Research from K.D. Gonzalez and co-authors reveals new findings on life sciences
2009 JUL 6 - (NewsRx.com) -- According to recent research published in the Journal of Clinical Oncology, " A clinical testing cohort was used to gain a broader understanding of the spectrum of tumors associated with germline p53 mutations to aid clinicians in identifying high-risk families. Patients and Methods Full sequencing of the coding exons ( 2 to 11) and associated splice junctions of the p53 gene was performed on 525 consecutive patients whose blood samples were submitted for diagnostic testing." "Clinical features of p53 germline carriers in this cohort were characterized, clinical referral schemes based on reported p53-associated family phenotypes were evaluated, and practical mutation prevalence tables were generated. Mutations were identified in 91 (17%) of 525 patients submitted for testing. All families with a p53 mutation had at least one family member with a sarcoma, breast, brain, or adrenocortical carcinoma (ACC). Every individual with a choroid plexus tumor ( eight of eight) and 14 of 21 individuals with a childhood ACC had a mutation regardless of family history. Based on reported personal and family history, 95% of patients ( 71 of 75) with a mutation met either classic Li Fraumeni syndrome (LFS) or Chompret criteria. A simplified prevalence table provides a concise summary of individual and family characteristics associated with p53 mutations," wrote K.D. Gonzalez and colleagues. The researchers concluded: " This is, to our knowledge, the largest single report of diagnostic testing for germline p53 mutations, yielding practical mutation prevalence tables and suggesting clinical utility of classic LFS and Chompret criteria for identifying a subset of cancer-prone families with p53 germline mutations, with important implications for diagnosis and management." Gonzalez and colleagues published their study in the Journal of Clinical Oncology (Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families With p53 Germline Mutations. Journal of Clinical Oncology, 2009;27(8):1250-1256). For additional information, contact J.N. Weitzel, City Hope National Med Center, Beckman Research Institute, Dept. of Clinic Cancer Genetics, 1500 E Duarte Rd., Duarte, CA 91010, USA. The publisher's contact information for the Journal of Clinical Oncology is: American Society Clinical Oncology, 2318 Mill Road, Ste. 800, Alexandria, VA 22314, USA. Keywords: United States, Duarte, Life Sciences, Li-Fraumeni Syndrome, Oncology, Sarcoma, P53 Gene, Genomics, Genetics, Diagnostics, Clinical Oncology. This article was prepared by Clinical Oncology Week editors from staff and other reports. Copyright 2009, Clinical Oncology Week via NewsRx.com.
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