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Cancer Research|February 13, 2020
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12Laëtitia Meulemans, Romy L S Mesman, Sandrine M Caputo, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|February 24, 2025
Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor PredispositionPeter N Fiorica, Lisa Golmard, Jung Kim, et al.International Journal of Cancer|June 12, 2025
Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratoriesEdwige Kasper, Flavie Boulouard, Noémie Basset, et al.Nature Communications|September 23, 2021
A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expressionJing Liu, Daniela Ottaviani, Meriem Sefta, et al.Cancers|August 7, 2021
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel TestingFabienne Lesueur, Séverine Eon-Marchais, Sarah Bonnet-Boissinot, et al.Gut|September 25, 2025
Hereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controlsSilvana Lobo, Alexandre Dias, Ana Maria Pedro, et al.European Journal of Cancer (Oxford, England : 1990)|December 12, 2022
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the diseaseYue Jiao, Thérèse Truong, Séverine Eon-Marchais, et al.Journal of the National Cancer Institute|February 29, 2020
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51DXin Yang, Honglin Song, Goska Leslie, et al.The Lancet. Oncology|November 27, 2022
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk SyndromesJosé Garcia-Pelaez, Rita Barbosa-Matos, Silvana Lobo, et al.Journal of the National Cancer Institute|December 6, 2018
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families WorldwideSebastian Walpole, Antonia L Pritchard, Colleen M Cebulla, et al.Pageof 8