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Spurdle AB Spurdle Amanda B AB Queensland Institute of Medical Research, Brisbane, Australia. amanda.spurdle@qimr.edu.au
Deans AJ Deans Andrew J AJ
Duffy D Duffy David D
Goldgar DE Goldgar David E DE
Chen X Chen Xiaoqing X
Beesley J Beesley Jonathan J
kConFaB
Easton DF Easton Douglas F DF
Antoniou AC Antoniou Antonis C AC
Peock S Peock Susan S
Cook M Cook Margaret M
EMBRACE Study Collaborators
Nathanson KL Nathanson Katherine L KL
Domchek SM Domchek Susan M SM
MacArthur GA MacArthur Grant A GA
Chenevix-Trench G Chenevix-Trench Georgia G
INVESTIGATORS
LASTNAME FORENAME INITIALS AFFILIATION
Peock Susan S
Cook Margaret M
Bignell Alexandra A
Frost Debra D
Haites Neva N
Gregory Helen H
Morrison Patrick P
Cole Trevor T
McKeown Carole C
Donaldson Alan A
Paterson Joan J
Murray Alexandra A
Rogers Mark M
McCann Emma E
Daly Peter P
Barton David D
Porteous Mary M
Steel Michael M
Brewer Carole C
Rankin Julia J
Davidson Rosemarie R
Murday Victoria V
Izatt Louise L
Pichert Gabriella G
Dorkins Huw H
Trembath Richard R
Bishop Tim T
Chu Carol C
Ellis Ian I
Evans D Gareth DG
Lalloo Fiona F
Male Alison A
Mackay James J
Robinson Anne A
Gardiner Carol C
Douglas Fiona F
Burn John J
Side Lucy L
Walker Lisa L
Durell Sarah S
Eeles Rosalind R
Cook Jackie J
Quarrell Oliver O
Hodgson Shirley S
Eccles Diana D
Lucassen Anneke A
JOURNAL
VOLUME: 115
ISSUE: 2
TITLE: Breast cancer research and treatment
ISOABBREVIATION: Breast Cancer Res. Treat.
YEAR: 2009
MONTH: May
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1573-7217
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Breast Cancer Res Treat
COUNTRY: Netherlands
ISSNLINKING: 0167-6806
NLMUNIQUEID: 8111104
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
10118 Cancer Research UK United Kingdom
11022 Cancer Research UK United Kingdom
145684 Medical Research Council United Kingdom
288704 Medical Research Council United Kingdom
454508 Medical Research Council United Kingdom
Cancer Research UK United Kingdom
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Breast Neoplasms genetics
Cyclin-Dependent Kinase Inhibitor p27 genetics
Female genetics
Genes, BRCA1 genetics
Genes, BRCA2 genetics
Genetic Predisposition to Disease genetics
Humans genetics
Intracellular Signaling Peptides and Proteins genetics
Mutation genetics
Polymorphism, Single Nucleotide genetics
Risk Factors genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 CDKN1B protein, human
0 Intracellular Signaling Peptides and Proteins
147604-94-2 Cyclin-Dependent Kinase Inhibitor p27
OTHER ID's