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

Access to Document

10.1136/jmg.2009.073544

Link to publication in Scopus

Cite this

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

Verderio, Paolo ; Pizzamiglio, Sara ; Southey, Melissa C. ; Spurdle, Amanda B. ; Hopper, John L. ; Chen, Xiaoqing ; Beesley, Jonathan ; Schmutzler, Rita K. ; Engel, Christoph ; Burwinkel, Barbara ; Bugert, Peter ; Ficarazzi, Filomena ; Manoukian, Siranoush ; Barile, Monica ; Wappenschmidt, Barbara ; Chenevix-Trench, Georgia ; Radice, Paolo ; Peterlongo, Paolo. / A BRCA1 promoter variant (rs11655505) and breast cancer risk. In: Journal of Medical Genetics. 2010 ; Vol. 47, No. 4. pp. 268-270.

@article{af67907140b24bb28d8e4c2b5bacc973,

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",

year = "2010",

month = apr,

day = "1",

doi = "10.1136/jmg.2009.073544",

language = "English",

volume = "47",

pages = "268--270",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ",

number = "4",

}

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

A BRCA1 promoter variant (rs11655505) and breast cancer risk. / Verderio, Paolo; Pizzamiglio, Sara; Southey, Melissa C.; Spurdle, Amanda B.; Hopper, John L.; Chen, Xiaoqing; Beesley, Jonathan; Schmutzler, Rita K.; Engel, Christoph; Burwinkel, Barbara; Bugert, Peter; Ficarazzi, Filomena; Manoukian, Siranoush; Barile, Monica; Wappenschmidt, Barbara; Chenevix-Trench, Georgia; Radice, Paolo; Peterlongo, Paolo.

In: Journal of Medical Genetics, Vol. 47, No. 4, 01.04.2010, p. 268-270.

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

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 - http://www.scopus.com/inward/record.url?scp=77951601362&partnerID=8YFLogxK

U2 - 10.1136/jmg.2009.073544

DO - 10.1136/jmg.2009.073544

M3 - Article

C2 - 20413709

AN - SCOPUS:77951601362

VL - 47

SP - 268

EP - 270

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 4

ER -