A BRCA1 promoter variant (rs11655505) and breast cancer risk

Paolo Verderio; Sara Pizzamiglio; Melissa C. Southey; Amanda B. Spurdle; John L. Hopper; Xiaoqing Chen; Jonathan Beesley; Rita K. Schmutzler; Christoph Engel; Barbara Burwinkel; Peter Bugert; Filomena Ficarazzi; Siranoush Manoukian; Monica Barile; Barbara Wappenschmidt; Georgia Chenevix-Trench; Paolo Radice; Paolo Peterlongo

doi:10.1136/jmg.2009.073544

A BRCA1 promoter variant (rs11655505) and breast cancer risk

Paolo Verderio
, Sara Pizzamiglio
, Melissa C. Southey
, Amanda B. Spurdle
, John L. Hopper
, Xiaoqing Chen
, Jonathan Beesley
, Rita K. Schmutzler
, Christoph Engel
, Barbara Burwinkel
, Peter Bugert
, Filomena Ficarazzi
, Siranoush Manoukian
, Monica Barile
, Barbara Wappenschmidt
, Georgia Chenevix-Trench
, Paolo Radice
, Paolo Peterlongo

Research output: Contribution to journal › Article › Research › peer-review

6 Citations (Scopus)

Abstract

Background: A study of Chinese women recently suggested that the minor allele of rs11655505 in the BRCA1 promoter (c.-2265C→T) increases promoter activity and has a protective effect on breast cancer risk. Methods: We genotyped rs11655505 in 2912 female breast cancer cases and 2783 unaffected female controls from four Caucasian breast cancer studies. Results: No evidence for an association between rs11655505 and breast cancer risk was found. Conclusions: Our study failed to confirm a role of rs11655505 in breast cancer risk. Larger studies are necessary to determine if there is a weak association between this SNP and breast cancer risk.

Original language	English
Pages (from-to)	268-270
Number of pages	3
Journal	Journal of Medical Genetics
Volume	47
Issue number	4
DOIs	https://doi.org/10.1136/jmg.2009.073544
Publication status	Published - 1 Apr 2010
Externally published	Yes

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

SDG 3 Good Health and Well-being

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10.1136/jmg.2009.073544

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Verderio, P., Pizzamiglio, S., Southey, M. C., Spurdle, A. B., Hopper, J. L., Chen, X., Beesley, J., Schmutzler, R. K., Engel, C., Burwinkel, B., Bugert, P., Ficarazzi, F., Manoukian, S., Barile, M., Wappenschmidt, B., Chenevix-Trench, G., Radice, P., & Peterlongo, P. (2010). A BRCA1 promoter variant (rs11655505) and breast cancer risk. Journal of Medical Genetics, 47(4), 268-270. https://doi.org/10.1136/jmg.2009.073544

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title = "A BRCA1 promoter variant (rs11655505) and breast cancer risk",

abstract = "Background: A study of Chinese women recently suggested that the minor allele of rs11655505 in the BRCA1 promoter (c.-2265C→T) increases promoter activity and has a protective effect on breast cancer risk. Methods: We genotyped rs11655505 in 2912 female breast cancer cases and 2783 unaffected female controls from four Caucasian breast cancer studies. Results: No evidence for an association between rs11655505 and breast cancer risk was found. Conclusions: Our study failed to confirm a role of rs11655505 in breast cancer risk. Larger studies are necessary to determine if there is a weak association between this SNP and breast cancer risk.",

author = "Paolo Verderio and Sara Pizzamiglio and Southey, \{Melissa C.\} and Spurdle, \{Amanda B.\} and Hopper, \{John L.\} and Xiaoqing Chen and Jonathan Beesley and Schmutzler, \{Rita K.\} and Christoph Engel and Barbara Burwinkel and Peter Bugert and Filomena Ficarazzi and Siranoush Manoukian and Monica Barile and Barbara Wappenschmidt and Georgia Chenevix-Trench and Paolo Radice and Paolo Peterlongo",

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Verderio, P, Pizzamiglio, S, Southey, MC, Spurdle, AB, Hopper, JL, Chen, X, Beesley, J, Schmutzler, RK, Engel, C, Burwinkel, B, Bugert, P, Ficarazzi, F, Manoukian, S, Barile, M, Wappenschmidt, B, Chenevix-Trench, G, Radice, P & Peterlongo, P 2010, 'A BRCA1 promoter variant (rs11655505) and breast cancer risk', Journal of Medical Genetics, vol. 47, no. 4, pp. 268-270. https://doi.org/10.1136/jmg.2009.073544

TY - JOUR

T1 - A BRCA1 promoter variant (rs11655505) and breast cancer risk

AU - Verderio, Paolo

AU - Pizzamiglio, Sara

AU - Southey, Melissa C.

AU - Spurdle, Amanda B.

AU - Hopper, John L.

AU - Chen, Xiaoqing

AU - Beesley, Jonathan

AU - Schmutzler, Rita K.

AU - Engel, Christoph

AU - Burwinkel, Barbara

AU - Bugert, Peter

AU - Ficarazzi, Filomena

AU - Manoukian, Siranoush

AU - Barile, Monica

AU - Wappenschmidt, Barbara

AU - Chenevix-Trench, Georgia

AU - Radice, Paolo

AU - Peterlongo, Paolo

PY - 2010/4/1

Y1 - 2010/4/1

N2 - Background: A study of Chinese women recently suggested that the minor allele of rs11655505 in the BRCA1 promoter (c.-2265C→T) increases promoter activity and has a protective effect on breast cancer risk. Methods: We genotyped rs11655505 in 2912 female breast cancer cases and 2783 unaffected female controls from four Caucasian breast cancer studies. Results: No evidence for an association between rs11655505 and breast cancer risk was found. Conclusions: Our study failed to confirm a role of rs11655505 in breast cancer risk. Larger studies are necessary to determine if there is a weak association between this SNP and breast cancer risk.

AB - Background: A study of Chinese women recently suggested that the minor allele of rs11655505 in the BRCA1 promoter (c.-2265C→T) increases promoter activity and has a protective effect on breast cancer risk. Methods: We genotyped rs11655505 in 2912 female breast cancer cases and 2783 unaffected female controls from four Caucasian breast cancer studies. Results: No evidence for an association between rs11655505 and breast cancer risk was found. Conclusions: Our study failed to confirm a role of rs11655505 in breast cancer risk. Larger studies are necessary to determine if there is a weak association between this SNP and breast cancer risk.

UR - https://www.scopus.com/pages/publications/77951601362

U2 - 10.1136/jmg.2009.073544

DO - 10.1136/jmg.2009.073544

M3 - Article

C2 - 20413709

AN - SCOPUS:77951601362

SN - 0022-2593

VL - 47

SP - 268

EP - 270

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 4

ER -

A BRCA1 promoter variant (rs11655505) and breast cancer risk

Abstract

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