Search Results - "Teule, Alex"
-
1
The wide spectrum of POT1 gene variants correlates with multiple cancer types
Published in European journal of human genetics : EJHG (01-11-2017)“…The POT1 protein binds and protects telomeres. Germline variants in the POT1 gene have recently been shown to be associated with risk of developing tumors in…”
Get full text
Journal Article -
2
Sunitinib and Evofosfamide (TH‐302) in Systemic Treatment‐Naïve Patients with Grade 1/2 Metastatic Pancreatic Neuroendocrine Tumors: The GETNE‐1408 Trial
Published in The oncologist (Dayton, Ohio) (01-11-2021)“…Background Sunitinib (SUN)‐induced hypoxia within the tumor could promote the activation of the prodrug evofosfamide (EVO), locally releasing the cytotoxic DNA…”
Get full text
Journal Article -
3
Neuroendocrine Tumor Heterogeneity Adds Uncertainty to the World Health Organization 2010 Classification: Real‐World Data from the Spanish Tumor Registry (R‐GETNE)
Published in The oncologist (Dayton, Ohio) (01-04-2018)“…Background Gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are a complex family of tumors of widely variable clinical behavior. The World Health…”
Get full text
Journal Article -
4
High Prevalence of Somatic Oncogenic Driver Alterations in Patients With NSCLC and Li-Fraumeni Syndrome
Published in Journal of thoracic oncology (01-07-2020)“…Actionable somatic molecular alterations are found in 15% to 20% of NSCLC in Europe. NSCLC is a tumor observed in patients with germline TP53 variants causing…”
Get more information
Journal Article -
5
Nivolumab plus platinum-doublet chemotherapy in treatment-naive patients with advanced grade 3 Neuroendocrine Neoplasms of gastroenteropancreatic or unknown origin: The multicenter phase 2 NICE-NEC trial (GETNE-T1913)
Published in Nature communications (08-08-2024)“…The prognosis of patients with advanced high-grade (G3) digestive neuroendocrine neoplasms (NENs) is rather poor. The addition of immune checkpoint inhibition…”
Get full text
Journal Article -
6
ERCC3, a new ovarian cancer susceptibility gene?
Published in European journal of cancer (1990) (01-12-2020)“…Hereditary breast and ovarian cancer syndrome (HBOC) is an inherited disorder with an increased risk of breast cancer (BC) and ovarian cancers (OC). Mutations…”
Get full text
Journal Article -
7
Carcinoid crisis: The challenge is still there
Published in Endocrinología, diabetes y nutrición. (01-06-2024)“…Carcinoid crisis (CC) has classically been considered the extreme end of the spectrum of carcinoid syndrome (CS). However, this presumption and other aspects…”
Get full text
Journal Article -
8
Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines
Published in The Journal of molecular diagnostics : JMD (01-12-2020)“…RNA analyses are a potent tool to identify spliceogenic effects of DNA variants, although they are time-consuming and cannot always be performed. We present…”
Get full text
Journal Article -
9
Is long-term follow-up solely by imaging tests safe in non-operated pancreatic neuroendocrine tumors?
Published in Revista española de enfermedades digestivas (01-04-2024)“…the diagnosis of asymptomatic sporadic nonfunctioning pancreatic neuroendocrine tumors (NF-PNETs) has increased significantly due to the widespread use of…”
Get full text
Journal Article -
10
Assessment of ovarian reserve and reproductive outcomes in BRCA1 or BRCA2 mutation carriers
Published in International journal of gynecological cancer (01-01-2020)“…The clinical impact on fertility in carriers of and mutations remains unclear. The aim of this study was to assess ovarian reserve as measured by…”
Get more information
Journal Article -
11
Colorectal cancer: From prevention to personalized medicine
Published in World journal of gastroenterology : WJG (14-06-2014)“…Colorectal cancer(CRC)is a very heterogeneous disease that is caused by the interaction of genetic and environmental factors.CRC develops through a gradual…”
Get full text
Journal Article -
12
Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer
Published in Breast cancer research and treatment (01-02-2012)“…It has been demonstrated that monoallelic PALB2 (Partner and Localizer of BRCA2) gene mutations predispose to familial breast cancer. Some of the families…”
Get full text
Journal Article -
13
Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers
Published in Breast cancer research and treatment (01-11-2014)“…Early-onset diagnosis is an eligibility criterion for BRCA1 and BRCA2 ( BRCA ) testing in sporadic breast cancer patients. Limited family structure has been…”
Get full text
Journal Article -
14
Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes
Published in Breast cancer research and treatment (01-08-2010)“…Large genomic rearrangements are estimated to account for approximately 5-10% of all disease-causing mutations in BRCA1 and BRCA2 genes in patients with…”
Get full text
Journal Article -
15
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes
Published in Breast cancer research and treatment (01-04-2012)“…Comprehensive genetic testing of the breast cancer susceptibility genes BRCA1 and BRCA2 identified approximately 16% of variants of unknown significance (VUS),…”
Get full text
Journal Article -
16
The PALBONET Trial: A Phase II Study of Palbociclib in Metastatic Grade 1 and 2 Pancreatic Neuroendocrine Tumors (GETNE‐1407)
Published in The oncologist (Dayton, Ohio) (01-09-2020)“…Lessons Learned Palbociclib demonstrated no detectable activity in molecularly unselected and heavily pretreated patients with advanced grade 1/2 pancreatic…”
Get full text
Journal Article -
17
Ectopic Cushing’s syndrome due to thymic neuroendocrine tumours: a systematic review
Published in Reviews in endocrine & metabolic disorders (01-12-2021)“…Knowledge of ectopic Cushing’s syndrome (CS) due to thymic neuroendocrine tumours (NETs) comes from short series or single cases. Our aim is to perform a…”
Get full text
Journal Article -
18
Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1
Published in Nature communications (06-03-2018)“…BRCA1 is a tumor suppressor that regulates DNA repair by homologous recombination. Germline mutations in BRCA1 are associated with increased risk of breast and…”
Get full text
Journal Article -
19
Biological basis of extensive pleiotropy between blood traits and cancer risk
Published in Genome medicine (02-02-2024)“…The immune system has a central role in preventing carcinogenesis. Alteration of systemic immune cell levels may increase cancer risk. However, the extent to…”
Get full text
Journal Article -
20
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels
Published in International journal of cancer (15-11-2019)“…Multigene panels provide a powerful tool for analyzing several genes simultaneously. We evaluated the frequency of pathogenic variants (PV) in customized…”
Get full text
Journal Article