BRCA1 and BRCA2 mutations in Scotland and Northern Ireland

E. Anderson, V. Anderson, D. Baty, C. Beers, D. Black, R. Black, M. Boyd, A. Bradley, D. Brewster, Iain Brown, Benedict Jon Milner, Scottish No Irish BRCA1 BRCA2 Con

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

BRCA1 and BRCA2 mutations have been identified in 107 families in Scotland and Northern Ireland. Ninety-seven of these families had been referred to regional cancer genetics centres and a further 10 were identified from a sequential series of male breast cancers treated in Edinburgh. Fifty-nine of the families had a mutation in BRCA1 and 46 in BRCA2. Two families had both. Family trees were extended and cancer diagnoses verified by means of the unusually complete and accessible Scottish and Northern Irish records: Ten specific recurring mutations (five in each gene) accounted for almost half of the total detected, and almost one-quarter were accounted for by just two (BRCA1 2800 delAA and BRCA2 6503 delTT). The prevalence of breast cancer is similar for BRCA1 and BRCA2 mutation families (average 3.7 and 3.6 per family), but the former have a much greater risk of ovarian cancer (average I :5 and 0.6 per family, respectively). For breast cancer, age of onset tended to be younger in BRCA1 mutation carriers but, for ovarian cancer, there was no difference between BRCA1 and BRCA2 families in mean age at diagnosis. Mutations within the 5' two-thirds of BRCA1 carry a significantly higher relative risk of ovarian cancer and the same is true for mutations within the central portion of BRCA2 (the 'OCCR'). In the former case, this appears to be because of differences in absolute risk for both ovarian and breast cancer, while, in the latter, only ovarian cancer risk varies significantly. The findings confirm that founder mutations are present within the Scottish/Northem Irish population and have implications for the organisation of molecular screening services. (C) 2003 Cancer Research UK.

Original languageEnglish
Pages (from-to)1256-1262
Number of pages6
JournalBritish Journal of Cancer
Volume88
DOIs
Publication statusPublished - 2003

Keywords

  • breast cancer
  • familial
  • BRCA1
  • BRCA2
  • Scotland
  • Northern Ireland
  • OVARIAN-CANCER FAMILIES
  • SINGLE NUCLEOTIDE POLYMORPHISM
  • GERM-LINE MUTATIONS
  • BREAST-CANCER
  • HEREDITARY BREAST
  • RAPID DETECTION
  • FOUNDER BRCA1
  • GENE
  • POPULATION
  • FREQUENCY

Cite this

Anderson, E., Anderson, V., Baty, D., Beers, C., Black, D., Black, R., ... Scottish No Irish BRCA1 BRCA2 Con (2003). BRCA1 and BRCA2 mutations in Scotland and Northern Ireland. British Journal of Cancer, 88, 1256-1262. https://doi.org/10.1038/sj.bjc.6600840

BRCA1 and BRCA2 mutations in Scotland and Northern Ireland. / Anderson, E.; Anderson, V.; Baty, D.; Beers, C.; Black, D.; Black, R.; Boyd, M.; Bradley, A.; Brewster, D.; Brown, Iain; Milner, Benedict Jon; Scottish No Irish BRCA1 BRCA2 Con.

In: British Journal of Cancer, Vol. 88, 2003, p. 1256-1262.

Research output: Contribution to journalArticle

Anderson, E, Anderson, V, Baty, D, Beers, C, Black, D, Black, R, Boyd, M, Bradley, A, Brewster, D, Brown, I, Milner, BJ & Scottish No Irish BRCA1 BRCA2 Con 2003, 'BRCA1 and BRCA2 mutations in Scotland and Northern Ireland', British Journal of Cancer, vol. 88, pp. 1256-1262. https://doi.org/10.1038/sj.bjc.6600840
Anderson E, Anderson V, Baty D, Beers C, Black D, Black R et al. BRCA1 and BRCA2 mutations in Scotland and Northern Ireland. British Journal of Cancer. 2003;88:1256-1262. https://doi.org/10.1038/sj.bjc.6600840
Anderson, E. ; Anderson, V. ; Baty, D. ; Beers, C. ; Black, D. ; Black, R. ; Boyd, M. ; Bradley, A. ; Brewster, D. ; Brown, Iain ; Milner, Benedict Jon ; Scottish No Irish BRCA1 BRCA2 Con. / BRCA1 and BRCA2 mutations in Scotland and Northern Ireland. In: British Journal of Cancer. 2003 ; Vol. 88. pp. 1256-1262.
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title = "BRCA1 and BRCA2 mutations in Scotland and Northern Ireland",
abstract = "BRCA1 and BRCA2 mutations have been identified in 107 families in Scotland and Northern Ireland. Ninety-seven of these families had been referred to regional cancer genetics centres and a further 10 were identified from a sequential series of male breast cancers treated in Edinburgh. Fifty-nine of the families had a mutation in BRCA1 and 46 in BRCA2. Two families had both. Family trees were extended and cancer diagnoses verified by means of the unusually complete and accessible Scottish and Northern Irish records: Ten specific recurring mutations (five in each gene) accounted for almost half of the total detected, and almost one-quarter were accounted for by just two (BRCA1 2800 delAA and BRCA2 6503 delTT). The prevalence of breast cancer is similar for BRCA1 and BRCA2 mutation families (average 3.7 and 3.6 per family), but the former have a much greater risk of ovarian cancer (average I :5 and 0.6 per family, respectively). For breast cancer, age of onset tended to be younger in BRCA1 mutation carriers but, for ovarian cancer, there was no difference between BRCA1 and BRCA2 families in mean age at diagnosis. Mutations within the 5' two-thirds of BRCA1 carry a significantly higher relative risk of ovarian cancer and the same is true for mutations within the central portion of BRCA2 (the 'OCCR'). In the former case, this appears to be because of differences in absolute risk for both ovarian and breast cancer, while, in the latter, only ovarian cancer risk varies significantly. The findings confirm that founder mutations are present within the Scottish/Northem Irish population and have implications for the organisation of molecular screening services. (C) 2003 Cancer Research UK.",
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author = "E. Anderson and V. Anderson and D. Baty and C. Beers and D. Black and R. Black and M. Boyd and A. Bradley and D. Brewster and Iain Brown and Milner, {Benedict Jon} and {Scottish No Irish BRCA1 BRCA2 Con}",
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T1 - BRCA1 and BRCA2 mutations in Scotland and Northern Ireland

AU - Anderson, E.

AU - Anderson, V.

AU - Baty, D.

AU - Beers, C.

AU - Black, D.

AU - Black, R.

AU - Boyd, M.

AU - Bradley, A.

AU - Brewster, D.

AU - Brown, Iain

AU - Milner, Benedict Jon

AU - Scottish No Irish BRCA1 BRCA2 Con

PY - 2003

Y1 - 2003

N2 - BRCA1 and BRCA2 mutations have been identified in 107 families in Scotland and Northern Ireland. Ninety-seven of these families had been referred to regional cancer genetics centres and a further 10 were identified from a sequential series of male breast cancers treated in Edinburgh. Fifty-nine of the families had a mutation in BRCA1 and 46 in BRCA2. Two families had both. Family trees were extended and cancer diagnoses verified by means of the unusually complete and accessible Scottish and Northern Irish records: Ten specific recurring mutations (five in each gene) accounted for almost half of the total detected, and almost one-quarter were accounted for by just two (BRCA1 2800 delAA and BRCA2 6503 delTT). The prevalence of breast cancer is similar for BRCA1 and BRCA2 mutation families (average 3.7 and 3.6 per family), but the former have a much greater risk of ovarian cancer (average I :5 and 0.6 per family, respectively). For breast cancer, age of onset tended to be younger in BRCA1 mutation carriers but, for ovarian cancer, there was no difference between BRCA1 and BRCA2 families in mean age at diagnosis. Mutations within the 5' two-thirds of BRCA1 carry a significantly higher relative risk of ovarian cancer and the same is true for mutations within the central portion of BRCA2 (the 'OCCR'). In the former case, this appears to be because of differences in absolute risk for both ovarian and breast cancer, while, in the latter, only ovarian cancer risk varies significantly. The findings confirm that founder mutations are present within the Scottish/Northem Irish population and have implications for the organisation of molecular screening services. (C) 2003 Cancer Research UK.

AB - BRCA1 and BRCA2 mutations have been identified in 107 families in Scotland and Northern Ireland. Ninety-seven of these families had been referred to regional cancer genetics centres and a further 10 were identified from a sequential series of male breast cancers treated in Edinburgh. Fifty-nine of the families had a mutation in BRCA1 and 46 in BRCA2. Two families had both. Family trees were extended and cancer diagnoses verified by means of the unusually complete and accessible Scottish and Northern Irish records: Ten specific recurring mutations (five in each gene) accounted for almost half of the total detected, and almost one-quarter were accounted for by just two (BRCA1 2800 delAA and BRCA2 6503 delTT). The prevalence of breast cancer is similar for BRCA1 and BRCA2 mutation families (average 3.7 and 3.6 per family), but the former have a much greater risk of ovarian cancer (average I :5 and 0.6 per family, respectively). For breast cancer, age of onset tended to be younger in BRCA1 mutation carriers but, for ovarian cancer, there was no difference between BRCA1 and BRCA2 families in mean age at diagnosis. Mutations within the 5' two-thirds of BRCA1 carry a significantly higher relative risk of ovarian cancer and the same is true for mutations within the central portion of BRCA2 (the 'OCCR'). In the former case, this appears to be because of differences in absolute risk for both ovarian and breast cancer, while, in the latter, only ovarian cancer risk varies significantly. The findings confirm that founder mutations are present within the Scottish/Northem Irish population and have implications for the organisation of molecular screening services. (C) 2003 Cancer Research UK.

KW - breast cancer

KW - familial

KW - BRCA1

KW - BRCA2

KW - Scotland

KW - Northern Ireland

KW - OVARIAN-CANCER FAMILIES

KW - SINGLE NUCLEOTIDE POLYMORPHISM

KW - GERM-LINE MUTATIONS

KW - BREAST-CANCER

KW - HEREDITARY BREAST

KW - RAPID DETECTION

KW - FOUNDER BRCA1

KW - GENE

KW - POPULATION

KW - FREQUENCY

U2 - 10.1038/sj.bjc.6600840

DO - 10.1038/sj.bjc.6600840

M3 - Article

VL - 88

SP - 1256

EP - 1262

JO - British Journal of Cancer

JF - British Journal of Cancer

SN - 0007-0920

ER -