BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1126995
- author
- Perkowska, Magdalena ; BroZek, Izabela ; Wysocka, Barbara ; Haraldsson, Karin LU ; Törngren, Therese LU ; Johansson, Ulla LU ; Sellberg, Gunilla LU ; Borg, Åke LU and Limon, Janusz
- organization
- publishing date
- 2003
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Human Mutation
- volume
- 21
- issue
- 5
- pages
- 553 - 554
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- pmid:12673801
- scopus:0037405813
- ISSN
- 1059-7794
- DOI
- 10.1002/humu.9139
- language
- English
- LU publication?
- yes
- id
- 1821f21d-ce47-492d-9696-960600141712 (old id 1126995)
- date added to LUP
- 2016-04-01 11:41:37
- date last changed
- 2022-04-12 23:51:49
@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 Inc.}},
series = {{Human Mutation}},
title = {{BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland}},
url = {{http://dx.doi.org/10.1002/humu.9139}},
doi = {{10.1002/humu.9139}},
volume = {{21}},
year = {{2003}},
}