Clémentine Legrand

发表

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

W. Chung, D. Steinemann, F. Couch, 2022, Communications Biology.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

F. Révillion, R. Lidereau, N. Sevenet, 2021, American journal of human genetics.

AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer

J. Saurin, A. Hovnanian, B. Fournier, 2022, Genes, chromosomes & cancer.

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

R. Eeles, J. Hopper, D. Easton, 2021, American journal of obstetrics and gynecology.

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

W. Chung, F. Couch, O. Olopade, 2021, Genetics in Medicine.

Transformation of a low-grade follicular lymphoma into a composite lymphoma combining a high-grade B-cell lymphoma and a lymphoblastic neoplasm expressing Terminal deoxynucleotidyl Transferase: a case report

R. Gressin, H. Sartelet, M. Peuchmaur, 2020, Journal of Medical Case Reports.

A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking lynch syndrome.

F. Prieur, N. Hamzaoui, F. Desseigne, 2021, European journal of medical genetics.

From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 gene

E. Ruano, C. Lefol, J. Kourda, 2023, Molecular genetics & genomic medicine.

A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome

E. Ruano, C. Lefol, Pierre Naibo, 2022, Familial Cancer.

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Jane E. Carpenter, W. Chung, M. Beckmann, 2019, npj Breast Cancer.