A5101612658- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Acute Myeloid Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Genomics and Rare Diseases
- PARP inhibition in cancer therapy
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- RNA Research and Splicing
- Family Support in Illness
- CRISPR and Genetic Engineering
- Chronic Myeloid Leukemia Treatments
- Nutrition, Genetics, and Disease
- Viral-associated cancers and disorders
- Folate and B Vitamins Research
- Childhood Cancer Survivors' Quality of Life
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Cystic Fibrosis Research Advances
- COVID-19 and healthcare impacts
- Iron Metabolism and Disorders
- Ovarian cancer diagnosis and treatment
- RNA and protein synthesis mechanisms
- Genomic variations and chromosomal abnormalities
- Hematological disorders and diagnostics
- Cancer-related Molecular Pathways
Vall d'Hebron Institute of Oncology
2019-2025
Vall d'Hebron Hospital Universitari
2019-2025
Universitat Autònoma de Barcelona
2021
Spanish Ovarian Cancer Research Group
2018
Importance RAD51C and RAD51D are involved in DNA repair by homologous recombination. Germline pathogenic variants (PVs) these genes associated with an increased risk of ovarian breast cancer. Understanding the recombination deficiency (HRD) status tumors from patients germline PVs RAD51C/D could guide therapeutic decision-making improve survival. Objective To characterize clinical tumor characteristics PV carriers, including evaluation HRD status. Design, Setting, Participants This...
Estimating breast cancer risk involves quantifying genetic and non-genetic factors. This supports health interventions communication to ensure adherence screening recommendations. study evaluated the change in estimation when incorporating density polygenic score (PRS) into baseline assessment compared efficacy of two risk-assessment delivery models. two-step included 663 healthy women with a family history which no pathogenic variants were identified. First, PRS added for all participants....
Only a small fraction of hereditary breast and/or ovarian cancer (HBOC) cases are caused by germline variants in the high-penetrance 1 and 2 genes (BRCA1 BRCA2). BRCA1-associated ring domain (BARD1), nuclear partner BRCA1, has been suggested as potential HBOC risk gene, although its prevalence penetrance variable according to populations type tumor. We aimed investigate BARD1 truncating cohort patients with clinical suspicion HBOC. A comprehensive screening multigene panel analysis was...
BRCA1 and BRCA2 (BRCA1/2) genetic variants that disrupt messenger RNA splicing are commonly associated with increased risks of developing breast/ovarian cancer. The majority studies published to date rely on qualitative methodologies (i.e., Sanger sequencing), but it is necessary incorporate semi-quantitative or quantitative approaches accurately interpret the clinical significance spliceogenic variants. Here, we characterize impact 31 BRCA1/2 using capillary electrophoresis fluorescent...
Homologous recombination proficiency in patients with breast cancer despite germline PALB2/RAD51C pathogenic variants.
Exome sequencing may identify pathogenic variants unrelated with the purpose of analysis. We investigated frequency secondary and incidental findings (SF/IF) in cancer susceptibility genes (CSG), their clinical actionability psychological impact individuals an SF/IF (cases) compared tested due to history (controls).This study analysed 533 exomes ordered for non-cancer conditions. Medical records were reviewed SF/IF. Psychological was using Multidimensional Impact Cancer Risk Assessment...
Abstract Clinical and familial factors predict psychological distress after genetic testing for cancer susceptibility. However, the contribution of an individual's background to such is unclear. This study aims analyze impact identify profile individuals at higher risk. a longitudinal multicenter undergoing Demographic, clinical, genetic, familial, (personality types, worry) characteristics were assessed by validated questionnaires day testing. Distress, uncertainty, positive experience...
Triple-negative breast cancer is the most aggressive subtype of mammary carcinoma. In early stage, neoadjuvant chemotherapy (NAC) standard care for prognostic stratification and best adjuvant treatment strategy. A 30-year-old female presented in emergency room because a gigantic right associated with an ulcerated lump at upper quadrants. The axillary nodes were palpable. An ultrasound was performed, showing neoformation enlarged lymph observed to level III. core biopsy lesion pathological...
Summary Patients aged 50 or above diagnosed with myeloid neoplasms (MNs) are typically not candidates for germline testing. However, approximately 8% carry pathogenic variants. Allogeneic haematopoietic stem cell transplantation (alloHSCT) remains an option those over 50; neglecting testing could mask the risk relative donor cell‐derived MN. We propose a germline‐augmented somatic panel (GASP), combining MN predisposition genes timely variant identification when initial is indicated. Out of...
To know the risk of endometrial cancer (EC) in a population women with BRCA 1/2 pathogenic or likely variants after risk-reducing salpingo-oophorectomy (RRSO). The study cohort included data from 857 mutations who underwent RRSO visited four hospitals Catalonia, Spain, January 1, 1999 to April 30, 2019. Standardized incidence ratio (SIR) EC was calculated these patients using regional population-based registry. After RRSO, eight cases were identified. Four 1 carriers and BRCA2 carriers....