Advanced

First BRCA1 and BRCA2 gene testing implemented in the health care system of Stockholm

Arver, Brita; Borg, Åke LU and Lindblom, Annika (2001) In Genetic Testing 5(1). p.41282-41282
Abstract
The aim of the study was to optimize the criteria for the BRCA1 and BRCA2 gene testing and to improve oncogenetic counseling in the Stockholm region. Screening for inherited breast cancer genes is laborious and a majority of tested samples turn out to be negative. The frequencies of mutations in the BRCA1 and BRCA2 genes differ across populations. Between 1997 and 2000, 160 families with breast and/or ovarian cancer were counseled and screened for mutations in the two genes. Twenty-five BRCA1 and two BRCA2 disease-causing mutations were found. Various factors associated with the probability of finding a BRCA1 mutation in the families were estimated. Age of onset in different generations and other malignancies were also studied. Families... (More)
The aim of the study was to optimize the criteria for the BRCA1 and BRCA2 gene testing and to improve oncogenetic counseling in the Stockholm region. Screening for inherited breast cancer genes is laborious and a majority of tested samples turn out to be negative. The frequencies of mutations in the BRCA1 and BRCA2 genes differ across populations. Between 1997 and 2000, 160 families with breast and/or ovarian cancer were counseled and screened for mutations in the two genes. Twenty-five BRCA1 and two BRCA2 disease-causing mutations were found. Various factors associated with the probability of finding a BRCA1 mutation in the families were estimated. Age of onset in different generations and other malignancies were also studied. Families from our region in which both breast and ovarian cancer occur were likely to carry a BRCA1 mutation (34%). In breast-only cancer families, mutations were found only in those with very early onset. All breast-only cancer families with a mutation had at least one case of onset before 36 years of age and a young median age of onset (< 43 years). Other malignancies than breast and ovarian cancers did not segregate in the BRCA1 families and surveillance for other malignancies is not needed, in general. Decreasing age of onset with successive generations was common and must be taken into account when surveillance options are considered. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Genetic Testing
volume
5
issue
1
pages
41282 - 41282
publisher
Mary Ann Liebert, Inc.
external identifiers
  • wos:000168253800001
  • scopus:0035055778
ISSN
1557-7473
DOI
10.1089/109065701750168581
language
English
LU publication?
yes
id
272c9267-1bed-4a61-bc49-9ff4e24d8c21 (old id 1119279)
date added to LUP
2008-06-24 11:19:22
date last changed
2018-05-29 09:24:48
@article{272c9267-1bed-4a61-bc49-9ff4e24d8c21,
  abstract     = {The aim of the study was to optimize the criteria for the BRCA1 and BRCA2 gene testing and to improve oncogenetic counseling in the Stockholm region. Screening for inherited breast cancer genes is laborious and a majority of tested samples turn out to be negative. The frequencies of mutations in the BRCA1 and BRCA2 genes differ across populations. Between 1997 and 2000, 160 families with breast and/or ovarian cancer were counseled and screened for mutations in the two genes. Twenty-five BRCA1 and two BRCA2 disease-causing mutations were found. Various factors associated with the probability of finding a BRCA1 mutation in the families were estimated. Age of onset in different generations and other malignancies were also studied. Families from our region in which both breast and ovarian cancer occur were likely to carry a BRCA1 mutation (34%). In breast-only cancer families, mutations were found only in those with very early onset. All breast-only cancer families with a mutation had at least one case of onset before 36 years of age and a young median age of onset (&lt; 43 years). Other malignancies than breast and ovarian cancers did not segregate in the BRCA1 families and surveillance for other malignancies is not needed, in general. Decreasing age of onset with successive generations was common and must be taken into account when surveillance options are considered.},
  author       = {Arver, Brita and Borg, Åke and Lindblom, Annika},
  issn         = {1557-7473},
  language     = {eng},
  number       = {1},
  pages        = {41282--41282},
  publisher    = {Mary Ann Liebert, Inc.},
  series       = {Genetic Testing},
  title        = {First BRCA1 and BRCA2 gene testing implemented in the health care system of Stockholm},
  url          = {http://dx.doi.org/10.1089/109065701750168581},
  volume       = {5},
  year         = {2001},
}