| Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification MT Parsons, E Tudini, H Li, E Hahnen, B Wappenschmidt, L Feliubadaló, ... Human mutation 40 (9), 1557-1578, 2019 | 141 | 2019 |
| Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings S Bonache, I Esteban, A Moles-Fernández, A Tenés, L Duran-Lozano, ... Journal of cancer research and clinical oncology 144, 2495-2513, 2018 | 75 | 2018 |
| 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) V Silvestri, G Leslie, DR Barnes, BA Agnarsson, K Aittomäki, E Alducci, ... JAMA oncology 6 (8), 1218-1230, 2020 | 60 | 2020 |
| Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels L Feliubadaló, A López‐Fernández, M Pineda, O Díez, J Del Valle, ... International Journal of Cancer 145 (10), 2682-2691, 2019 | 44 | 2019 |
| Association of premenopausal risk-reducing salpingo-oophorectomy with breast cancer risk in BRCA1/2 mutation carriers: maximising bias-reduction N Stjepanovic, G Villacampa, KT Nead, S Torres-Esquius, GG Melis, ... European Journal of Cancer 132, 53-60, 2020 | 24 | 2020 |
| BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort P Rofes, J Del Valle, S Torres-Esquius, L Feliubadaló, A Stradella, ... Genes 12 (2), 150, 2021 | 13 | 2021 |
| Incorporation of semi‐quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes G Montalban, S Bonache, A Moles‐Fernández, N Gadea, A Tenés, ... Human Mutation 40 (12), 2296-2317, 2019 | 13 | 2019 |
| Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T L Duran-Lozano, G Montalban, S Bonache, A Moles-Fernández, A Tenés, ... Breast Cancer Research and Treatment 174, 543-550, 2019 | 8 | 2019 |
| Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic A López-Fernández, G Villacampa, E Grau, M Salinas, E Darder, ... Genetics in Medicine 23 (8), 1450-1457, 2021 | 7 | 2021 |
| Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders E Carrasco, A López-Fernández, M Codina-Sola, I Valenzuela, ... Journal of Medical Genetics 60 (7), 685-691, 2023 | 6 | 2023 |
| Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer S Torres-Esquius, A Llop-Guevara, S Gutiérrez-Enríquez, M Romey, ... JAMA Network Open 7 (4), e247811-e247811, 2024 | 4 | 2024 |
| Genetic and functional homologous repair deficiency as biomarkers for platinum sensitivity in TNBC: A case report D Gomez-Puerto, A Llop-Guevara, M Cruellas, S Torres-Esquius, ... Frontiers in Oncology 12, 963728, 2022 | 4 | 2022 |
| Role of psychological background in cancer susceptibility genetic testing distress: it is not only about a positive result A López‐Fernández, G Villacampa, M Salinas, E Grau, E Darder, ... Journal of Genetic Counseling 32 (4), 778-787, 2023 | 2 | 2023 |
| Two Germline Pathogenic Variants in Cancer Susceptibility Genes and Their Null Implication in Breast Cancer Pathogenesis: The Importance of Tumoral Homologous Recombination … A Rezqallah, S Torres-Esquius, A Llop-Guevara, M Cruellas, MT Martinez, ... JCO Precision Oncology 8, e2300446, 2024 | 1 | 2024 |
| Genomic Instability in Early-Onset Myelodysplastic Syndrome Patients Harboring Rare Germline Variants in NHEJ DNA Repair Genes M Gabarrós-Subirà, CP Míguez, SN Jáuregui, JA Díaz-Arias, TH Chen, ... Blood 144, 2708, 2024 | | 2024 |
| Association of Clonal Hematopoiesis and Dysgranulopoiesis with Germline ETV6 Carriers without Hematological Malignancies S Torres-Esquius, GR López, MG Subira, P Acha, SN Jáuregui, ... Blood 144, 2709, 2024 | | 2024 |
| Clonal Hematopoiesis in Relatives of Adults with Myeloid Neoplasms with Germline Predisposition SN Jáuregui, S Torres-Esquius, MG Subira, AM Garrido, CP Jou, P Acha, ... Blood 144, 5701, 2024 | | 2024 |
| Germline assessment for alloHSCT candidates over 50 years: A ‘Fast‐Track’screening in myeloid neoplasms S Torres‐Esquius, F Beas, TH Chen‐Liang, H Pomares, M Santiago, ... British Journal of Haematology, 2024 | | 2024 |
| Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer M Romey, G Llort, S Torres-Esquius, A Llop-Guevara, ... American Medical Association, 2024 | | 2024 |
| Risk of endometrial cancer after RRSO in BRCA 1/2 carriers: a multicentre cohort study H Pla-Juher, M Pardo, ÀJ Izquierdo, E Darder, A Carbó, E Munté, ... Clinical and Translational Oncology 26 (4), 1033-1037, 2024 | | 2024 |
