Literature DB >> 11139251

Prevalence of BRCA1 founder mutations in western Poland.

A Jasinska1, W J Krzyzosiak.   

Abstract

The frequency of three BRCA1 founder mutations was examined in a group of Polish breast/ovarian cancer patients and women at increased risk of these cancers based on family history. Among the 15 mutations found (5385-5386insC, 187-188delAG, and 4154delA), eight were detected in women with a low or moderate family history. The frequency of the IVS20+48ins12 variant was also analyzed and its distribution within risk groups argues against its involvement in cancer predisposition. Copyright 2001 Wiley-Liss, Inc.

Entities:  

Mesh：

Year:  2001        PMID： 11139251     DOI： 10.1002/1098-1004(2001)17:1<75::AID-HUMU15>3.0.CO;2-9

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


  11 in total

1.  Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection.

Authors:  P Kozlowski; W J Krzyzosiak
Journal:  Nucleic Acids Res       Date:  2001-07-15       Impact factor: 16.971

2.  RNA structure analysis assisted by capillary electrophoresis.

Authors:  Krzysztof Sobczak; Wlodzimierz J Krzyzosiak
Journal:  Nucleic Acids Res       Date:  2002-11-15       Impact factor: 16.971

3.  On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.

Authors:  Nancy Hamel; Bing-Jian Feng; Lenka Foretova; Dominique Stoppa-Lyonnet; Steven A Narod; Evgeny Imyanitov; Olga Sinilnikova; Laima Tihomirova; Jan Lubinski; Jacek Gronwald; Bohdan Gorski; Thomas v O Hansen; Finn C Nielsen; Mads Thomassen; Drakoulis Yannoukakos; Irene Konstantopoulou; Vladimir Zajac; Sona Ciernikova; Fergus J Couch; Celia M T Greenwood; David E Goldgar; William D Foulkes
Journal:  Eur J Hum Genet       Date:  2010-12-01       Impact factor: 4.246

4.  High prevalence of two BRCA1 mutations, 4154delA and 5382insC, in Latvia.

Authors:  Laima Tikhomirova; Olga Sinicka; Dagnija Smite; Janis Eglitis; Shirley V Hodgson; Aivars Stengrevics
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

5.  BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia.

Authors:  Kristiina Tamboom; Krista Kaasik; Jelena Aršavskaja; Mare Tekkel; Aili Lilleorg; Peeter Padrik; Andres Metspalu; Toomas Veidebaum
Journal:  Hered Cancer Clin Pract       Date:  2010-04-09       Impact factor: 2.857

6.  Limited significance of family history for presence of BRCA1 gene mutation in Polish breast and ovarian cancer cases.

Authors:  Izabela Brozek; Magdalena Ratajska; Magdalena Piatkowska; Anna Kluska; Aneta Balabas; Michalina Dabrowska; Dorota Nowakowska; Anna Niwinska; Jadwiga Rachtan; Jan Steffen; Janusz Limon
Journal:  Fam Cancer       Date:  2012-09       Impact factor: 2.375

7.  Prevalence of the most frequent BRCA1 mutations in Polish population.

Authors:  Izabela Brozek; Celina Cybulska; Magdalena Ratajska; Magdalena Piatkowska; Anna Kluska; Aneta Balabas; Michalina Dabrowska; Dorota Nowakowska; Anna Niwinska; Jolanta Pamula-Pilat; Karolina Tecza; Wioletta Pekala; Jolanta Rembowska; Karina Nowicka; Maria Mosor; Danuta Januszkiewicz-Lewandowska; Jadwiga Rachtan; Ewa Grzybowska; Jerzy Nowak; Jan Steffen; Janusz Limon
Journal:  J Appl Genet       Date:  2011-04-19       Impact factor: 3.240

8.  Selected Aspects of Molecular Diagnostics of Constitutional Alterations in BRCA1 and BRCA2 Genes Associated with Increased Risk of Breast Cancer in the Polish Population.

Authors:  Bohdan Górski
Journal:  Hered Cancer Clin Pract       Date:  2006-08-15       Impact factor: 2.857

9.  Selected aspects of genetic counselling for BRCA1 mutation carriers.

Authors:  Jacek Gronwald
Journal:  Hered Cancer Clin Pract       Date:  2007-03-15       Impact factor: 2.857

10.  Prevalence of the BRCA1 c.68_69delAG (BIC: 185delAG) mutation in women with breast cancer from north-central Poland and a review of the literature on other regions of the country.

Authors:  Martyna Hartwig; Hanna Janiszewska; Aneta Bąk; Maria Pilarska; Marta Heise; Anna Junkiert-Czarnecka; Ryszard Laskowski; Olga Haus
Journal:  Contemp Oncol (Pozn)       Date:  2013-03-15
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.