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DONDON , Marie-Gabrielle

Last name: DONDON

First name: Marie-Gabrielle

2021 (v1)

Journal article

Metadata-only

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

Lesueur, Fabienne Eon-Marchais, Séverine Bonnet-Boissinot, Sarah

Assessment of age-dependent cancer risk for carriers of a predicted pathogenic variant (PPV) is often hampered by biases in data collection, with a frequent under-representation of cancer-free PPV carriers. TUMOSPEC was designed to estimate the cumulative risk of cancer for carriers of a PPV in a gene that is usually tested in a hereditary...

Uploaded on: December 4, 2022
December 2016 (v1)

Journal article

Metadata-only

GENESIS: a French national resource to study the missing heritability of breast cancer

Sinilnikova, Olga M Dondon, Marie-Gabrielle Eon-Marchais, Séverine

Background: Less than 20 % of familial breast cancer patients who undergo genetic testing for BRCA1 and BRCA2 carry a pathogenic mutation in one of these two genes. The GENESIS (GENE SISter) study was designed to identify new breast cancer susceptibility genes in women attending cancer genetics clinics and with no BRCA1/2 mutation. Methods: The...

Uploaded on: February 28, 2023