Estela Carrasco
A5050193308- BRCA gene mutations in cancer
- Infant Nutrition and Health
- Digestive system and related health
- Cancer Genomics and Diagnostics
- DNA Repair Mechanisms
- Genetic factors in colorectal cancer
- Milk Quality and Mastitis in Dairy Cows
- Genomics and Rare Diseases
- Cancer Risks and Factors
- Nutrition, Genetics, and Disease
- CRISPR and Genetic Engineering
- Cancer-related Molecular Pathways
- Reproductive Biology and Fertility
- Head and Neck Cancer Studies
- Nutritional Studies and Diet
- Oral Health Pathology and Treatment
- Esophageal Cancer Research and Treatment
- Prenatal Screening and Diagnostics
- RNA Research and Splicing
- RNA modifications and cancer
- Gastric Cancer Management and Outcomes
- Genomic variations and chromosomal abnormalities
- Ovarian cancer diagnosis and treatment
- Family Support in Illness
- Chromosomal and Genetic Variations
Vall d'Hebron Hospital Universitari
2013-2024
Vall d'Hebron Institute of Oncology
2015-2024
Institut Català d'Oncologia
2024
Vall d'Hebron Institut de Recerca
2015-2023
Spanish Ovarian Cancer Research Group
2018-2022
Universitat Autònoma de Barcelona
2015-2022
Hebron University
2021
München Klinik
2018
Hospital Universitario Ramón y Cajal
2017
GEICAM – Spanish Breast Cancer Group
2013-2016
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity multiple cancer syndrome genes. Independent data types currently incorporated in the model assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability based on location bioinformatic prediction effect, co-segregation, family history profile, co-occurrence with a pathogenic same gene, breast tumor pathology, case-control information. Research...
Young women with germline BRCA mutations have unique reproductive challenges. Pregnancy after breast cancer does not increase the risk of recurrence; however, very limited data are available in patients mutations. This study investigated impact pregnancy on outcomes mutations.This is an international, multicenter, hospital-based, retrospective cohort study. Eligible were diagnosed between January 2000 and December 2012 invasive early at age ≤ 40 years harbored deleterious Primary end points...
Importance Young women with breast cancer who have germline pathogenic variants in BRCA1 or BRCA2 face unique challenges regarding fertility. Previous studies demonstrating the feasibility and safety of pregnancy survivors included limited data BRCA carriers. Objective To investigate cumulative incidence disease-free survival young are Design, Setting, Participants International, multicenter, hospital-based, retrospective cohort study conducted at 78 participating centers worldwide. The...
In silico tools for splicing defect prediction have a key role to assess the impact of variants uncertain significance. Our aim was evaluate performance set commonly used in comparing predictions against RNA vitro results. This done natural splice sites clinically relevant genes hereditary breast/ovarian cancer (HBOC) and Lynch syndrome. A study divided into two stages SSF-like, MaxEntScan, NNSplice, HSF, SPANR dbscSNV tools. discovery dataset 99 with unequivocal results studies, located 10...
Breast cancer occurring during pregnancy (PrBC) and postpartum (PPBC) is usually diagnosed at more advanced stages compared with other breast cancer, worsening its prognosis. PPBC particularly aggressive, increased metastatic risk mortality. Thus, effective screening methods to detect early PrBC are needed. We report for the first time that cell-free tumor DNA (ctDNA) present in milk (BM) collected from patients cancer. Analysis of ctDNA BM detects variants 87% cases by droplet digital PCR,...
Fanconi anemia (FA) patients display an exacerbated risk of oral squamous cell carcinoma (OSCC) and potentially malignant lesions (OPMLs) at early ages. As have defects in their DNA repair mechanisms, standard-of-care treatments for OSCC such as radiotherapy chemotherapy, give rise to severe toxicities. New methods diagnosis are urgently needed allow treatment disease stages achieve better clinical outcomes. We conducted a prospective, longitudinal study wherein liquid biopsies from sixteen...
Abstract Background Breast cancer (BC) in women aged ≤40 years carrying germline pathogenetic variants (PVs) BRCA1/2 genes is infrequent but often associated with aggressive features. Human epidermal growth factor receptor 2 (HER2)‐low‐expressing BC has recently emerged as a novel therapeutic target not been characterized this rare patient subset. Methods Women newly diagnosed early‐stage HER2‐negative (HER2‐0 and HER2‐low) PVs from 78 health care centers worldwide were retrospectively...
Hormone receptor expression is a known positive prognostic and predictive factor in breast cancer; however, limited evidence exists on its impact prognosis of young patients harboring pathogenic variant (PV) the BRCA1 and/or BRCA2 genes.
Abstract Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs BRCA1/2 were overall cancer high grade (Gleason 8+) using an international sample 65 171 male PSV carriers cancer, 3,388 2,880 without the 3′ region (c.7914+) significantly elevated compared reference bin c.1001-c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25–2.52; P 0.001], as well Gleason 8+ (HR 3.11; CI, 1.63–5.95;...
Study Type – Prognosis (cohort) Level of Evidence 2b What's known on the subject? and What does study add? In animals, anogenital distance has been shown to be related action fetal androgens, exposure chemicals such as dioxins that exhibit antiandrogenic activity results in shorter distances male rats. studies conducted children, associated with endocrine disruptors phthalates. Studies young adults found a anoscrotal was predictor low sperm concentration, longer fatherhood, higher density...
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...
Background Genetic analysis of BRCA1 and BRCA2 for the diagnosis hereditary breast ovarian cancer (HBOC) is commonly restricted to coding regions exon-intron boundaries. Although germline pathogenic variants in these explain about ~20% HBOC cases, there still an important fraction that remains undiagnosed. We have screened BRCA1/2 deep intronic identify potential spliceogenic could part missing susceptibility. Methods analysed by targeted gene sequencing 192 high-risk families testing...
Abstract Young breast cancer (BC) patients carrying a germline BRCA pathogenic variant ( mBRCA ) have similar outcomes as non-carriers. However, the impact of type gene BRCA1 vs. BRCA2 and hormone receptor status (positive [HR+] negative [HR−]) on clinical behavior BC remains largely unknown. This is an international, multicenter, hospital-based, retrospective cohort study that included diagnosed, between January 2000 December 2012, with stage I–III invasive early at age ≤40 years. From 30...
Purpose Patients with Fanconi anaemia (FA), a rare DNA repair genetic disease, exhibit chromosome fragility, bone marrow failure, malformations and cancer susceptibility. FA molecular diagnosis is challenging since caused by point mutations large deletions in 22 genes following three heritability patterns. To optimise patients’ characterisation, we developed simplified but effective methodology based on whole exome sequencing (WES) functional studies. Methods 68 patients were analysed...
Abstract Fanconi anemia (FA) is characterized by chromosome fragility, bone marrow failure (BMF) and predisposition to cancer. As reverse genetic mosaicism has been described as “natural gene therapy” in patients with FA, we sought evaluate the clinical course of a cohort FA mosaic followed at referral centers Spain over 30‐year period. This includes majority T cells without chromosomal aberrations DEB‐chromosomal breakage test. Relative non‐mosaic patients, observed higher proportion adult...
Knowledge is growing on the safety of assisted reproductive techniques (ART) in cancer survivors. No data exist, however, for specific population breast patients harboring germline BRCA1/2 pathogenic variants.This a multicenter retrospective cohort study across 30 centers worldwide including women diagnosed at ≤40 years with stage I-III cancer, between January 2000 and December 2012, known variants. Patients included this analysis had post-treatment pregnancy either achieved through use ART...
Fanconi anemia (FA) patients frequently develop oral squamous cell carcinoma (OSCC). This cancer in FA is diagnosed within the first 3-4 decades of life, very often preceded by lesions that suffer a malignant transformation. In addition, they respond poorly to current treatments due toxicity or multiple recurrences. Translational research on new chemopreventive agents and therapeutic strategies has been unsuccessful partly scarcity disease models failure fully reproduce disease. Here we...
Fanconi anemia (FA) patients display an exacerbated risk of oral squamous cell carcinoma (OSCC) and precursor lesions at young ages, mainly the cavity. As have defects in DNA repair mechanisms, standard-of-care treatments to OSCC such as radiotherapy chemotherapy give rise severe toxicities. New methods for early diagnosis are urgently necessary allow disease stages achieve better clinical outcomes. We conducted a prospective, longitudinal study whereby liquid biopsies from sixteen...