Approximately 5-10% of cancers are caused by an inherited predisposition. Individuals affected by hereditary cancer are often concerned about transmitting a predisposition to cancer to their children. Preimplantation genetic diagnosis (PGD) is a technology that allows embryos without a deleterious mutation associated with a hereditary cancer syndrome to be identified and implanted. The aim of this study is to assess the knowledge, attitudes, and clinical experience of physicians regarding PGD for hereditary cancer predisposition syndromes. Hereditary Breast and Ovarian Cancer (HBOC) and Familial Adenomatous Polyposis (FAP) are two hereditary cancer syndromes highlighted in this present study. A survey assessing physicians' attitudes, knowledge, and clinical practice was completed by a total of 373 gynecologic oncologists (GYN ONCs) and obstetrics and gynecologists (OB/GYNs). Physicians had a limited knowledge of PGD for hereditary cancer; however, physicians reported PGD was an appropriate option for patients with either HBOC or FAP. Although GYN ONCs were more likely to care for patients with hereditary cancer (P < 0.001), they were less likely than OB/GYNs to refer their patients to a PGD specialist (P = 0.004). While 80% of GYN ONCs and 91% of OB/GYNs would refer patients to a PGD specialist, clinical experience indicates that only 29% actually referred their patients. Since 68% of physicians had incorrect or limited knowledge of PGD for hereditary cancer, there is a need for additional education.
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http://dx.doi.org/10.1007/s10689-010-9343-8 | DOI Listing |
Exposome
February 2024
MRC Centre for Environment and Health, School of Public Health, Imperial College, London, UK.
The exposome was proposed following the realization that most human diseases have an environmental rather than a genetic (hereditary) origin. Non-communicable diseases are, in fact, the consequence of multiple exposures that activate a sequence of stages in a multistage process that already starts in early life. This attracted attention to both the multiplicity (in fact, potentially the totality) of exposures humans are exposed to since conception and to the life-long perspective of disease causation.
View Article and Find Full Text PDFCureus
December 2024
Gastrointestinal Bleeding Center, Cleriston Andrade General Hospital, Feira de Santana, BRA.
Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by the progressive development of multiple adenomatous polyps along the colon. The majority of individuals develop colorectal cancer by the age of 40 within the evolutionary course of the disease. For this reason, screening family members is essential to enable identification, surveillance, and appropriate intervention.
View Article and Find Full Text PDFCureus
December 2024
Internal Medicine, University of Florida College of Medicine, Pensacola, USA.
Extra-adrenal pheochromocytomas are rare neuroendocrine tumors originating outside the adrenal glands and can pose significant diagnostic challenges due to their variable presentations. This report highlights a case of an extra-adrenal pheochromocytoma masquerading as a pancreatic head malignancy. We underscore the importance of considering extra-adrenal pheochromocytoma in the differential diagnosis of pancreatic masses, particularly when biochemical or clinical features suggest catecholamine excess.
View Article and Find Full Text PDFBr J Haematol
January 2025
Oncogenesis and Development Section, Translational and Functional Genomics Branch (TFGB), National Human Genome Research Institute (NHGRI), Bethesda, Maryland, USA.
Sci Rep
January 2025
Graduate Course in Medicine (Pathological Anatomy), Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Muscular dystrophies (MD) are a group of hereditary diseases marked by progressive muscle loss, leading to weakness and degeneration of skeletal muscles. These conditions often result from structural defects in the Dystrophin-Glycoprotein Complex (DGC), as seen in Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Since MDs currently have no cure, research has focused on identifying potential therapeutic targets to improve patients' quality of life.
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