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 | 143 | 2019 |
The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology D Tamborero, R Dienstmann, MH Rachid, J Boekel, A Lopez-Fernandez, ... Nature cancer 3 (2), 251-261, 2022 | 99 | 2022 |
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 |
Computational tools for splicing defect prediction in breast/ovarian cancer genes: how efficient are they at predicting RNA alterations? A Moles-Fernández, L Duran-Lozano, G Montalban, S Bonache, ... Frontiers in genetics 9, 366, 2018 | 63 | 2018 |
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness VL Patel, EL Busch, TM Friebel, A Cronin, G Leslie, L McGuffog, J Adlard, ... Cancer research 80 (3), 624-638, 2020 | 56 | 2020 |
Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma B Calsina, E Piñeiro-Yáñez, ÁM Martínez-Montes, E Caleiras, ... Nature communications 14 (1), 1122, 2023 | 45 | 2023 |
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 |
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers J Coignard, M Lush, J Beesley, TA O’mara, J Dennis, JP Tyrer, DR Barnes, ... Nature communications 12 (1), 1078, 2021 | 42 | 2021 |
Quality of colonoscopy is associated with adenoma detection and postcolonoscopy colorectal cancer prevention in Lynch syndrome A Sánchez, VH Roos, M Navarro, M Pineda, B Caballol, L Moreno, ... Clinical Gastroenterology and Hepatology 20 (3), 611-621. e9, 2022 | 40 | 2022 |
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast … G Montalban, S Bonache, A Moles-Fernández, A Gisbert-Beamud, ... Journal of medical genetics 56 (2), 63-74, 2019 | 38 | 2019 |
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores DR Barnes, V Silvestri, G Leslie, L McGuffog, J Dennis, X Yang, J Adlard, ... JNCI: Journal of the National Cancer Institute 114 (1), 109-122, 2022 | 36 | 2022 |
Clinical and pathological characterization of Lynch-like syndrome MD Picó, A Castillejo, Ó Murcia, M Giner-Calabuig, M Alustiza, A Sánchez, ... Clinical Gastroenterology and Hepatology 18 (2), 368-374. e1, 2020 | 31 | 2020 |
Hereditary leiomyomatosis and renal cell cancer syndrome in Spain: Clinical and genetic characterization AB Sánchez-Heras, A Castillejo, JD García-Díaz, M Robledo, A Teulé, ... Cancers 12 (11), 3277, 2020 | 17 | 2020 |
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study G Montalban, E Fraile‐Bethencourt, I López‐Perolio, P Pérez‐Segura, ... Human mutation 39 (9), 1155-1160, 2018 | 16 | 2018 |
Risk of cancer in family members of patients with lynch-like syndrome MD Picó, AB Sánchez-Heras, A Castillejo, M Giner-Calabuig, M Alustiza, ... Cancers 12 (8), 2225, 2020 | 11 | 2020 |
A narrative overview of the patients’ outcomes after multigene cancer panel testing, and a thorough evaluation of its implications for genetic counselling I Esteban, A Lopez-Fernandez, J Balmana European Journal of Medical Genetics 62 (5), 342-349, 2019 | 9 | 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 |
Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma S Mellid, E Gil, R Letón, E Caleiras, E Honrado, S Richter, N Palacios, ... Frontiers in Endocrinology 13, 1070074, 2023 | 7 | 2023 |
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 |