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I'm a biologist working in molecular mechanims of human diseases, such as cancer. Precision medicine is present and will be here forever, to make our lifes longer and better.


Early Diagnosis of Oral Cancer and Lesions in Fanconi AnemiaPatients: A Prospective and Longitudinal Study Using Saliva and Plasma.

Cancers 2023, 15, 1871.

Patients with Fanconi anemia (FA) have a very high risk of developing oral lesions and squamous carcinomas at early ages. As treatment strategies in this setting are very limited, new early diagnosis methods are urgently needed. We performed a pilot, prospective clinical study in which saliva and plasma samples were analyzed with the deep sequencing of cancer genes. The patients included had apparently normal oral mucosa when recruited. Mutations were detected in
the liquid biopsies with allele frequencies of down to 0.07%. We found that patients with mutations displayed a higher risk of developing lesions/carcinomas after mutation detection. We propose that this non-invasive, highly sensitive technology could allow for the better management of these pathologies in FA individuals.

Fanconi anemia-isogenic head and neck cancer cell line pairs - a basic and translational science resource

International Journal of Cancer 2023 Mar 13. Online ahead of print.

Fanconi anemia (FA) is a heritable malformation, bone marrow failure and cancer predisposition syndrome that confers an exceptionally high risk of squamous carcinomas. These carcinomas originate in epithelia lining the mouth, proximal esophagus, vulva and anus: their origins are not understood, and no effective ways have been identified to prevent or delay their appearance. Many FA-associated carcinomas are also therapeutically challenging: they may be multi-focal and stage-advanced at diagnosis, and most individuals with FA cannot tolerate standard-of-care systemic therapies such as DNA cross-linking drugs or ionizing radiation due to constitutional DNA damage hypersensitivity.

We developed the Fanconi Anemia Cancer Cell Line Resource (FA-CCLR) to foster new work on the origins, treatment and prevention of FA-associated carcinomas. The FA-CCLR consists of Fanconi-isogenic head and neck squamous cell carcinoma (HNSCC) cell line pairs generated from 5 individuals with FA-associated HNSCC, and 5 individuals with sporadic HNSCC. Sporadic, isogenic HNSCC cell line pairs were generated in parallel with FA patient-derived isogenic cell line pairs to provide comparable experimental material to use to identify cell and molecular phenotypes driven by germline or somatic loss of Fanconi pathway function, and the subset of these FA-dependent phenotypes that can be modified, complemented or suppressed. All ten FANC-isogenic cell line pairs are available to academic, non-profit and industry investigators via the ‘Fanconi Anemia Research Materials’ Resource and Repository at Oregon Health & Sciences University, Portland OR.

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