[HTML][HTML] PheoSeq: a targeted next-generation sequencing assay for pheochromocytoma and paraganglioma diagnostics

M Currás-Freixes, E Piñeiro-Yañez… - The Journal of Molecular …, 2017 - Elsevier
Genetic diagnosis is recommended for all pheochromocytoma and paraganglioma (PPGL)
cases, as driver mutations are identified in approximately 80% of the cases. As the list of …

[HTML][HTML] Clinical effectiveness of olaparib monotherapy in germline BRCA-mutated, HER2-negative metastatic breast cancer in a real-world setting: phase IIIb LUCY …

KA Gelmon, PA Fasching, FJ Couch, J Balmaña… - European Journal of …, 2021 - Elsevier
Background In the phase III OlympiAD trial, olaparib significantly increased progression-free
survival (PFS) compared with chemotherapy of physician's choice in patients with germline …

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

A Stradella, J Del Valle, P Rofes… - Journal of medical …, 2019 - jmg.bmj.com
Importance Genetic testing of hereditary cancer using comprehensive gene panels can
identify patients with more than one pathogenic mutation in high and/or moderate-risk …

[PDF][PDF] Germline TP53 pathogenic variants and breast cancer: A narrative review

K Punie, R Graffeo, A Toss, C De Angelis… - 2023 - scientiasalut.gencat.cat
Approximately 10% of breast cancers are associated with the inheritance of a pathogenic
variant (PV) in one of the breast cancer susceptibility genes. Multiple breast cancer …

A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome

DH Marmolejo Castañeda, M Cruellas Lapeña… - Familial Cancer, 2023 - Springer
Rothmund-Thomson syndrome, a heterogeneous genodermatosis with autosomal recessive
hereditary pattern, is an uncommon cancer susceptibility genetic syndrome. To date, only …

[PDF][PDF] Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma

E Carrasco López, S Del Marro, A Suñol, J Peral… - 2023 - scientiasalut.gencat.cat
Fanconi anemia (FA) patients display an exacerbated risk of oral squamous cell carcinoma
(OSCC) and oral potentially malignant lesions (OPMLs) at early ages. As patients have …

[PDF][PDF] Identification of a Molecularly-Defined Subset of Breast and Ovarian Cancer Models that Respond to WEE1 or ATR Inhibition, Overcoming PARP Inhibitor …

V Serra Elizalde, AT Wang, M Castroviejo Bermejo… - 2022 - scientiasalut.gencat.cat
Purpose: PARP inhibitors (PARPi) induce synthetic lethality in homologous recombination
repair (HRR)-deficient tumors and are used to treat breast, ovarian, pancreatic, and prostate …

[PDF][PDF] Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

V Silvestri, G Leslie, L McGuffog, J Dennis, X Yang… - 2022 - scientiasalut.gencat.cat
Background Recent population-based female breast cancer and prostate cancer polygenic
risk scores (PRS) have been developed. We assessed the associations of these PRS with …

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

M González-Acosta, G Vargas-Parra, M Navarro… - 2020 - scientiasalut.gencat.cat
The causal mechanism for cancer predisposition in Lynch-like syndrome (LLS) remains
unknown. Our aim was to elucidate the constitutional basis of mismatch repair (MMR) …

[PDF][PDF] Evolving Landscape of Molecular Prescreening Strategies for Oncology Early Clinical Trials

E Garralda Cabanas, S Aguilar, G Sala De Vedruna… - 2020 - scientiasalut.gencat.cat
Most academic precision oncology programs have been designed to facilitate enrollment of
patients in early clinical trials with matched targeted agents. Over the last decade, major …