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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.

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

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

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 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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