Rosario Ferrer‐Avargues
A5037135482- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- RNA modifications and cancer
- Ocular Disorders and Treatments
- Colorectal Cancer Treatments and Studies
- Cancer Genomics and Diagnostics
- RNA regulation and disease
- Colorectal Cancer Screening and Detection
- Congenital Ear and Nasal Anomalies
- Genomics and Rare Diseases
Sistemas Genómicos
2023
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana
2021
Hospital General Universitario de Elche
2017
Abstract Background Lynch syndrome (LS) is a hereditary condition characterized by high risk of colorectal cancer, endometrial and other neoplasia associated with germline alterations in DNA mismatch repair genes. The classical genetic diagnostic strategy for LS consists the Sanger sequencing genes suspected syndrome. Next‐generation (NGS) enables simultaneous large number cancer Here, we aimed to study whether pathogenic variants are present patients LS. Methods A cohort 84 probands...
Zhu-Tokita-Takenouchi-Kim syndrome is a multisystem disorder resulting from haploinsufficiency in the SON gene, which characterized by developmental delay/intellectual disability, seizures, facial dysmorphism, short stature, and congenital malformations, primarily central nervous system, along with ophthalmic, dental, pulmonary, cardiologic, renal, gastrointestinal, musculoskeletal anomalies. In this study, we describe first Colombian patient ZTT harboring novel mutation that has not been...
Abstract Background We identified a new and recurrent POLD1 mutation associated with predisposition to colorectal cancer (CRC). characterized the molecular clinical nature of potential founder in families from Valencia (Spain). Methods Clinical data were collected four independent known have Leu474Pro mutation. To establish its effect, haplotype construction was performed using 14 flanking polymorphic markers. calculated penetrance estimates expressivity, globally stratified by age sex....