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FBC predisposition SIGNED

Unraveling novel Familial Breast Cancer (FBC) predisposition genes.

Total Cost €

0

EC-Contrib. €

0

Partnership

0

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 FBC predisposition project word cloud

Explore the words cloud of the FBC predisposition project. It provides you a very rough idea of what is the project "FBC predisposition" about.

underlying    disease    lt    groups    women    hits    elucidation    therapeutically    clinical    network    unbiased    firm    ground    worldwide    35    screen    host    offers    135    poly    fbc    performing    preliminary    patients    elucidate    predisposition    sensitivity    molecular    age    remaining    screens    parpi    hypothesize    international    mass    gene    individuals    proteins    64    ed    elucidating    breakthroughs    counsel    synthetic    genes    defects    interventions    ribose    cancer    throughput    genetically    variant    susceptibility    function    spectrometry    unraveling    monitor    provides    elevated    inherent    danish    candidate    form    risk    markedly    cancers    exome    repair    variants    data    sequencing    dna    anticipate    genome    15    lab    maintenance    enrolled    deficiencies    basis    benefit    familial    lethality    tools    adp    ranking    onset    phenotypic    breast    follow    inhibitors    identification    genetic    interactors    unexplained    cohort    surveillance    association    polymerase    270    performed   

Project "FBC predisposition" data sheet

The following table provides information about the project.

Coordinator
KOBENHAVNS UNIVERSITET 

Organization address
address: NORREGADE 10
city: KOBENHAVN
postcode: 1165
website: www.ku.dk

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country Denmark [DK]
 Total cost 219˙312 €
 EC max contribution 219˙312 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2019
 Funding Scheme MSCA-IF-EF-ST
 Starting year 2020
 Duration (year-month-day) from 2020-05-01   to  2022-04-30

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    KOBENHAVNS UNIVERSITET DK (KOBENHAVN) coordinator 219˙312.00

Map

 Project objective

Breast cancer is the most common cancer in women worldwide. Familial breast cancer (FBC) is expected to account for up to 15% of breast cancers. Although recent breakthroughs have resulted in the identification of distinct new groups of genetically inherent breast cancer genes, about 64% of the genetic predisposition to FBC remains unexplained. Therefore, new approaches are required to identify remaining genetic factors underlying FBC susceptibility. This is crucial because the elucidation of inherent cancer defects offers the ability to counsel and monitor patients. Importantly, it also provides firm ground for therapeutically targeting particular cancer pathways for example through Poly ADP-ribose polymerase inhibitors (PARPi) that exploit synthetic lethality with particular DNA repair deficiencies. To advance the field, my host lab has performed High-Throughput phenotypic screen, based on gene variants recognized in a FBC cohort of 135 early-onset (age <35 years) breast cancer patients through whole exome sequencing. The 270 new genes with potential disease association were enrolled in screens, focusing on genome maintenance and PARPi sensitivity. These unique preliminary data form the basis for my project. I hypothesize that by performing following specific analyses I will be able to elucidate new FBC predisposition genes: •Ranking of screen hits by performing FBC-associated variant analysis in an international and Danish FBC cohort. •Elucidating molecular function of novel FBC predisposition genes in genome maintenance. •Unraveling the molecular network of candidate proteins by unbiased Mass-spectrometry as well as follow-up analysis of interactors. I anticipate that my work will provide novel FBC predisposition genes, which will markedly contribute to clinical risk assessment tools (such as targeted sequencing) by ensuring identification of individuals at elevated risk who benefit from advances in surveillance and targeted interventions.

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