Sofia Fragoso
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View article: Comparing Prognosis for BRCA1, BRCA2, and Non-BRCA Breast Cancer
Comparing Prognosis for BRCA1, BRCA2, and Non-BRCA Breast Cancer Open
Background: Germline pathogenic variants (PV) in BRCA1 and BRCA2 genes, which account for 20% of familial breast cancer (BC) cases, are highly penetrant and are associated with Hereditary Breast/Ovarian Cancer Syndrome. Previous studies, m…
View article: Is There a Role for Risk-Reducing Bilateral Breast Surgery in BRCA1/2 Ovarian Cancer Survivors? An Observational Study
Is There a Role for Risk-Reducing Bilateral Breast Surgery in BRCA1/2 Ovarian Cancer Survivors? An Observational Study Open
Background: Risk-reducing surgeries are an option for cancer risk management in BRCA1/2 individuals. However, while adnexectomy is commonly recommended in breast cancer (BC) survivors, risk-reducing bilateral breast surgery (RRBBS) is cont…
View article: Diagnosis, follow up and clinical management of individuals identified with a TP53 pathogenic variant
Diagnosis, follow up and clinical management of individuals identified with a TP53 pathogenic variant Open
Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome. Germline pathogenic/likely pathogenic variants (P/LPVs) in the TP53 gene are the only known genetic cause of this entity. Due to the severe phenotype and c…
View article: Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study
Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study Open
Access to genetic testing and counselling in remote areas such as the Madeira archipelago, in the Northern Atlantic Ocean, may be complex. Different counselling methods, including telegenetics, should be explored. In this study, we charact…
View article: High-Throughput Sequencing Identifies 3 Novel Susceptibility Genes for Hereditary Melanoma
High-Throughput Sequencing Identifies 3 Novel Susceptibility Genes for Hereditary Melanoma Open
Cutaneous melanoma is one of the most aggressive human cancers due to its high invasiveness. Germline mutations in high-risk melanoma susceptibility genes have been associated with development hereditary melanoma; however, most genetic cul…
View article: Index BRCA1/2 testing under a multidisciplinary program
Index BRCA1/2 testing under a multidisciplinary program Open
Background: Germline BRCA1/2 mutations are the main cause of Hereditary Breast and Ovarian Cancer syndrome (HBOC). Whenever possible, Index testing should be done in a family member with a previous breast or ovarian cancer (affected indivi…
View article: Individual and familial phenotype in hereditary ovarian cancer
Individual and familial phenotype in hereditary ovarian cancer Open
Background: Germline mutations impacting homologous recombination repair (HCR) have been associated with predisposition to breast (BC) and ovarian cancer (OC), and more than 1/5 of OC have hereditary susceptibility (HOC). Other genes than …
View article: Men seeking counselling in a Breast Cancer Risk Evaluation Clinic
Men seeking counselling in a Breast Cancer Risk Evaluation Clinic Open
We observed a high adherence to counselling, genetic testing and active surveillance by men belonging to hereditary BC families. Male carriers of pathogenic DNA variants are at risk for several cancers and should be included in prospective…