Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 1, p. 166, doi. 10.1111/cge.13864
- By:
- Publication type:
- Article
Works by Ponelle‐Chachuat, Flora
Results: 12
1
2
Identification of new candidate genes for the hereditary predisposition to uveal melanoma: IGCMU trial.
- Published in:
- Frontiers in Oncology, 2025, p. 1, doi. 10.3389/fonc.2025.1538924
- By:
- Publication type:
- Article
3
Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
4
Recurrence biomarkers of triple negative breast cancer treated with neoadjuvant chemotherapy and anti-EGFR antibodies.
- Published in:
- NPJ Breast Cancer, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41523-021-00334-5
- By:
- Publication type:
- Article
5
Physiological TLR4 regulation in human fetal membranes as an explicative mechanism of a pathological preterm case.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.71521
- By:
- Publication type:
- Article
6
Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition.
- Published in:
- Genes, Chromosomes & Cancer, 2021, v. 60, n. 2, p. 73, doi. 10.1002/gcc.22911
- By:
- Publication type:
- Article
7
Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer.
- Published in:
- Genes, 2023, v. 14, n. 11, p. 1991, doi. 10.3390/genes14111991
- By:
- Publication type:
- Article
8
Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature.
- Published in:
- Genes, 2023, v. 14, n. 9, p. 1677, doi. 10.3390/genes14091677
- By:
- Publication type:
- Article
9
RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/4830045
- By:
- Publication type:
- Article
10
Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation.
- Published in:
- Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.70086
- By:
- Publication type:
- Article
11
Rare duplication of the CDC73 gene and atypical hyperparathyroidism‐jaw tumor syndrome: A case report and review of the literature.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
12
Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing.
- Published in:
- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00353
- By:
- Publication type:
- Article