Sara Torres-Esquius
Asesora genética en Barcelona. Acompaña a personas adultas y a sus familias a entender el riesgo genético y a tomar decisiones con calma.
Trayectoria
Más de 10 años de experiencia en genética.
Asesora genética en el Hospital Vall d'Hebron desde 2021.
Asesora genética en la Clínica Corachan-IDOC desde 2025.
Vocal de la Junta Directiva de SEAGen.
Profesora vinculada en la UAB desde 2025.
Prensa y divulgación
El País
La Vanguardia
RTVE
Onda Cero
Telemadrid
Manual SEHH (2024)
Publicaciones
Artículos en revistas científicas, tomados de PubMed. 26 publicaciones en PubMed.
2026 · Blood
Molecular Underpinnings and Prevalence of Donor Cell-Derived Hematologic Neoplasms among Spanish Transplantation Centers (se abre en otra pestaña)Gabarros-Subira M, Pomares H, Beas F et al.
2026 · American journal of hematology
Promoter TERT-Related Hematopoietic Somatic Mosaicism in Patients With Telomere Biology Disorders (se abre en otra pestaña)Franke M, Kirchner R, Barredo B et al.
2026 · Blood cancer journal
Hair bulb and oral mucosa DNA for prompt germline testing in hematologic neoplasms (se abre en otra pestaña)Balbastre-Úbeda F, Torres-Esquius S, Gabarrós-Subirà M et al.
2026 · Blood advances
Performance and clinical utility of Spanish germ line genetic testing criteria for hematologic neoplasms predisposition (se abre en otra pestaña)Torres-Esquius S, Ramil-López G, Gabarrós-Subirà M et al.
2026 · Cancers
Different SF3B1 Mutation Hotspots Show Hematopoietic Lineage-Specific VAF Patterns and Correlate with Distinct Genetic and Prognostic Profiles in Patients with Myeloid Neoplasms (se abre en otra pestaña)Calvete O, Mestre J, Zamora L et al.
Ver las 21 restantes
2026 · NPJ breast cancer
RAD51-based homologous recombination deficiency is associated with treatment response and survival in early breast cancer (se abre en otra pestaña)Llop-Guevara A, Pellegrino B, Pimentel I et al.
2026 · Leukemia
DDX41-mutant myeloid neoplasms defy current prognostic schemes and require a dedicated risk scoring system: a multicenter, retrospective study (se abre en otra pestaña)Gurnari C, Makishima H, Durmaz A et al.
2025 · Journal of genetic counseling
Exploring communication preferences for disclosing breast cancer risk in women with a family history (se abre en otra pestaña)López-Fernández A, Pardo M, Pérez-Ballestero E et al.
2025 · Journal of the National Cancer Institute
A randomized study of 2 risk assessment models for individualized breast cancer risk estimation (se abre en otra pestaña)López-Fernández A, Duran-Lozano L, Villacampa G et al.
2025 · Leukemia
Myelodysplastic neoplasms with ring sideroblasts without SF3B1 mutations in adults: enrichment of germline variants in congenital sideroblastic anemia genes (se abre en otra pestaña)Novoa-Jáuregui S, Huber S, Gabarrós-Subirà M et al.
2024 · British journal of haematology
Germline assessment for alloHSCT candidates over 50 years: A 'Fast-Track' screening in myeloid neoplasms (se abre en otra pestaña)Torres-Esquius S, Beas F, Chen-Liang TH et al.
2024 · JAMA network open
Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer (se abre en otra pestaña)Torres-Esquius S, Llop-Guevara A, Gutiérrez-Enríquez S et al.
2024 · Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
Risk of endometrial cancer after RRSO in BRCA 1/2 carriers: a multicentre cohort study (se abre en otra pestaña)Pla-Juher H, Pardo M, Izquierdo ÀJ et al.
2024 · JCO precision oncology
Two Germline Pathogenic Variants in Cancer Susceptibility Genes and Their Null Implication in Breast Cancer Pathogenesis: The Importance of Tumoral Homologous Recombination Deficiency Testing (se abre en otra pestaña)Rezqallah A, Torres-Esquius S, Llop-Guevara A et al.
2023 · Journal of genetic counseling
Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result (se abre en otra pestaña)López-Fernández A, Villacampa G, Salinas M et al.
2023 · Journal of medical genetics
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders (se abre en otra pestaña)Carrasco E, López-Fernández A, Codina-Sola M et al.
2023 · Familial cancer
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome (se abre en otra pestaña)Marmolejo Castañeda DH, Cruellas Lapeña M, Carrasco López E et al.
2022 · Frontiers in oncology
Genetic and functional homologous repair deficiency as biomarkers for platinum sensitivity in TNBC: A case report (se abre en otra pestaña)Gomez-Puerto D, Llop-Guevara A, Cruellas M et al.
2021 · Genetics in medicine : official journal of the American College of Medical Genetics
Patients' and professionals' perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic (se abre en otra pestaña)López-Fernández A, Villacampa G, Grau E et al.
2021 · Genes
BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort (se abre en otra pestaña)Rofes P, Del Valle J, Torres-Esquius S et al.
2020 · JAMA oncology
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) (se abre en otra pestaña)Silvestri V, Leslie G, Barnes DR et al.
2020 · European journal of cancer (Oxford, England : 1990)
Association of premenopausal risk-reducing salpingo-oophorectomy with breast cancer risk in BRCA1/2 mutation carriers: Maximising bias-reduction (se abre en otra pestaña)Stjepanovic N, Villacampa G, Nead KT et al.
2019 · Human mutation
Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes (se abre en otra pestaña)Montalban G, Bonache S, Moles-Fernández A et al.
2019 · Human mutation
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification (se abre en otra pestaña)Parsons MT, Tudini E, Li H et al.
2019 · Breast cancer research and treatment
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T (se abre en otra pestaña)Duran-Lozano L, Montalban G, Bonache S et al.
2018 · Journal of cancer research and clinical oncology
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings (se abre en otra pestaña)Bonache S, Esteban I, Moles-Fernández A et al.