Sara Torres-Esquius
Assessora genètica a Barcelona. Acompanya persones adultes i les seves famílies a entendre el risc genètic i a prendre decisions amb calma.
Trajectòria
Més de 10 anys d'experiència en genètica.
Assessora genètica a l'Hospital Vall d'Hebron des del 2021.
Assessora genètica a la Clínica Corachan-IDOC des del 2025.
Vocal de la Junta Directiva de SEAGen.
Professora vinculada a la UAB des del 2025.
Premsa i divulgació
El País
La Vanguardia
RTVE
Onda Cero
Telemadrid
Manual SEHH (2024)
Publicacions
Articles en revistes científiques, extrets de PubMed. 26 publicacions a PubMed.
2026 · Blood
Molecular Underpinnings and Prevalence of Donor Cell-Derived Hematologic Neoplasms among Spanish Transplantation Centers (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)Calvete O, Mestre J, Zamora L et al.
Veure les 21 restants
2026 · NPJ breast cancer
RAD51-based homologous recombination deficiency is associated with treatment response and survival in early breast cancer (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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) (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)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 (s'obre en una altra pestanya)Bonache S, Esteban I, Moles-Fernández A et al.