The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

Amanda B. Spurdle; Antonis C. Antoniou; Livia Kelemen; Helene Holland; Susan Peock; Margaret R. Cook; Paula L. Smith; Mark H. Greene; Jacques Simard; Marie Plourde; Melissa C. Southey; Andrew K. Godwin; Jeanne Beck; Alexander Miron; Mary B. Daly; Regina M. Santella; John L. Hopper; Esther M. John; Irene L. Andrulis; Francine Durocher; Jeffery P. Struewing; Douglas F. Easton; Georgia Chenevix-Trench

doi:10.1158/1055-9965.EPI-05-0709

The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

Amanda B. Spurdle, Antonis C. Antoniou, Livia Kelemen, Helene Holland, Susan Peock, Margaret R. Cook, Paula L. Smith, Mark H. Greene, Jacques Simard, Marie Plourde, Melissa C. Southey, Andrew K. Godwin, Jeanne Beck, Alexander Miron, Mary B. Daly, Regina M. Santella, John L. Hopper, Esther M. John, Irene L. Andrulis, Francine DurocherJeffery P. Struewing, Douglas F. Easton, Georgia Chenevix-Trench

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23 Scopus citations

Abstract

This is by far the largest study of its kind to date, and further suggests that AIB1 does not play a substantial role in modifying the phenotype of BRCA1 and BRCA2 carriers. The AIB1 gene encodes the AIB1/SRC-3 steroid hormone receptor coactivator, and amplification of the gene and/or protein occurs in breast and ovarian tumors. A CAG/CAA repeat length polymorphism encodes a stretch of 17 to 29 glutamines in the HR-interacting carboxyl-terminal region of the protein which is somatically unstable in tumor tissues and cell lines. There is conflicting evidence regarding the role of this polymorphism as a modifier of breast cancer risk in BRCA1 and BRCA2 carriers. To further evaluate the evidence for an association between AIB1 glutamine repeat length and breast cancer risk in BRCA1 and BRCA2 mutation carriers, we have genotyped this polymorphism in 1,090 BRCA1 and 661 BRCA2 mutation carriers from Australia, Europe, and North America. There was no evidence for an increased risk associated with AIB1 glutamine repeat length. Given the large sample size, with more than adequate power to detect previously reported effects, we conclude that the AIB1 glutamine repeat does not substantially modify risk of breast cancer in BRCA1 and BRCA2 mutation carriers.

Original language	English
Pages (from-to)	76-79
Number of pages	4
Journal	Cancer Epidemiology Biomarkers and Prevention
Volume	15
Issue number	1
DOIs	https://doi.org/10.1158/1055-9965.EPI-05-0709
State	Published - Jan 2006

Keywords

Acetyltransferases/genetics
Breast Neoplasms/genetics
Female
Genes, BRCA1
Genes, BRCA2
Genetic Predisposition to Disease
Genotype
Histone Acetyltransferases
Humans
Mutation
Nuclear Receptor Coactivator 3
Oncogene Proteins/genetics
Peptides/genetics
Polymorphism, Genetic
Proportional Hazards Models
Repetitive Sequences, Nucleic Acid
Risk
Trans-Activators/genetics

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1158/1055-9965.EPI-05-0709

Cite this

Spurdle, A. B., Antoniou, A. C., Kelemen, L., Holland, H., Peock, S., Cook, M. R., Smith, P. L., Greene, M. H., Simard, J., Plourde, M., Southey, M. C., Godwin, A. K., Beck, J., Miron, A., Daly, M. B., Santella, R. M., Hopper, J. L., John, E. M., Andrulis, I. L., ... Chenevix-Trench, G. (2006). The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology Biomarkers and Prevention, 15(1), 76-79. https://doi.org/10.1158/1055-9965.EPI-05-0709

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title = "The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers",

abstract = "This is by far the largest study of its kind to date, and further suggests that AIB1 does not play a substantial role in modifying the phenotype of BRCA1 and BRCA2 carriers. The AIB1 gene encodes the AIB1/SRC-3 steroid hormone receptor coactivator, and amplification of the gene and/or protein occurs in breast and ovarian tumors. A CAG/CAA repeat length polymorphism encodes a stretch of 17 to 29 glutamines in the HR-interacting carboxyl-terminal region of the protein which is somatically unstable in tumor tissues and cell lines. There is conflicting evidence regarding the role of this polymorphism as a modifier of breast cancer risk in BRCA1 and BRCA2 carriers. To further evaluate the evidence for an association between AIB1 glutamine repeat length and breast cancer risk in BRCA1 and BRCA2 mutation carriers, we have genotyped this polymorphism in 1,090 BRCA1 and 661 BRCA2 mutation carriers from Australia, Europe, and North America. There was no evidence for an increased risk associated with AIB1 glutamine repeat length. Given the large sample size, with more than adequate power to detect previously reported effects, we conclude that the AIB1 glutamine repeat does not substantially modify risk of breast cancer in BRCA1 and BRCA2 mutation carriers.",

keywords = "Acetyltransferases/genetics, Breast Neoplasms/genetics, Female, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Genotype, Histone Acetyltransferases, Humans, Mutation, Nuclear Receptor Coactivator 3, Oncogene Proteins/genetics, Peptides/genetics, Polymorphism, Genetic, Proportional Hazards Models, Repetitive Sequences, Nucleic Acid, Risk, Trans-Activators/genetics",

author = "Spurdle, {Amanda B.} and Antoniou, {Antonis C.} and Livia Kelemen and Helene Holland and Susan Peock and Cook, {Margaret R.} and Smith, {Paula L.} and Greene, {Mark H.} and Jacques Simard and Marie Plourde and Southey, {Melissa C.} and Godwin, {Andrew K.} and Jeanne Beck and Alexander Miron and Daly, {Mary B.} and Santella, {Regina M.} and Hopper, {John L.} and John, {Esther M.} and Andrulis, {Irene L.} and Francine Durocher and Struewing, {Jeffery P.} and Easton, {Douglas F.} and Georgia Chenevix-Trench",

note = "(Cancer Epidemiol Biomarkers Prev 2006;15(1):76-9).",

year = "2006",

month = jan,

doi = "10.1158/1055-9965.EPI-05-0709",

language = "English",

volume = "15",

pages = "76--79",

journal = "Cancer Epidemiology Biomarkers and Prevention",

issn = "1055-9965",

publisher = "American Association for Cancer Research Inc.",

number = "1",

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Spurdle, AB, Antoniou, AC, Kelemen, L, Holland, H, Peock, S, Cook, MR, Smith, PL, Greene, MH, Simard, J, Plourde, M, Southey, MC, Godwin, AK, Beck, J, Miron, A, Daly, MB, Santella, RM, Hopper, JL, John, EM, Andrulis, IL, Durocher, F, Struewing, JP, Easton, DF & Chenevix-Trench, G 2006, 'The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers', Cancer Epidemiology Biomarkers and Prevention, vol. 15, no. 1, pp. 76-79. https://doi.org/10.1158/1055-9965.EPI-05-0709

TY - JOUR

T1 - The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

AU - Spurdle, Amanda B.

AU - Antoniou, Antonis C.

AU - Kelemen, Livia

AU - Holland, Helene

AU - Peock, Susan

AU - Cook, Margaret R.

AU - Smith, Paula L.

AU - Greene, Mark H.

AU - Simard, Jacques

AU - Plourde, Marie

AU - Southey, Melissa C.

AU - Godwin, Andrew K.

AU - Beck, Jeanne

AU - Miron, Alexander

AU - Daly, Mary B.

AU - Santella, Regina M.

AU - Hopper, John L.

AU - John, Esther M.

AU - Andrulis, Irene L.

AU - Durocher, Francine

AU - Struewing, Jeffery P.

AU - Easton, Douglas F.

AU - Chenevix-Trench, Georgia

N1 - (Cancer Epidemiol Biomarkers Prev 2006;15(1):76-9).

PY - 2006/1

Y1 - 2006/1

N2 - This is by far the largest study of its kind to date, and further suggests that AIB1 does not play a substantial role in modifying the phenotype of BRCA1 and BRCA2 carriers. The AIB1 gene encodes the AIB1/SRC-3 steroid hormone receptor coactivator, and amplification of the gene and/or protein occurs in breast and ovarian tumors. A CAG/CAA repeat length polymorphism encodes a stretch of 17 to 29 glutamines in the HR-interacting carboxyl-terminal region of the protein which is somatically unstable in tumor tissues and cell lines. There is conflicting evidence regarding the role of this polymorphism as a modifier of breast cancer risk in BRCA1 and BRCA2 carriers. To further evaluate the evidence for an association between AIB1 glutamine repeat length and breast cancer risk in BRCA1 and BRCA2 mutation carriers, we have genotyped this polymorphism in 1,090 BRCA1 and 661 BRCA2 mutation carriers from Australia, Europe, and North America. There was no evidence for an increased risk associated with AIB1 glutamine repeat length. Given the large sample size, with more than adequate power to detect previously reported effects, we conclude that the AIB1 glutamine repeat does not substantially modify risk of breast cancer in BRCA1 and BRCA2 mutation carriers.

AB - This is by far the largest study of its kind to date, and further suggests that AIB1 does not play a substantial role in modifying the phenotype of BRCA1 and BRCA2 carriers. The AIB1 gene encodes the AIB1/SRC-3 steroid hormone receptor coactivator, and amplification of the gene and/or protein occurs in breast and ovarian tumors. A CAG/CAA repeat length polymorphism encodes a stretch of 17 to 29 glutamines in the HR-interacting carboxyl-terminal region of the protein which is somatically unstable in tumor tissues and cell lines. There is conflicting evidence regarding the role of this polymorphism as a modifier of breast cancer risk in BRCA1 and BRCA2 carriers. To further evaluate the evidence for an association between AIB1 glutamine repeat length and breast cancer risk in BRCA1 and BRCA2 mutation carriers, we have genotyped this polymorphism in 1,090 BRCA1 and 661 BRCA2 mutation carriers from Australia, Europe, and North America. There was no evidence for an increased risk associated with AIB1 glutamine repeat length. Given the large sample size, with more than adequate power to detect previously reported effects, we conclude that the AIB1 glutamine repeat does not substantially modify risk of breast cancer in BRCA1 and BRCA2 mutation carriers.

KW - Acetyltransferases/genetics

KW - Breast Neoplasms/genetics

KW - Female

KW - Genes, BRCA1

KW - Genes, BRCA2

KW - Genetic Predisposition to Disease

KW - Genotype

KW - Histone Acetyltransferases

KW - Humans

KW - Mutation

KW - Nuclear Receptor Coactivator 3

KW - Oncogene Proteins/genetics

KW - Peptides/genetics

KW - Polymorphism, Genetic

KW - Proportional Hazards Models

KW - Repetitive Sequences, Nucleic Acid

KW - Risk

KW - Trans-Activators/genetics

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U2 - 10.1158/1055-9965.EPI-05-0709

DO - 10.1158/1055-9965.EPI-05-0709

M3 - Article

C2 - 16434590

SN - 1055-9965

VL - 15

SP - 76

EP - 79

JO - Cancer Epidemiology Biomarkers and Prevention

JF - Cancer Epidemiology Biomarkers and Prevention

IS - 1

ER -

The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

Abstract

Keywords

UN SDGs

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