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BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland

Perkowska, Magdalena; BroZek, Izabela; Wysocka, Barbara; Haraldsson, Karin LU ; Törngren, Therese LU ; Johansson, Ulla LU ; Sellberg, Gunilla LU ; Borg, Åke LU and Limon, Janusz (2003) In Human Mutation 21(5). p.553-554
Abstract
Sixty high-risk breast and/or ovarian cancer families from North-Eastern Poland were screened for germline mutations in BRCA1 (MIM# 113705) and BRCA2 (MIM# 600185), using a combination of protein truncation test, denaturing high-performance liquid chromatography and direct sequencing. Sixteen (27%) of the families were found to carry nine different BRCA mutations, including 14 families with BRCA1 mutation and two families with BRCA2 mutation. The results suggest the presence of two strong BRCA1 founder mutations in the Polish population - 5382insC (6 families) and 300T>G (Cys61Gly; 3 families). The remaining seven mutations were found in single families and included three previously reported BRCA1 mutations (185delAG, 2682C>T... (More)
Sixty high-risk breast and/or ovarian cancer families from North-Eastern Poland were screened for germline mutations in BRCA1 (MIM# 113705) and BRCA2 (MIM# 600185), using a combination of protein truncation test, denaturing high-performance liquid chromatography and direct sequencing. Sixteen (27%) of the families were found to carry nine different BRCA mutations, including 14 families with BRCA1 mutation and two families with BRCA2 mutation. The results suggest the presence of two strong BRCA1 founder mutations in the Polish population - 5382insC (6 families) and 300T>G (Cys61Gly; 3 families). The remaining seven mutations were found in single families and included three previously reported BRCA1 mutations (185delAG, 2682C>T [Gln855Ter] and 3819del5), a novel BRCA1 mutation (IVS14+1G>A), as well as two BRCA2 mutations (4088delA and 7985G>A [Trp2586Ter]) not previously observed in Polish families. We confirm the strong influence of two Central-Eastern European BRCA1 founder mutations in familial breast and/or ovarian cancer in Poland. We also conclude that the Polish population has a more dispersed BRCA mutation spectrum than had been earlier thought. This warrants further careful BRCA mutation screening in order to optimise genetic counselling and disease prevention in affected families. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Human Mutation
volume
21
issue
5
pages
553 - 554
publisher
John Wiley & Sons
external identifiers
  • pmid:12673801
  • scopus:0037405813
ISSN
1059-7794
DOI
language
English
LU publication?
yes
id
1821f21d-ce47-492d-9696-960600141712 (old id 1126995)
date added to LUP
2008-06-10 12:17:08
date last changed
2018-05-29 12:29:49
@article{1821f21d-ce47-492d-9696-960600141712,
  abstract     = {Sixty high-risk breast and/or ovarian cancer families from North-Eastern Poland were screened for germline mutations in BRCA1 (MIM# 113705) and BRCA2 (MIM# 600185), using a combination of protein truncation test, denaturing high-performance liquid chromatography and direct sequencing. Sixteen (27%) of the families were found to carry nine different BRCA mutations, including 14 families with BRCA1 mutation and two families with BRCA2 mutation. The results suggest the presence of two strong BRCA1 founder mutations in the Polish population - 5382insC (6 families) and 300T>G (Cys61Gly; 3 families). The remaining seven mutations were found in single families and included three previously reported BRCA1 mutations (185delAG, 2682C>T [Gln855Ter] and 3819del5), a novel BRCA1 mutation (IVS14+1G>A), as well as two BRCA2 mutations (4088delA and 7985G>A [Trp2586Ter]) not previously observed in Polish families. We confirm the strong influence of two Central-Eastern European BRCA1 founder mutations in familial breast and/or ovarian cancer in Poland. We also conclude that the Polish population has a more dispersed BRCA mutation spectrum than had been earlier thought. This warrants further careful BRCA mutation screening in order to optimise genetic counselling and disease prevention in affected families.},
  author       = {Perkowska, Magdalena and BroZek, Izabela and Wysocka, Barbara and Haraldsson, Karin and Törngren, Therese and Johansson, Ulla and Sellberg, Gunilla and Borg, Åke and Limon, Janusz},
  issn         = {1059-7794},
  language     = {eng},
  number       = {5},
  pages        = {553--554},
  publisher    = {John Wiley & Sons},
  series       = {Human Mutation},
  title        = {BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland},
  url          = {http://dx.doi.org/},
  volume       = {21},
  year         = {2003},
}