0000000000614553
AUTHOR
ÁNgel Segura
showing 2 related works from this author
Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families
2021
(1) Background: Over the last decade, genetic counseling clinics have moved from single-gene sequencing to multigene panel sequencing. Multiple genes related to a moderate risk of breast cancer (BC) have emerged, although many questions remain regarding the risks and clinical features associated with these genes. (2) Methods: Ninety-six BC index cases (ICs) with high-risk features for hereditary breast and ovarian cancer (HBOC) and with a previous uninformative result for BRCA1/2 were tested with a panel of 41 genes associated with BC risk. The frequency of pathogenic variants (PVs) was related to the clinical characteristics of BC. (3) Results: We detected a PV rate of 13.5% (excluding two…
Primitive neuroectodermal kidney tumor
2002
To the Editor: Primitive neuroectodermal tumors (PNET) and Ewing sarcoma (ES) belong to a group of neoplasms de®ned by neuroectodermal differentiation and a characteristic cytogenetic translocation, t(11;22) (q24;q12) or gene rearrangements between chromosomes 21 and 22 [1]. They are generally aggressive tumors that present as metastatic disease in nearly 50% of the cases. ES is frequently a bone disease, whereas PNET can occur in bones, soft tissues, or any other site. Renal PNETs are extremely rare, with only a few cases reported [2]. We here record an adult with renal PNET and bone metastases at diagnosis. Because these tumor can also be found in children [3] our experience may therefore…