Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

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Analysis of the role of BARD1 gene in genetic predisposition to breast cancer - utilization of unique strategy of association analysis of founder mutations

2015/17/B/NZ2/01182

Keywords:

BARD1

Descriptors:

  • NZ2_11: Genetic epidemiology
  • NZ2_1: Molecular genetics
  • NZ5_5: Diagnostics in human diseases

Panel:

NZ2 - Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology

Host institution :

Instytut Chemii Bioorganicznej PAN

woj. wielkopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

prof. Piotr Kozłowski 

Number of co-investigators in the project: 4

Call: OPUS 9 - announced on 2015-03-16

Amount awarded: 1 373 000 PLN

Project start date (Y-m-d): 2016-03-01

Project end date (Y-m-d): 2021-08-31

Project duration:: 66 months (the same as in the proposal)

Project status: Project settled

Project description

Download the project description in a pdf file

Note - project descriptions were prepared by the authors of the applications themselves and placed in the system in an unchanged form.

Equipment purchased [PL]

  1. Licencja Coreldraw 2 sztuki.
  2. Oprogramowanie MedCalc.
  3. zestaw komputerowy wraz z oprogramowaniem (2 szt.) (6 000 PLN)
  4. Licencja na oprogramowanie EndNote 2 sztuki.
  5. zestaw do elektroforezy agarozowej (5 000 PLN)
  6. Termocykler.
  7. zestaw komputerowy.

Information in the final report

  • Publication in academic press/journals (7)
  • Articles in post-conference publications (1)
  1. Variant identification in BARD1, PRDM9, RCC1, and RECQL in patients with ovarian cancer by targeted next-generation sequencing of DNA pools
    Authors:
    Suszynska M, Ratajska M, Galka-Marciniak P, Ryszkowska A, Wydra D, Debniak J, Jasiak A, Wasag B, Cybulski C, Kozlowski P
    Academic press:
    Cancer Prevention Research (rok: 2022, tom: 15, strony: 45301), Wydawca: American Association for Cancer Research (AACR)
    Status:
    Published
    DOI:
    10.1158/1940-6207.CAPR-21-0295 - link to the publication
  2. BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation
    Authors:
    Malwina Suszynska, W. Kluzniak, D. Wokolorczyk, A. Jakubowska, T. Huzarski, J. Gronwald, T. Debniak, M. Szwiec, M. Ratajska, K. Klonowska, S. Narod, N. Bogdanova, T. Dörk, J. Lubinski, C. Cybulski, Piotr Kozłowski
    Academic press:
    Cancers (rok: 2019, tom: 11, strony: 740), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/cancers11060740 - link to the publication
  3. BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases
    Authors:
    Malwina Suszyńska, Magdalena Ratajska, Piotr Kozłowski
    Academic press:
    Journal of Ovarian Research (rok: 2020, tom: 13, strony: 50), Wydawca: BMC
    Status:
    Published
    DOI:
    10.1186/s13048-020-00654-3 - link to the publication
  4. MTTE: an innovative strategy for the evaluation of targeted/exome enrichment efficiency
    Authors:
    Klonowska K, Handschuh L, Swiercz A, Figlerowicz M, Kozlowski P
    Academic press:
    Oncotarget (rok: 2016, tom: 7(41), strony: 67266-67276), Wydawca: Impact Journals, LLC
    Status:
    Published
    DOI:
    10.18632/oncotarget.11646 - link to the publication
  5. The 30 kb deletion in the APOBEC3 cluster decreases APOBEC3A and APOBEC3B expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population
    Authors:
    Klonowska K, Kluzniak W, Rusak B, Jakubowska A, Ratajska M, Krawczynska N, Vasilevska D, Czubak K, Wojciechowska M, Cybulski C, Lubinski J, Kozlowski P
    Academic press:
    Oncotarget (rok: 2017, tom: 8 (44), strony: 76357-76374), Wydawca: Impact Journals, LLC
    Status:
    Published
    DOI:
    10.18632/oncotarget.19400 - link to the publication
  6. Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes
    Authors:
    Malwina Suszyńska , Katarzyna Klonowska, Anna Jasińska, Piotr Kozłowski
    Academic press:
    Gynecologic Oncology (rok: 2019, tom: 153, strony: 452-462), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.ygyno.2019.01.027 - link to the publication
  7. Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations
    Authors:
    Malwina Suszyńska, Piotr Kozłowski
    Academic press:
    Genes (rok: 2020, tom: 11, strony: 798), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/genes11070798 - link to the publication
  1. Association between mutations in genes from NGS multi-gene panels and breast and ovarian cancer risk.
    Authors:
    Suszynska M, Klonowska K, Kozlowski P
    Conference:
    The Annual Conference Clinical Genetics of Cancer 2018 (rok: 2019, ), Wydawca: BMC
    Data:
    konferencja 11-12.10.2018
    Status:
    Published

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