Epithelial ovarian cancer: providing evidence of predisposition genes

S Shah, A Cheung, M Kutka, M Sheriff… - International Journal of …, 2022 - mdpi.com
Epithelial ovarian cancer (EOC) is one of the cancers most influenced by hereditary factors.
A fourth to a fifth of unselected EOC patients carry pathogenic variants (PVs) in a number of …

BRCA1/2 variants of unknown significance in hereditary breast and ovarian cancer (HBOC) syndrome: looking for the hidden meaning

D Fanale, A Pivetti, D Cancelliere, A Spera… - Critical Reviews in …, 2022 - Elsevier
Hereditary breast and ovarian cancer syndrome is caused by germline mutations in
BRCA1/2 genes. These genes are very large and their mutations are heterogeneous and …

BRCA1/2 pathogenic variants in triple-negative versus luminal-like breast cancers: genotype–phenotype correlation in a cohort of 531 patients

L Incorvaia, D Fanale, M Bono, V Calò… - Therapeutic …, 2020 - journals.sagepub.com
Background: Several available data suggest the association between specific molecular
subtypes and BRCA1/2 mutational status. Previous investigations showed the association …

BRCA mutation status in triple-negative breast cancer patients treated with neoadjuvant chemotherapy: a pivotal role for treatment decision-making

F Pavese, ED Capoluongo, M Muratore, A Minucci… - Cancers, 2022 - mdpi.com
Simple Summary In this retrospective observational study, we evaluated data from patients
with triple-negative breast cancer (TNBC) treated with neoadjuvant chemotherapy (NACT) in …

Bringing onco-innovation to Europe's healthcare systems: The potential of biomarker testing, real world evidence, tumour agnostic therapies to empower personalised …

D Horgan, G Ciliberto, P Conte, G Curigliano, L Seijo… - Cancers, 2021 - mdpi.com
Simple Summary The increasing number of data supporting use of a personalized approach
in cancer treatment, is changing the path of patient's management. In the same time, the …

Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily

S Stella, SR Vitale, F Martorana… - Cancer management …, 2022 - Taylor & Francis
Purpose Germline mutations of BRCA1 and BRCA2 are associated with a defined lifetime
risk of breast (BC), ovarian (OC) and other cancers. Testing BRCA genes is pivotal to assess …

The BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times

P Aretini, S Presciuttini, A Pastore, A Galli… - International Journal of …, 2023 - mdpi.com
Approximately 30–50% of hereditary breast and ovarian cancer (HBOC) is due to the
presence of germline pathogenic variants in the BRCA1 (OMIM 113705) and BRCA2 (OMIM …

The Fanconi anemia pathway and Breast Cancer: A comprehensive review of clinical data

P Gianni, E Matenoglou, G Geropoulos, N Agrawal… - Clinical Breast …, 2022 - Elsevier
The development of breast cancer depends on several risk factors, including environmental,
lifestyle and genetic factors. Despite the evolution of DNA sequencing techniques and …

“Combo” Multi-Target Pharmacological Therapy and New Formulations to Reduce Inflammation and Improve Endogenous Remyelination in Traumatic Spinal Cord …

M Moretti, R Caraffi, L Lorenzini, I Ottonelli, M Sannia… - Cells, 2023 - mdpi.com
Spinal cord injury (SCI) is characterized by a cascade of events that lead to sensory and
motor disabilities. To date, this condition is irreversible, and no cure exists. To improve …

Beyond brca1/2: homologous recombination repair genetic profile in a large cohort of apulian ovarian cancers

A Turchiano, DC Loconte, R De Nola, F Arezzo… - Cancers, 2022 - mdpi.com
Simple Summary Ovarian cancer (OC) is the second most common gynecologic malignancy
and the most common cause of death among women with gynecologic cancer. Despite …