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Izabela Brozek
Researcher at Gdańsk Medical University
Publications - 34
Citations - 1049
Izabela Brozek is an academic researcher from Gdańsk Medical University. The author has contributed to research in topics: Germline mutation & Ovarian cancer. The author has an hindex of 18, co-authored 34 publications receiving 972 citations.
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Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor.
Dirk Prawitt,Thorsten Enklaar,Barbara Gärtner-Rupprecht,Christian Spangenberg,Monika Oswald,Ekkehart Lausch,Peter Schmidtke,Dirk Reutzel,Stephan Fees,Robert Lucito,Maria Korzon,Izabela Brozek,Janusz Limon,David E. Housman,Jerry Pelletier,Bernhard Zabel +15 more
TL;DR: The results suggest that the combined effects of the H19/IGF2-imprinting center microdeletion and 11p15 chromosome duplication were necessary for manifestation of Beckwith-Wiedemann syndrome.
Journal ArticleDOI
Cancer predisposing BARD1 mutations in breast–ovarian cancer families
Magdalena Ratajska,Ewelina Antoszewska,Anna M. Piskorz,Izabela Brozek,Åke Borg,Hanna Kusmierek,Wojciech Biernat,Janusz Limon +7 more
TL;DR: The findings suggest that BARD1 mutations may be regarded as cancer risk alleles and warrant further investigation to determine their actual contribution to non-BRCA1/2 breast and ovarian cancer families.
Journal ArticleDOI
Hereditary ovarian cancer in Poland.
Janusz Menkiszak,Jacek Gronwald,Bohdan Górski,Anna Jakubowska,Tomasz Huzarski,Tomasz Byrski,Małgorzata Foszczyńska-Kłoda,Olga Haus,Hanna Janiszewska,Magdalena Perkowska,Izabela Brozek,Ewa Grzybowska,Helena Zientek,Stanisław Góźdź,Beata Kozak-Klonowska,K. Urbański,Roman Miturski,Jerzy Kowalczyk,Anna Plużańska,S Niepsuj,Jan Koc,Marek Szwiec,Kazimierz Drosik,Andrzej Mackiewicz,Katarzyna Lamperska,Elwira Stróżyk,Dariusz Godlewski,Małgorzata Stawicka,Bernard Waśko,Marek Bębenek,Andrzej Rozmiarek,Izabella Rzepka-Górska,Steven A. Narod,Jan Lubinski +33 more
TL;DR: The high frequency of BRCA1 mutations in Polish women with ovarian cancer supports the recommendation that all Polish womenwith ovarian cancer should be offered testing for genetic susceptibility, and that counseling services be made available to them and to their relatives.
Journal ArticleDOI
Frontometaphyseal dysplasia : Mutations in FLNA and phenotypic diversity
Stephen P. Robertson,Zandra A. Jenkins,Timothy R. Morgan,Lesley C. Adès,Lesley C. Adès,Salim Aftimos,Odile Boute,Torunn Fiskerstrand,Sixto García-Miñaur,Arthur Grix,Andrew Green,Vazken M. Der Kaloustian,Ray Lewkonia,Brenda McInnes,Mieke M. van Haelst,Grazia Macini,Tamás Illés,Geert Mortier,Ruth Newbury-Ecob,Linda Nicholson,Charles I. Scott,Karolina Ochman,Izabela Brozek,Deborah J. Shears,Andrea Superti-Furga,Mohnish Suri,Margo L. Whiteford,Andrew O.M. Wilkie,Deborah Krakow +28 more
TL;DR: In this article, a comprehensive screening of the FLNA gene in a group of 23 unrelated probands (11 familial instances, 12 simplex cases; total affected individuals 32) with frontometaphyseal dysplasia is reported.
Journal ArticleDOI
BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland.
Magdalena Ratajska,Izabela Brozek,Elżbieta Senkus-Konefka,Jacek Jassem,Magdalena Stepnowska,Grazia Palomba,Marina Pisano,Milena Casula,Giuseppe Palmieri,Åke Borg,Janusz Limon +10 more
TL;DR: 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.