BRCA1 promoter deletions in young women with breast cancer and a strong family history

A population-based study

L. D. Smith, A. A. Tesoriero, S. J. Ramus, G. Dite, S. G. Royce, G. G. Giles, M. R. E. McCredie, J. L. Hopper, M. C. Southey

Research output: Contribution to journalArticleResearchpeer-review

14 Citations (Scopus)

Abstract

Women diagnosed with breast cancer before the age of 40 years who have a strong family history of breast and/or ovarian cancer were selected from an Australian population-based case-control-family study for large deletion screening within the BRCA1 promoter. Deletions within the BRCA1 promoter region are usually not detected by the methods applied in routine clinical mutation detection strategies. Fifty-one of the 66 women (77%) who met our inclusion criteria were tested for promoter deletions using linkage disequilibrium analysis of two BRCA1 polymorphic sites (C/G1802 and Pro871Leu) and multiplex ligation-dependent probe amplification. Two cases of BRCA1 promoter deletion involving exons 1A-2 and exons 1A-23 were detected. The morphology of the breast cancers arising in these women with BRCA1 promoter deletions was consistent with the morphology associated with other germline BRCA1 mutations. Large genomic deletions that involve the promoter regions of BRCA1 make up 20% (2/10) of all known BRCA1 mutations in this group of young women with a strong family history of breast and ovarian cancer. Our data support the inclusion of testing for large genomic alterations in the BRCA1 promoter region in routine clinical mutation detection within BRCA1.

Original languageEnglish
Pages (from-to)823-827
Number of pages5
JournalEuropean Journal of Cancer
Volume43
Issue number5
DOIs
Publication statusPublished - Mar 2007
Externally publishedYes

Keywords

  • BRCA1 promoter
  • Early-onset breast cancer
  • Large deletions

Cite this

Smith, L. D. ; Tesoriero, A. A. ; Ramus, S. J. ; Dite, G. ; Royce, S. G. ; Giles, G. G. ; McCredie, M. R. E. ; Hopper, J. L. ; Southey, M. C. / BRCA1 promoter deletions in young women with breast cancer and a strong family history : A population-based study. In: European Journal of Cancer. 2007 ; Vol. 43, No. 5. pp. 823-827.
@article{9f6042a16ad74a3c927ef3d9730d4f41,
title = "BRCA1 promoter deletions in young women with breast cancer and a strong family history: A population-based study",
abstract = "Women diagnosed with breast cancer before the age of 40 years who have a strong family history of breast and/or ovarian cancer were selected from an Australian population-based case-control-family study for large deletion screening within the BRCA1 promoter. Deletions within the BRCA1 promoter region are usually not detected by the methods applied in routine clinical mutation detection strategies. Fifty-one of the 66 women (77{\%}) who met our inclusion criteria were tested for promoter deletions using linkage disequilibrium analysis of two BRCA1 polymorphic sites (C/G1802 and Pro871Leu) and multiplex ligation-dependent probe amplification. Two cases of BRCA1 promoter deletion involving exons 1A-2 and exons 1A-23 were detected. The morphology of the breast cancers arising in these women with BRCA1 promoter deletions was consistent with the morphology associated with other germline BRCA1 mutations. Large genomic deletions that involve the promoter regions of BRCA1 make up 20{\%} (2/10) of all known BRCA1 mutations in this group of young women with a strong family history of breast and ovarian cancer. Our data support the inclusion of testing for large genomic alterations in the BRCA1 promoter region in routine clinical mutation detection within BRCA1.",
keywords = "BRCA1 promoter, Early-onset breast cancer, Large deletions",
author = "Smith, {L. D.} and Tesoriero, {A. A.} and Ramus, {S. J.} and G. Dite and Royce, {S. G.} and Giles, {G. G.} and McCredie, {M. R. E.} and Hopper, {J. L.} and Southey, {M. C.}",
year = "2007",
month = "3",
doi = "10.1016/j.ejca.2007.01.011",
language = "English",
volume = "43",
pages = "823--827",
journal = "European Journal of Cancer",
issn = "0959-8049",
publisher = "Elsevier",
number = "5",

}

BRCA1 promoter deletions in young women with breast cancer and a strong family history : A population-based study. / Smith, L. D.; Tesoriero, A. A.; Ramus, S. J.; Dite, G.; Royce, S. G.; Giles, G. G.; McCredie, M. R. E.; Hopper, J. L.; Southey, M. C.

In: European Journal of Cancer, Vol. 43, No. 5, 03.2007, p. 823-827.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - BRCA1 promoter deletions in young women with breast cancer and a strong family history

T2 - A population-based study

AU - Smith, L. D.

AU - Tesoriero, A. A.

AU - Ramus, S. J.

AU - Dite, G.

AU - Royce, S. G.

AU - Giles, G. G.

AU - McCredie, M. R. E.

AU - Hopper, J. L.

AU - Southey, M. C.

PY - 2007/3

Y1 - 2007/3

N2 - Women diagnosed with breast cancer before the age of 40 years who have a strong family history of breast and/or ovarian cancer were selected from an Australian population-based case-control-family study for large deletion screening within the BRCA1 promoter. Deletions within the BRCA1 promoter region are usually not detected by the methods applied in routine clinical mutation detection strategies. Fifty-one of the 66 women (77%) who met our inclusion criteria were tested for promoter deletions using linkage disequilibrium analysis of two BRCA1 polymorphic sites (C/G1802 and Pro871Leu) and multiplex ligation-dependent probe amplification. Two cases of BRCA1 promoter deletion involving exons 1A-2 and exons 1A-23 were detected. The morphology of the breast cancers arising in these women with BRCA1 promoter deletions was consistent with the morphology associated with other germline BRCA1 mutations. Large genomic deletions that involve the promoter regions of BRCA1 make up 20% (2/10) of all known BRCA1 mutations in this group of young women with a strong family history of breast and ovarian cancer. Our data support the inclusion of testing for large genomic alterations in the BRCA1 promoter region in routine clinical mutation detection within BRCA1.

AB - Women diagnosed with breast cancer before the age of 40 years who have a strong family history of breast and/or ovarian cancer were selected from an Australian population-based case-control-family study for large deletion screening within the BRCA1 promoter. Deletions within the BRCA1 promoter region are usually not detected by the methods applied in routine clinical mutation detection strategies. Fifty-one of the 66 women (77%) who met our inclusion criteria were tested for promoter deletions using linkage disequilibrium analysis of two BRCA1 polymorphic sites (C/G1802 and Pro871Leu) and multiplex ligation-dependent probe amplification. Two cases of BRCA1 promoter deletion involving exons 1A-2 and exons 1A-23 were detected. The morphology of the breast cancers arising in these women with BRCA1 promoter deletions was consistent with the morphology associated with other germline BRCA1 mutations. Large genomic deletions that involve the promoter regions of BRCA1 make up 20% (2/10) of all known BRCA1 mutations in this group of young women with a strong family history of breast and ovarian cancer. Our data support the inclusion of testing for large genomic alterations in the BRCA1 promoter region in routine clinical mutation detection within BRCA1.

KW - BRCA1 promoter

KW - Early-onset breast cancer

KW - Large deletions

UR - http://www.scopus.com/inward/record.url?scp=33847682259&partnerID=8YFLogxK

U2 - 10.1016/j.ejca.2007.01.011

DO - 10.1016/j.ejca.2007.01.011

M3 - Article

VL - 43

SP - 823

EP - 827

JO - European Journal of Cancer

JF - European Journal of Cancer

SN - 0959-8049

IS - 5

ER -