Associated Papers
Endometrioid ovarian carcinoma landscape: pathological and molecular characterization.
de Nonneville A et al.
Molecular Oncology, 2024
38923749 (PubMed )
Supplement: MOL2-18-2586-s001.zip › mol213679-sup-0010-TableS7.xlsx › SupTable7
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Meijer TG et al.
Cancers, 2024
38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1
An acquired BMF with FANCL gene heterozygous mutation: Case report.
Zhang N et al.
Medicine, 2023
Genomic and transcriptomic analyses identify a prognostic gene signature and predict response to therapy in pleural and peritoneal mesothelioma.
Nair NU et al.
Cell Reports. Medicine, 2023
36773602 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
Poliani L et al.
Esmo Open, 2022
Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.
Paixão D et al.
Frontiers in Oncology, 2022
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.
Maung KZY et al.
Blood Cancer Journal, 2018
29891941 (PubMed )
Supplement: 41408_2018_90_MOESM2_ESM.xlsx › Supplementary_Table_S2
Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.
Guidugli L et al.
Leukemia, 2017
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
Vetro A et al.
Human Mutation, 2015
FANCD2, FANCJ and BRCA2 cooperate to promote replication fork recovery independently of the Fanconi Anemia core complex.
Raghunandan M et al.
Cell Cycle (georgetown, Tex.), 2015
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
Chandrasekharappa SC et al.
Blood, 2013
Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.
Kim Y et al.
Blood, 2013
23093618 (PubMed )
Supplement: blood-2012-07-441212-1.pdf
Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.
Ali AM et al.
Human Mutation, 2009
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