Genetic Epidemiology, Translational Neurogenomics, Psychiatric 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
21844186
TITLE
Common breast cancer susceptibility loci are associated with triple-negative breast cancer.
ABSTRACT
Triple-negative breast cancers are an aggressive subtype of breast cancer with poor survival, but there remains little known about the etiologic factors that promote its initiation and development. Commonly inherited breast cancer risk factors identified through genome-wide association studies display heterogeneity of effect among breast cancer subtypes as defined by the status of estrogen and progesterone receptors. In the Triple Negative Breast Cancer Consortium (TNBCC), 22 common breast cancer susceptibility variants were investigated in 2,980 Caucasian women with triple-negative breast cancer and 4,978 healthy controls. We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs3803662 (TOX3), rs999737 (RAD51L1), rs8170 (19p13.1), and rs8100241 (19p13.1), significantly associated with the risk of triple-negative breast cancer. Together, our results provide convincing evidence of genetic susceptibility for triple-negative breast cancer.
DATE PUBLISHED
2011 Oct 1
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2011/08/15
entrez 2011/08/17 06:00
pubmed 2011/08/17 06:00
medline 2011/12/14 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Stevens KN Stevens Kristen N KN Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Vachon CM Vachon Celine M CM
Lee AM Lee Adam M AM
Slager S Slager Susan S
Lesnick T Lesnick Timothy T
Olswold C Olswold Curtis C
Fasching PA Fasching Peter A PA
Miron P Miron Penelope P
Eccles D Eccles Diana D
Carpenter JE Carpenter Jane E JE
Godwin AK Godwin Andrew K AK
Ambrosone C Ambrosone Christine C
Winqvist R Winqvist Robert R
Brauch H Brauch Hiltrud H
GENICA consortium
Schmidt MK Schmidt Marjanka K MK
Cox A Cox Angela A
Cross SS Cross Simon S SS
Sawyer E Sawyer Elinor E
Hartmann A Hartmann Arndt A
Beckmann MW Beckmann Matthias W MW
Schulz-Wendtland R Schulz-Wendtland Rüdiger R
Ekici AB Ekici Arif B AB
Tapper WJ Tapper William J WJ
Gerty SM Gerty Susan M SM
Durcan L Durcan Lorraine L
Graham N Graham Nikki N
Hein R Hein Rebecca R
Nickels S Nickels Stephan S
Flesch-Janys D Flesch-Janys Dieter D
Heinz J Heinz Judith J
Sinn HP Sinn Hans-Peter HP
Konstantopoulou I Konstantopoulou Irene I
Fostira F Fostira Florentia F
Pectasides D Pectasides Dimitrios D
Dimopoulos AM Dimopoulos Athanasios M AM
Fountzilas G Fountzilas George G
Clarke CL Clarke Christine L CL
Balleine R Balleine Rosemary R
Olson JE Olson Janet E JE
Fredericksen Z Fredericksen Zachary Z
Diasio RB Diasio Robert B RB
Pathak H Pathak Harsh H
Ross E Ross Eric E
Weaver J Weaver JoEllen J
Rüdiger T Rüdiger Thomas T
Försti A Försti Asta A
Dünnebier T Dünnebier Thomas T
Ademuyiwa F Ademuyiwa Foluso F
Kulkarni S Kulkarni Swati S
Pylkäs K Pylkäs Katri K
Jukkola-Vuorinen A Jukkola-Vuorinen Arja A
Ko YD Ko Yon-Dschun YD
Van Limbergen E Van Limbergen Erik E
Janssen H Janssen Hilde H
Peto J Peto Julian J
Fletcher O Fletcher Olivia O
Giles GG Giles Graham G GG
Baglietto L Baglietto Laura L
Verhoef S Verhoef Senno S
Tomlinson I Tomlinson Ian I
Kosma VM Kosma Veli-Matti VM
Beesley J Beesley Jonathan J
Greco D Greco Dario D
Blomqvist C Blomqvist Carl C
Irwanto A Irwanto Astrid A
Liu J Liu Jianjun J
Blows FM Blows Fiona M FM
Dawson SJ Dawson Sarah-Jane SJ
Margolin S Margolin Sara S
Mannermaa A Mannermaa Arto A
Martin NG Martin Nicholas G NG
Montgomery GW Montgomery Grant W GW
Lambrechts D Lambrechts Diether D
dos Santos Silva I dos Santos Silva Isabel I
Severi G Severi Gianluca G
Hamann U Hamann Ute U
Pharoah P Pharoah Paul P
Easton DF Easton Douglas F DF
Chang-Claude J Chang-Claude Jenny J
Yannoukakos D Yannoukakos Drakoulis D
Nevanlinna H Nevanlinna Heli H
Wang X Wang Xianshu X
Couch FJ Couch Fergus J FJ
INVESTIGATORS
JOURNAL
VOLUME: 71
ISSUE: 19
TITLE: Cancer research
ISOABBREVIATION: Cancer Res.
YEAR: 2011
MONTH: Oct
DAY: 1
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1538-7445
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Cancer Res
COUNTRY: United States
ISSNLINKING: 0008-5472
NLMUNIQUEID: 2984705R
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Multicenter Study
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
090532 Wellcome Trust United Kingdom
10118 Cancer Research UK United Kingdom
5U01CA113916 NCI NIH HHS United States
A10119 Cancer Research UK United Kingdom
A10124 Cancer Research UK United Kingdom
C1287/A10118 Cancer Research UK United Kingdom
C1287/A5260 Cancer Research UK United Kingdom
C1287/A7497 Cancer Research UK United Kingdom
C490/A11021 Cancer Research UK United Kingdom
CA116201 NCI NIH HHS United States
CA122340 NCI NIH HHS United States
P-50CA83638 NCI NIH HHS United States
P30 CA016056 NCI NIH HHS United States
P30 CA016056-32 NCI NIH HHS United States
P30 CA016056-32 NCI NIH HHS United States
P50 CA083638 NCI NIH HHS United States
P50 CA083638-10 NCI NIH HHS United States
P50 CA089393 NCI NIH HHS United States
P50 CA089393 NCI NIH HHS United States
P50 CA089393-10 NCI NIH HHS United States
P50 CA116201 NCI NIH HHS United States
P50 CA116201-07 NCI NIH HHS United States
R01 CA122340 NCI NIH HHS United States
R01 CA122340-05 NCI NIH HHS United States
R25 CA092049 NCI NIH HHS United States
U01 CA069631 NCI NIH HHS United States
U01 CA069631-11 NCI NIH HHS United States
U01 CA113916 NCI NIH HHS United States
U01 CA113916-08 NCI NIH HHS United States
U01CA69631 NCI NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adult
Aged
Breast Neoplasms metabolism
Case-Control Studies metabolism
Chromosomes, Human, Pair 19 genetics
European Continental Ancestry Group genetics
Female genetics
Genetic Predisposition to Disease genetics
Humans genetics
Middle Aged genetics
Polymorphism, Single Nucleotide genetics
Receptors, Estrogen metabolism
Receptors, Progesterone metabolism
Risk metabolism
Young Adult metabolism
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Receptors, Estrogen
0 Receptors, Progesterone
OTHER ID's
OTHERID SOURCE
NIHMS318909 NLM
PMC3327299 NLM