1/5. Genetic susceptibility for specific cancers. Medical liability of the clinician.The use of genetic profiling techniques to detect individuals with an increased susceptibility to heritable cancers has provoked recent legal interest in the duties of the attending physician and in the rights of patients and their families. In the current study specific prima facie and recently litigated cases are presented and explored to delineate the issues facing physicians and to illustrate the prerogatives of patients who are caught up in a heritable cancer enigma. Various courts have attempted to answer questions involving lawsuits in which incidents of breast/ovarian carcinoma and colon carcinoma have provoked claims of negligence against health care providers. health care workers involved in the care of these patients have specific duties to these individuals. It would appear that physicians are being forced to assume the additional duty of delving into a patient's family history of cancer through multiple generations. This duty is followed by a responsibility to provide detailed counseling to those patients in whom such activity impacts the diagnosis and management of familial cancer.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
2/5. Risk in numbers--difficulties in the transformation of genetic knowledge from research to people--the case of hereditary cancer.Difficulties in communicating diagnostic information are exacerbated when the 'diagnosis' is a 'genetic risk' for cancer. The risk estimation demanded in this situation differs from other types of probability estimations. Observations of participants in 45 consultation sessions between physicians and potential patients were conducted at a clinic for hereditary cancer to explore the communication of genetic information. Thirty-three sessions were audiotaped, transcribed verbatim and analyzed, along with notes from the other sessions. A dominant theme was found to be numerical discussion of risk. Further analysis resulted in the description of problems for practitioners in the process of translating scientific knowledge into clinical management. Problems in providing information include unclear aims of the consultation sessions, mixing various types of background information and probabilities, recognizing how low the predictive values are, and difficulties in communicating the relationship between probability and conclusions. Problems in communicating information about the genetic risk for cancer are of at least two types: dilemmas arising from uncertainties implicit in the nature of the information itself and difficulties in communicating information in a manner that those concerned can interpret. These issues need clarification, so that information with far-reaching consequences can be made as clear and comprehensible as possible for those involved.- - - - - - - - - - ranking = 0.33333333333333keywords = physician (Clic here for more details about this article) |
3/5. Linking human genetics with molecular medicine: will hereditary renal cancer play a major role?An inherited or familial predisposition to form kidney tumors represents less than 4% of all renal malignancies. However, hereditary renal cancer (HRC) syndromes offer important opportunities for gene discovery and function. Basic and clinical HRC investigation often provides unique insight into regulation of cell growth, cell proliferation, tumor invasion and metastasis. The genetics, biochemistry and physiology of renal tumorigenesis has been directly impacted and significantly expanded by HRC research over the last ten years. Mutations have been identified in several genes tightly linked to increased risk for development of renal cancer. Inheritance of these mutated genes causes specific hereditary syndromes often associated with clinically significant nonrenal manifestations. Molecular and biochemical alterations of most HRC gene products are also detected in sporadic renal cancer emphasizing the importance of HRC gene function in nonhereditary carcinogenesis. Despite these important molecular findings, the clinical contribution of HRC research has generally been limited to genetic screening and prognostic assessment. HRC patients and their physicians continue to face difficult decisions regarding cancer control and quality of life despite advances in minimally invasive surgical and radiological techniques. The ultimate challenge for clinicians and scientists will be translation of molecular and genetic research into clinical tools that impact diagnosis, treatment and prevention. This bench to bedside report describes the diagnosis, genetics, pathophysiology and current cancer treatment options available for HRC syndromes.- - - - - - - - - - ranking = 0.33333333333333keywords = physician (Clic here for more details about this article) |
4/5. Successful infertility treatment in a cancer patient with a significant personal and family history of cancer.BACKGROUND: infertility can be a devastating problem for a couple desperate to conceive. Unfortunately, these same women with infertility also bear the burden of an increased risk of ovarian and breast cancer. We present a case of a woman with infertility who persevered despite a personal and family history of cancer to achieve her goal of having a family. Case: The patient's father had died of breast cancer at an early age. The patient had been unsuccessfully treated for infertility elsewhere before transferring to our institution. A diagnostic laparoscopy revealed an early ovarian cancer treated by oophorectomy only. RESULTS: After a period of observation, infertility treatment was resumed, leading to the successful cesarean delivery of triplets. Although recurrent ovarian cancer was diagnosed at delivery, the patient remains disease free, with three healthy children, 4 years after optimal tumor reductive surgery for stage IC low malignant potential ovarian cancer. CONCLUSIONS: infertility patients with significant cancer issues may achieve a term delivery and remain disease free for a meaningful length of time with the assistance of their physicians.- - - - - - - - - - ranking = 0.33333333333333keywords = physician (Clic here for more details about this article) |
5/5. Juvenile renal cell carcinoma as first manifestation of von hippel-lindau disease.Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome characterized by germline mutations in the VHL tumor suppressor gene located at chromosome 3p25-26 and pleomorphic clinical picture. The major clinical manifestations include retinal angiomas, central nervous system hemangioblastomas, pheopleochromocytoma, pancreatic cysts, epididymal cystoadenomas and renal lesions. Recently, we observed a 58-year-old male patient with macrohematuria and a history of nephrectomy due to renal cell carcinoma (RCC). The patient showed retinal angiomatosis, cerebellar hemangioblastomas, multiple pancreatic cysts, right kidney with polycystic features plus two RCC. The patient's offspring, two females and one male, showed VHL lesions, such as retinal angiomatosis, cerebellar hemangioblastomas and polycystic kidney disease (PKD). The affected family members were screened for mutations in the VHL gene. Data suggested the presence of a deletion encompassing exon 1 of the VHL gene. early diagnosis of VHL disease in patients and their relatives is important for clinical and geneticreasons. VHL disease patients have an increased incidence of malignant carcinomas and the syndrome can mimic the presentation of other cystic kidney diseases. early diagnosis and molecular genetic testing of family members is essential to improve the clinical management of patients and to allow an accurate risk assessment in asymptomatic individuals. In conclusion, nephrologists and urologists must carefully evaluate patients with PKD and RCC to confirm or exclude VHL disease, and physicians must play a crucial role in the clinical process of therapeutical decisions and choices for VHL patients.- - - - - - - - - - ranking = 0.33333333333333keywords = physician (Clic here for more details about this article) |