National Cancer Institute®
Last Modified: April 1, 2002
UI - 11899542
AU - Krutilkova V; Havlovicova M; Goetz P
TI - [Specialized genetic counseling in pediatric and adult oncology patients]
SO - Cas Lek Cesk 2002;141(1):23-7
AD - Ustav biologie a lekarske genetiky 2. LF UK a FNM, Praha. firstname.lastname@example.org
Five to ten percent of oncological diseases exhibit monogenic mode of inheritance. They occur as a consequence of the germline mutations of tumor suppressor genes and of the genes engaged in reparative processes. Most common monogenically determined oncological diseases are: AD form of breast and ovarian cancer, hereditary nonpolyposis colorectal cancer (HNPCC, Lynch sy.) and familiar adenomatous polyposis (FAP). The aim of the genetic investigation is to evaluate whether the index family deals with the hereditary form of tumor predisposition, than, if possible, to perform DNA analysis in the family and to propose preventive screening program (methods) for the probands in risk.
UI - 11902578
AU - Soussi T; Beroud C
TI - Assessing TP53 status in human tumours to evaluate clinical outcome.
SO - Nature Rev Cancer 2001 Dec;1(3):233-40
AD - Institut Curie, Universite P. & M. Curie, Laboratoire de Genotoxicologie des Tumeurs, Paris, France. email@example.com
TP53 is probably the most extensively studied tumour-suppressor gene, and patients with TP53 mutations are known to have a poor outcome. However, inconsistencies in the analysis of TP53 status, and failure to realize that different mutations behave in different ways, prevent us from effectively applying our vast knowledge of this protein in clinical practice. What simple steps can be taken to ensure that patients benefit from our understanding of TP53?
UI - 11854072
AU - Patrikidou A; Bennett J; Abou-Sleiman P; Delhanty JD
TI - Comment on: S.S. Prime et al. "A review of inherited cancer syndromes and their relevance to oral squamous cell carcinoma" Oral Oncology 2001;37(1), 1-16.
SO - Oral Oncol 2002 Feb;38(2):216-7
UI - 11160785
AU - Eng C; Hampel H; de la Chapelle A
TI - Genetic testing for cancer predisposition.
SO - Annu Rev Med 2001;52():371-400
AD - Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210, USA. firstname.lastname@example.org
Clinical cancer genetics is becoming an integral part of the care of cancer patients. This review describes the clinical aspects, genetics, and clinical genetic management of most of the major hereditary cancer susceptibility syndromes. Multiple endocrine neoplasia type 2, von Hippel-Lindau disease, and familial adenomatous polyposis are examples of syndromes for which genetic testing to identify at-risk family members is considered the standard of care. Genetic testing for these syndromes is sensitive and affordable, and it will change medical management. Cancer genetic counseling and testing is probably beneficial in other syndromes, such as the hereditary breast cancer syndromes, hereditary nonpolyposis colorectal cancer syndrome, Peutz-Jeghers syndrome, and juvenile polyposis. There are also hereditary cancer syndromes for which testing is not yet available and/or is unlikely to change medical management, including Li-Fraumeni syndrome and hereditary malignant melanoma. Thorough medical care requires the identification of families likely to have a hereditary cancer susceptibility syndrome for referral to cancer genetics professionals.
UI - 11770299
AU - Kimmelman A; Liang BC
TI - Familial neurogenic tumor syndromes.
SO - Hematol Oncol Clin North Am 2001 Dec;15(6):1073-84
AD - Mount Sinai-NYU Medical Center and Health Systems, Derald H. Ruttenberg Cancer Center, New York, New York, USA.
Cancer caused more than 0.5 million deaths in the United States in 2000. This estimate includes patients who have a genetic predisposition to neoplastic disease, including brain neoplasms. Familial tumor syndromes are important to identify clinically because family members require high degrees of monitoring and genetic counseling. Study of these individuals and families has led to the discovery of genes that are an intrinsic aspect of cell regulation and will continue to be relevant in defining mechanisms of neoplastic development in brain and other tissues.
UI - 11920788
AU - Schaefer KL; Wai D; Poremba C; Diallo R; Boecker W; Dockhorn-Dworniczak
TI - B Analysis of TP53 germline mutations in pediatric tumor patients using DNA microarray-based sequencing technology.
SO - Med Pediatr Oncol 2002 Apr;38(4):247-53
AD - Gerhard-Domagk-Institute of Pathology, Westfalische Wilhelms-University, Domagkstrasse 17, 48149 Munster, Germany.
BACKGROUND: Whereas in sporadic human malignancies mutations of the TP53 tumor-suppressor gene occur in cancers of almost every organ and histologic subtype, patients with an inborn TP53 defect are at high risk to develop, in particular, soft tissue and bone sarcomas, brain tumors, leukaemias, adrenocortical tumors, and breast cancer. To demonstrate the usefulness of microarray technology applied to TP53 sequencing in pediatric tumors, we investigated young patients suffering from tumors typical of the Li-Fraumeni context who were, therefore, candidates for harboring inborn defects in tumor-suppressor genes. PROCEDURE: Six individuals were studied, including typical Li-Fraumeni patients as well as patients without any family history of cancer. DNA samples were independently analyzed for TP53 mutations by GeneChip and standard automated laser fluorescence (ALF) sequencing technology. RESULTS: The tumor and corresponding constitutional DNA samples clearly showed identical mutations which were confirmed by ALF sequencing. All coding exons (exons 2-11) of TP53 were analyzed simultaneously. The entire sequencing procedure and data analysis was carried out within 24 hr. CONCLUSIONS: The GeneChip TP53-sequencing assay may be feasible for routine molecular genetic diagnostics in determining the TP53 status of childhood-tumor patients and in enabling a disease management based on the genetic background of the individual. Copyright 2002 Wiley-Liss, Inc.
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