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BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland

Ratajska, Magdalena; Brozek, Izabela; Senkus-Konefka, Elzbieta; Jassem, Jacek; Stepnowska, Magdalena; Palomba, Grazia; Pisano, Marina; Casula, Milena; Palmieri, Giuseppe and Borg, Åke LU , et al. (2008) In Oncology Reports 19(1). p.263-268
Abstract
Sixty-four Polish families with a history of breast and/or ovarian cancer were screened for mutations in the BRCA1/2 genes using a combination of denaturing high performance liquid chromatography (DHPLC) and sequencing. Two thirds (43/64; 67%) of the families were found to carry deleterious mutations, of which the most frequent were BRCA1 5382insC (n=22/43; 51%) and Cys61Gly (n=9/43; 20%). Two other recurrent mutations were BRCA1 185delAG (n=3) and 3819del5 (n=4), together accounting for 16% of the 43 mutation-positive cases. We also found three novel mutations (BRCA1 2991del5, BRCA2 6238ins2del21 and 8876delC) which combined with findings from our earlier study of 60 Northern Polish families. Moreover, screening of 43 BRCA1/2 negative... (More)
Sixty-four Polish families with a history of breast and/or ovarian cancer were screened for mutations in the BRCA1/2 genes using a combination of denaturing high performance liquid chromatography (DHPLC) and sequencing. Two thirds (43/64; 67%) of the families were found to carry deleterious mutations, of which the most frequent were BRCA1 5382insC (n=22/43; 51%) and Cys61Gly (n=9/43; 20%). Two other recurrent mutations were BRCA1 185delAG (n=3) and 3819del5 (n=4), together accounting for 16% of the 43 mutation-positive cases. We also found three novel mutations (BRCA1 2991del5, BRCA2 6238ins2del21 and 8876delC) which combined with findings from our earlier study of 60 Northern Polish families. Moreover, screening of 43 BRCA1/2 negative families for the presence of large rearrangements by multiplex ligation-dependent probe amplification (MLPA) resulted in the finding of two additional BRCA1 mutations: a deletion of exons 1A, 1B and 2, and a deletion of exons 17-19, both present in single families. We conclude that the Polish population has a diverse mutation spectrum influenced by strong founder effects. However, families with strong breast/ovarian cancer history who are negative for these common mutations should be offered a complete BRCA gene screening, including MLPA analysis. (Less)
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Contribution to journal
publication status
published
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in
Oncology Reports
volume
19
issue
1
pages
263 - 268
publisher
D.A. Spandidos
external identifiers
  • pmid:18097605
  • wos:000252036500037
  • scopus:38749123478
ISSN
1791-2431
language
English
LU publication?
yes
id
ad33c1ac-58b0-453c-9ccb-b84edee5b5a7 (old id 1144483)
date added to LUP
2008-08-15 09:38:05
date last changed
2017-11-05 04:11:04
@article{ad33c1ac-58b0-453c-9ccb-b84edee5b5a7,
  abstract     = {Sixty-four Polish families with a history of breast and/or ovarian cancer were screened for mutations in the BRCA1/2 genes using a combination of denaturing high performance liquid chromatography (DHPLC) and sequencing. Two thirds (43/64; 67%) of the families were found to carry deleterious mutations, of which the most frequent were BRCA1 5382insC (n=22/43; 51%) and Cys61Gly (n=9/43; 20%). Two other recurrent mutations were BRCA1 185delAG (n=3) and 3819del5 (n=4), together accounting for 16% of the 43 mutation-positive cases. We also found three novel mutations (BRCA1 2991del5, BRCA2 6238ins2del21 and 8876delC) which combined with findings from our earlier study of 60 Northern Polish families. Moreover, screening of 43 BRCA1/2 negative families for the presence of large rearrangements by multiplex ligation-dependent probe amplification (MLPA) resulted in the finding of two additional BRCA1 mutations: a deletion of exons 1A, 1B and 2, and a deletion of exons 17-19, both present in single families. We conclude that the Polish population has a diverse mutation spectrum influenced by strong founder effects. However, families with strong breast/ovarian cancer history who are negative for these common mutations should be offered a complete BRCA gene screening, including MLPA analysis.},
  author       = {Ratajska, Magdalena and Brozek, Izabela and Senkus-Konefka, Elzbieta and Jassem, Jacek and Stepnowska, Magdalena and Palomba, Grazia and Pisano, Marina and Casula, Milena and Palmieri, Giuseppe and Borg, Åke and Limon, Janusz},
  issn         = {1791-2431},
  language     = {eng},
  number       = {1},
  pages        = {263--268},
  publisher    = {D.A. Spandidos},
  series       = {Oncology Reports},
  title        = {BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland},
  volume       = {19},
  year         = {2008},
}