A thorough family history evaluation remains a critical tool that helps identify those patients who are at risk for hereditary cancer. The American College of Obstetricians and Gynecologists (ACOG) recommends that all women receive a family history evaluation to screen for inherited risk, and that this information be regularly updated. Patients with an abnormal cancer family history need additional follow-up that may include hereditary cancer testing. Multigene panel testing provides comprehensive profiling for hereditary cancer patients by identifying more health risks than single genome testing. If hereditary cancer is established, patients should be counseled about management options, including increased surveillance, chemoprevention, and/or surgery. Establishing workflow protocols may help clinicians integrate hereditary cancer risk assessment into their practice.
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http://dx.doi.org/10.1016/j.ajog.2014.08.023 | DOI Listing |
Pathologica
October 2024
Division of Experimental Oncology, Istituto Europeo di Oncologia, IRCCS, Milano.
Objective: Prostate cancer (PCa) is the most common cause of cancer-related deaths in men worldwide. BRCA1/2 genes are reported altered in approximately 1% and 8% of PCa cases, respectively. To date, formalin-fixed paraffin-embedded (FFPE) tissues have a consolidate use in the clinical practice, but with a significant drawback related to DNA/RNA degradation during the pre-analytical process.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Department of General Surgery, The Fourth Affiliated Hospital, China Medical University, Shenyang, Liaoning, China.
Background: Lynch syndrome (LS) is an autosomal-dominant disorder that increases the risk of many cancers. To identify novel or rare pathogenic variants of MMR genes associated with LS, especially in Chinese pedigrees.
Methods: One four-generation Chinese Han family from northeast China with 29 members was enrolled.
J Clin Endocrinol Metab
January 2025
Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ), and University of Zurich (UZH), CH-8091 Zurich, Switzerland.
Context: Pheochromocytomas and paragangliomas (PPGLs) are rare endocrine tumors that frequently produce catecholamines. Catecholamine-induced cardiometabolic complications substantially contribute to increased morbidity and mortality in PPGL patients prior to surgical resection.
Objective: To determine whether markers of elevated cardiometabolic risk persist in patients following PPGL resection.
Female breast cancer is the most common and the fifth deadliest cancer worldwide. It is influenced by a combination of genetic, hormonal, and environmental factors. The excision repair cross-complementation group 3 gene () has recently been identified as a breast cancer susceptibility gene in various cohorts of different geographical and ethnic origin.
View Article and Find Full Text PDFFront Oncol
December 2024
Oncoclinicas (OC) Medicina de Precisão (OCPM), São Paulo, Brazil.
Introduction: The prevalence of germline pathogenic/likely pathogenic variants (P/LP) in high and moderate penetrance (HMP) genes is approximately 7%-10% among breast cancer (BC) patients. The prevalence and spectrum of BC P/LP variants are affected by several factors. There are limited genetic data from Brazilian patients with BC.
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