Publications by authors named "Susana Garcia Linares"
The aim of this study was to assess the prevalence of germline variants in cancer-predisposing genes by either targeted (BRCA1/2) or multigene NGS panel in a high-risk Hereditary Breast and Ovarian Cancer (HBOC) cohort. Samples from 824 Caucasian probands were retrospectively collected and the impact of genetic diagnosis and genetic variants epidemiology in this cohort was evaluated. Performance of risk-reducing prophylactic measures, such as prophylactic mastectomy and/or prophylactic oophorectomy, was assessed through clinical follow-up of patients with a positive genetic result.
View Article and Find Full Text PDFArticle Synopsis
- - Clinical exome sequencing helps tackle the diverse range of clinical and genetic variations seen in mucopolysaccharidosis (MPS).
- - The information gained from this sequencing can assist in prenatal diagnosis for MPS VII, a specific type of MPS.
- - It also supports genetic counseling and preimplantation genetic testing for families affected by MPS.
Objective: To demonstrate that the variant not described in PKD1 gene c.7292T> A, identified in four families from the Alpujarra in Granada, is the cause of autosomal dominant polycystic kidney disease (ADPKD). This variant consists of a transversion of thymine (T) by adenine (A) that at the level of the Polycystin 1 protein produces a change of leucine (Leu / L) by Glutamine (Gln / Q) in position 2431 (p.
View Article and Find Full Text PDFStudy of Human Leukocyte Antigen (HLA) in 13 cases of familial frontal fibrosing alopecia: CYP21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA-A*33:01; B*14:02; C*08:02 as a genetic marker.
Australas J Dermatol
August 2019
Article Synopsis
- The study investigates the genetic factors associated with familial frontal fibrosing alopecia, a type of hair loss with an unknown cause.
- Researchers compared the human leukocyte antigen profiles of 13 affected patients from six families to those of 636 healthy individuals, looking specifically for genetic mutations.
- Results indicated a significant link between the CYP21A2 gene mutation and certain HLA haplotypes, suggesting that this mutation could serve as a genetic marker for susceptibility to this condition and highlighting the role of antigen-driven mechanisms in affected individuals.