Identification of the breast cancer susceptibility gene BRCA2

Richard Wooster, Graham Bignell, Jonathan Lancaster, Sally Swift, Sheila Seal, Jonathan Mangion, Nadine Collins, Simon Gregory, Curtis Gumbs, Gos Micklem, Rita Barfoot, Rifat Hamoudi, Sandeep Patel, Catherine Rices, Patrick Biggs, Yasmin Hashim, Amanda Smith, Frances Connor, Adalgeir Arason, Julius Gudmundsson & 21 others David Ficenec, David Kelsell, Deborah Ford, Patricia Tonin, D. Timothy Bishop, Nigel K. Spurr, Bruce A J Ponder, Rosalind Eeles, Julian Peto, Peter Devilee, Cees Cornelisse, Henry T. Lynch, Steven Narod, Gilbert Lenoir, Valdgardur Egilsson, Rosa Bjork Barkadottir, Douglas F. Easton, David R. Bentley, P. Andrew Futreal, Alan Ashworth, Michael R. Stratton

Research output: Contribution to journalArticle

2566 Citations (Scopus)

Abstract

IN Western Europe and the United States approximately 1 in 12 women develop breast cancer. A small proportion of breast cancer cases, in particular those arising at a young age, are attributable to a highly penetrant, autosomal dominant predisposition to the disease. The breast cancer susceptibility gene, BRCA2, was recently localized to chromosome 13q12-q13. Here we report the identification of a gene in which we have detected six different germline mutations in breast cancer families that are likely to be due to BRCA2. Each mutation causes serious disruption to the open reading frame of the transcriptional unit. The results indicate that this is the BRCA2 gene.

Original languageEnglish
Pages (from-to)789-792
Number of pages4
JournalNature
Volume378
Issue number6559
StatePublished - 1995

Fingerprint

Neoplasm Genes
Breast Neoplasms
BRCA2 Gene
Germ-Line Mutation
Open Reading Frames
Chromosomes
Mutation
Genes

All Science Journal Classification (ASJC) codes

  • General

Cite this

Wooster, R., Bignell, G., Lancaster, J., Swift, S., Seal, S., Mangion, J., ... Stratton, M. R. (1995). Identification of the breast cancer susceptibility gene BRCA2. Nature, 378(6559), 789-792.

Identification of the breast cancer susceptibility gene BRCA2. / Wooster, Richard; Bignell, Graham; Lancaster, Jonathan; Swift, Sally; Seal, Sheila; Mangion, Jonathan; Collins, Nadine; Gregory, Simon; Gumbs, Curtis; Micklem, Gos; Barfoot, Rita; Hamoudi, Rifat; Patel, Sandeep; Rices, Catherine; Biggs, Patrick; Hashim, Yasmin; Smith, Amanda; Connor, Frances; Arason, Adalgeir; Gudmundsson, Julius; Ficenec, David; Kelsell, David; Ford, Deborah; Tonin, Patricia; Timothy Bishop, D.; Spurr, Nigel K.; Ponder, Bruce A J; Eeles, Rosalind; Peto, Julian; Devilee, Peter; Cornelisse, Cees; Lynch, Henry T.; Narod, Steven; Lenoir, Gilbert; Egilsson, Valdgardur; Bjork Barkadottir, Rosa; Easton, Douglas F.; Bentley, David R.; Futreal, P. Andrew; Ashworth, Alan; Stratton, Michael R.

In: Nature, Vol. 378, No. 6559, 1995, p. 789-792.

Research output: Contribution to journalArticle

Wooster, R, Bignell, G, Lancaster, J, Swift, S, Seal, S, Mangion, J, Collins, N, Gregory, S, Gumbs, C, Micklem, G, Barfoot, R, Hamoudi, R, Patel, S, Rices, C, Biggs, P, Hashim, Y, Smith, A, Connor, F, Arason, A, Gudmundsson, J, Ficenec, D, Kelsell, D, Ford, D, Tonin, P, Timothy Bishop, D, Spurr, NK, Ponder, BAJ, Eeles, R, Peto, J, Devilee, P, Cornelisse, C, Lynch, HT, Narod, S, Lenoir, G, Egilsson, V, Bjork Barkadottir, R, Easton, DF, Bentley, DR, Futreal, PA, Ashworth, A & Stratton, MR 1995, 'Identification of the breast cancer susceptibility gene BRCA2', Nature, vol. 378, no. 6559, pp. 789-792.
Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378(6559):789-792.
Wooster, Richard ; Bignell, Graham ; Lancaster, Jonathan ; Swift, Sally ; Seal, Sheila ; Mangion, Jonathan ; Collins, Nadine ; Gregory, Simon ; Gumbs, Curtis ; Micklem, Gos ; Barfoot, Rita ; Hamoudi, Rifat ; Patel, Sandeep ; Rices, Catherine ; Biggs, Patrick ; Hashim, Yasmin ; Smith, Amanda ; Connor, Frances ; Arason, Adalgeir ; Gudmundsson, Julius ; Ficenec, David ; Kelsell, David ; Ford, Deborah ; Tonin, Patricia ; Timothy Bishop, D. ; Spurr, Nigel K. ; Ponder, Bruce A J ; Eeles, Rosalind ; Peto, Julian ; Devilee, Peter ; Cornelisse, Cees ; Lynch, Henry T. ; Narod, Steven ; Lenoir, Gilbert ; Egilsson, Valdgardur ; Bjork Barkadottir, Rosa ; Easton, Douglas F. ; Bentley, David R. ; Futreal, P. Andrew ; Ashworth, Alan ; Stratton, Michael R. / Identification of the breast cancer susceptibility gene BRCA2. In: Nature. 1995 ; Vol. 378, No. 6559. pp. 789-792.
@article{492465a4c97447978475378d058728f5,
title = "Identification of the breast cancer susceptibility gene BRCA2",
abstract = "IN Western Europe and the United States approximately 1 in 12 women develop breast cancer. A small proportion of breast cancer cases, in particular those arising at a young age, are attributable to a highly penetrant, autosomal dominant predisposition to the disease. The breast cancer susceptibility gene, BRCA2, was recently localized to chromosome 13q12-q13. Here we report the identification of a gene in which we have detected six different germline mutations in breast cancer families that are likely to be due to BRCA2. Each mutation causes serious disruption to the open reading frame of the transcriptional unit. The results indicate that this is the BRCA2 gene.",
author = "Richard Wooster and Graham Bignell and Jonathan Lancaster and Sally Swift and Sheila Seal and Jonathan Mangion and Nadine Collins and Simon Gregory and Curtis Gumbs and Gos Micklem and Rita Barfoot and Rifat Hamoudi and Sandeep Patel and Catherine Rices and Patrick Biggs and Yasmin Hashim and Amanda Smith and Frances Connor and Adalgeir Arason and Julius Gudmundsson and David Ficenec and David Kelsell and Deborah Ford and Patricia Tonin and {Timothy Bishop}, D. and Spurr, {Nigel K.} and Ponder, {Bruce A J} and Rosalind Eeles and Julian Peto and Peter Devilee and Cees Cornelisse and Lynch, {Henry T.} and Steven Narod and Gilbert Lenoir and Valdgardur Egilsson and {Bjork Barkadottir}, Rosa and Easton, {Douglas F.} and Bentley, {David R.} and Futreal, {P. Andrew} and Alan Ashworth and Stratton, {Michael R.}",
year = "1995",
language = "English",
volume = "378",
pages = "789--792",
journal = "Nature",
issn = "0028-0836",
publisher = "Nature Publishing Group",
number = "6559",

}

TY - JOUR

T1 - Identification of the breast cancer susceptibility gene BRCA2

AU - Wooster, Richard

AU - Bignell, Graham

AU - Lancaster, Jonathan

AU - Swift, Sally

AU - Seal, Sheila

AU - Mangion, Jonathan

AU - Collins, Nadine

AU - Gregory, Simon

AU - Gumbs, Curtis

AU - Micklem, Gos

AU - Barfoot, Rita

AU - Hamoudi, Rifat

AU - Patel, Sandeep

AU - Rices, Catherine

AU - Biggs, Patrick

AU - Hashim, Yasmin

AU - Smith, Amanda

AU - Connor, Frances

AU - Arason, Adalgeir

AU - Gudmundsson, Julius

AU - Ficenec, David

AU - Kelsell, David

AU - Ford, Deborah

AU - Tonin, Patricia

AU - Timothy Bishop, D.

AU - Spurr, Nigel K.

AU - Ponder, Bruce A J

AU - Eeles, Rosalind

AU - Peto, Julian

AU - Devilee, Peter

AU - Cornelisse, Cees

AU - Lynch, Henry T.

AU - Narod, Steven

AU - Lenoir, Gilbert

AU - Egilsson, Valdgardur

AU - Bjork Barkadottir, Rosa

AU - Easton, Douglas F.

AU - Bentley, David R.

AU - Futreal, P. Andrew

AU - Ashworth, Alan

AU - Stratton, Michael R.

PY - 1995

Y1 - 1995

N2 - IN Western Europe and the United States approximately 1 in 12 women develop breast cancer. A small proportion of breast cancer cases, in particular those arising at a young age, are attributable to a highly penetrant, autosomal dominant predisposition to the disease. The breast cancer susceptibility gene, BRCA2, was recently localized to chromosome 13q12-q13. Here we report the identification of a gene in which we have detected six different germline mutations in breast cancer families that are likely to be due to BRCA2. Each mutation causes serious disruption to the open reading frame of the transcriptional unit. The results indicate that this is the BRCA2 gene.

AB - IN Western Europe and the United States approximately 1 in 12 women develop breast cancer. A small proportion of breast cancer cases, in particular those arising at a young age, are attributable to a highly penetrant, autosomal dominant predisposition to the disease. The breast cancer susceptibility gene, BRCA2, was recently localized to chromosome 13q12-q13. Here we report the identification of a gene in which we have detected six different germline mutations in breast cancer families that are likely to be due to BRCA2. Each mutation causes serious disruption to the open reading frame of the transcriptional unit. The results indicate that this is the BRCA2 gene.

UR - http://www.scopus.com/inward/record.url?scp=0006713602&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0006713602&partnerID=8YFLogxK

M3 - Article

VL - 378

SP - 789

EP - 792

JO - Nature

JF - Nature

SN - 0028-0836

IS - 6559

ER -