A5024110947- BRCA gene mutations in cancer
- Colorectal Cancer Treatments and Studies
- Genetic factors in colorectal cancer
- Gastric Cancer Management and Outcomes
- Cancer Treatment and Pharmacology
- Cancer Genomics and Diagnostics
- Economic and Financial Impacts of Cancer
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- Lung Cancer Treatments and Mutations
- PARP inhibition in cancer therapy
- Cancer-related Molecular Pathways
- Multiple and Secondary Primary Cancers
- Nutrition, Genetics, and Disease
- Colorectal Cancer Screening and Detection
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Ovarian cancer diagnosis and treatment
- Cancer, Lipids, and Metabolism
- Colorectal Cancer Surgical Treatments
- Inflammatory Biomarkers in Disease Prognosis
- Cancer Diagnosis and Treatment
- Delphi Technique in Research
- HER2/EGFR in Cancer Research
- Breast Cancer Treatment Studies
- Cancer and Skin Lesions
Instituto de Investigación Biomédica de A Coruña
2020-2025
Complejo Hospitalario de Pontevedra
2025
Universidade da Coruña
2016-2024
Servicio Gallego de Salud
2012-2023
Complexo Hospitalario Universitario A Coruña
2015-2023
Università Cattolica del Sacro Cuore
2018
European Institute of Oncology
2018
Albert Einstein College of Medicine
2018
Vall d'Hebron Hospital Universitari
2011-2014
Vall d'Hebron Institute of Oncology
2011-2014
Approximately, 7 % of all breast cancers (BC) and 11–15 ovarian (OC) are associated with inherited predisposition, mainly related to germline mutations in high penetrance BRCA1/2 genes. Clinical criteria for genetic testing based on personal family history estimate a minimum 10 detection rate. Selection evolving according new advances this field the clinical utility testing. Multiplex panel carries its own challenges we recommend inclusion genes utility. We screening annual mammography from...
Purpose There is a growing demand for BRCA1/ 2 mutation ( BRCAm) testing in patients with ovarian cancer; however, the limited number of genetic counselors presents potential barrier. To facilitate more widespread BRCAm cancer, pretest counseling by oncology team could shorten turnaround times and ease pressure on counselors. Patients Methods The prospective, observational Evaluating Streamlined Onco-genetic BRCA Testing Counseling Model Among With Ovarian Cancer (ENGAGE) study evaluated...
Abstract Purpose: It is not clear that the published estimates of breast and ovarian cancer penetrances mutations in BRCA1 BRCA2 can be used genetic counseling countries such as Spain, where incidence general population considerably lower, prevalence seems to higher, a distinct spectrum recurrent exists for both genes. We aimed estimate these women attending units Spain. Experimental Design: collected phenotype genotype data on 155 164 mutation carrier families from 12 centers across...
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...
Mutations in breast cancer BRCA1/2 genes increase and ovarian risk are transmitted with an autosomal dominant pattern. Opinion about reproductive decisions among individuals undergoing testing our institutions is unknown.Individuals (n = 77) were included a prospective multicentre study to assess the clinical impact of genetic testing. Demographic information, psychological status opinion collected two questionnaires administered prior regarding use assisted reproduction techniques for...
Background The PALB2 gene, also known as FANCN, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations have been identified approximately 1% of familial breast cancer 3–4% pancreatic cancer. goal this study was to determine the prevalence population BRCA1/BRCA2 negative patients selected from either personal or family history Methods 132 non-BRCA1/BRCA2 breast/ovarian families at least one case were included study. mutational analysis performed by direct sequencing all...
Abstract Background Familial adenomatous polyposis (FAP) is an autosomal dominant-inherited colorectal cancer syndrome, caused by germline mutations in the APC gene. Recently, biallelic MUTYH have also been identified patients with multiple adenomas and -negative FAP. The aim of this work therefore to determine frequency among FAP families from two Spanish populations. Methods Eighty-two unrelated classical or attenuated were screened for mutations. analysis was then conducted those 9...
Genetic testing for breast cancer predisposition has been available in the clinical practice more than a decade. How result of genetic affects psychological well-being individuals is an under-researched area many populations. Follow-up analysis via HADS scale was performed 364 at 3 months and 1 year after disclosure BRCA1/2 result. We analyzed potential predictors pathological anxiety variables associated to variation scores over time. At pre-test only 16% 4% presented symptoms depression,...
Patients' psychological reactions to multigene cancer panel testing might differ compared with the single-gene because of complexity and uncertainty associated different possible results. Understanding patients' preferences impact is important adapt genetic counselling model.One hundred eighty-seven unrelated patients clinical suspicion hereditary undergoing a 25-gene test completed questionnaires after pretest at 1 week, 3 months, 12 months results elicit their regarding disclosure measure...
Abstract Purpose The phase III VELOUR trial demonstrated efficacy with combined FOLFIRI‐aflibercept in patients metastatic colorectal cancer previously treated oxaliplatin or without bevacizumab versus placebo. effect of routine clinical practice was evaluated. Methods/Patients Overall survival (OS), progression‐free (PFS), response and safety were analysed for 78 at six GITuD institutions. Exploratory analyses prognostic predictive markers performed. Results Patients had good general status...
202 Background: ICIs have shown durable responses in dMMR/MSI-H digestive tumors phase II-III clinical trials. The aim of this study is to evaluate the efficacy, safety and prognostic factors context real-world practice. Methods: We conducted a retrospective multicenter observational patients with treated routine practice across seven university hospitals northwest Spain. analyzed clinicopathological characteristics, treatment response data, adverse events. Results: A total 122 between...
615 Background: Antagonism of Mouse double minute 2 homolog ( MDM2 ) can restore p53 activity and represents a novel therapeutic strategy in biliary tract cancer (BTC). We aimed to characterize the epidemiology total population versus that harbouring amplifications; potential associations other genetic alterations survival outcomes. Methods: evaluated large real-world cohort patients (pt) diagnosed with BTC from 1st January 2017 31st December 2022 Spanish RETUD registry. Next generation...
In patients with metastatic colorectal cancer, analysis of the number basal circulating tumour cells (bCTCs) has been shown to be a strong prognostic indicator. this study, we aim explore potential associations between whole blood mRNA and microRNA expression profiles bCTC counts, mutations prognosis in untreated cancer patients. A total 151 previously screened for inclusion two clinical trials (VISNÚ1 VISNÚ2) were enrolled study. Real-time quantitative PCR (qPCR) analyses performed...
Abstract Li-Fraumeni syndrome is caused by heterozygous germline pathogenic variants in the TP53 gene. It involves a high risk of variety malignant tumors childhood and adulthood, main ones being premenopausal breast cancer, soft tissue sarcomas osteosarcomas, central nervous system tumors, adrenocortical carcinomas. The variability associated clinical manifestations, which do not always fit classic criteria syndrome, has led concept SLF to extend more overarching cancer predisposition...
3507 Background: FOLFOXIRI+BEV has demonstrated a survival benefit compared with FOLFIRI plus BEV (TRIBE Lancet Oncol 2015) in first-line mCRC. Nevertheless, due to its safety profile, this schedule is not recommended for all pts. In addition, we have showed that the detection of ≥3 bCTCs poor prognostic factor (MACRO The Oncologist 2012). VISNU-1 trial compares FOLFOX + vs FOLFOXIRI pts mCRC and bCTCs. Progression-free (PFS) primary endpoint. Secondary endpoints included overall response...
The E3 ubiquitin-ligase Hakai binds to several tyrosine-phosphorylated Src substrates, including the hallmark of epithelial-to-mesenchymal transition E-cadherin, and signals for degradation its specific targets. is highly expressed in human cancers, colon cancer, considered as a drug target cancer therapy. Here, we report link between heat shock protein 90 (Hsp90) chaperone complex. Hsp90 participates correct folding client proteins, allowing them maintain their stability activity....
Abstract We evaluated the efficacy and safety of trifluridine/tipiracil (TAS-102) plus bevacizumab in treating refractory metastatic colorectal cancer (mCRC) a retrospective, observational study. Patients or intolerant to standard therapies received TAS-102 (30–35 mg/m 2 twice daily on days 1–5 8–12 every 28 days) 5 mg/kg 1 15. Clinical pathological characteristics, overall response rate (ORR), disease control (DCR), survival (OS) progression-free (PFS) data were collected analysed....
3022 Background: GDC-0068 is a highly selective ATP-competitive small molecule that inhibits all three isoforms of Akt with IC50 values 5 to 30 nM. selectively cancer cells activated signaling (e.g. via PTEN loss or PIK3CA mutations), allowing for rational strategy identify patients likely benefit. Methods: Patients (pts) advanced solid tumors were treated using 3+3 escalation design. Treatment included single dose 1wk washout study PK and PD markers, followed by dosing PO QD on 21-day on,...
1009 Background: Olaparib (AZD2281) is an oral PARP inhibitor active in advanced ovarian and breast cancers. We conducted a multicenter, dose-finding study assessing safety/ tolerability of olaparib capsules plus cisplatin patients (pts) with solid tumors (NCT00782574), for potential use the neoadjuvant setting. Methods: Pts received 21-day(d) cycles olaparib, continuously (Cont) or intermittently (Int), on d1 each cycle.Each cohort recruited ≥3 evaluable pts expansion to ≥6 if ≥1 had...