Sara Torres-Esquius
Genetic counsellor in Barcelona. She supports adults and their families in understanding genetic risk and making decisions calmly.
Career
More than 10 years of experience in genetics.
Genetic counsellor at Hospital Vall d'Hebron since 2021.
Genetic counsellor at Clínica Corachan-IDOC since 2025.
Board member of SEAGen.
Associate lecturer at the UAB since 2025.
Press and outreach
El País
La Vanguardia
RTVE
Onda Cero
Telemadrid
SEHH manual (2024)
Publications
Articles in scientific journals, taken from PubMed. 26 publications on PubMed.
2026 · Blood
Molecular Underpinnings and Prevalence of Donor Cell-Derived Hematologic Neoplasms among Spanish Transplantation Centers (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)Calvete O, Mestre J, Zamora L et al.
See the remaining 21
2026 · NPJ breast cancer
RAD51-based homologous recombination deficiency is associated with treatment response and survival in early breast cancer (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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) (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)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 (opens in a new tab)Bonache S, Esteban I, Moles-Fernández A et al.