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Sensitivity and predictive value of criteria for p53germline mutation screening

Sensitivity and predictive value of criteria for p53germline mutation screening Letters 43 Letters to the Editor J Med Genet 2001;38:43–47 typifying LFS, but not selected on family history, to deter- Sensitivity and predictive value of mine the proportion of gene carriers among them. The 25–29 criteria for p53 germline mutation studies on patients with bone sarcoma or STS showed that up to a third of the group with early onset, an unusual screening family history, or multiple primary tumours may be carri- ers. Children with adrenocortical carcinoma were found to 30 31 have the highest rate (50-80%). The frequency of EDITOR—The history of Li-Fraumeni syndrome (LFS) is a mutations among patients with multiple primary tumours 32–34 was estimated to be between 7 and 20%. Far lower rates good illustration of the delineation of dominantly inherited 35–39 were found for patients with brain tumours, or early family cancer syndromes. The identification of this 40–43 onset/familial breast cancer, although the breast cancer syndrome is the result of the combination of two kinds of risk was clearly high in p53 mutation carriers. In some of evidence, firstly, a number of reports on particular familial these studies, a selection bias on family history may be sus- aggregations and, secondly, systematic family studies of http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Medical Genetics British Medical Journal

Sensitivity and predictive value of criteria for p53germline mutation screening

Sensitivity and predictive value of criteria for p53germline mutation screening

Journal of Medical Genetics , Volume 38 (1) – Jan 1, 2001

Abstract

Letters 43 Letters to the Editor J Med Genet 2001;38:43–47 typifying LFS, but not selected on family history, to deter- Sensitivity and predictive value of mine the proportion of gene carriers among them. The 25–29 criteria for p53 germline mutation studies on patients with bone sarcoma or STS showed that up to a third of the group with early onset, an unusual screening family history, or multiple primary tumours may be carri- ers. Children with adrenocortical carcinoma were found to 30 31 have the highest rate (50-80%). The frequency of EDITOR—The history of Li-Fraumeni syndrome (LFS) is a mutations among patients with multiple primary tumours 32–34 was estimated to be between 7 and 20%. Far lower rates good illustration of the delineation of dominantly inherited 35–39 were found for patients with brain tumours, or early family cancer syndromes. The identification of this 40–43 onset/familial breast cancer, although the breast cancer syndrome is the result of the combination of two kinds of risk was clearly high in p53 mutation carriers. In some of evidence, firstly, a number of reports on particular familial these studies, a selection bias on family history may be sus- aggregations and, secondly, systematic family studies of

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Publisher
British Medical Journal
Copyright
Journal of Medical Genetics
ISSN
0022-2593
eISSN
1468-6244
DOI
10.1136/jmg.38.1.43
Publisher site
See Article on Publisher Site

Abstract

Letters 43 Letters to the Editor J Med Genet 2001;38:43–47 typifying LFS, but not selected on family history, to deter- Sensitivity and predictive value of mine the proportion of gene carriers among them. The 25–29 criteria for p53 germline mutation studies on patients with bone sarcoma or STS showed that up to a third of the group with early onset, an unusual screening family history, or multiple primary tumours may be carri- ers. Children with adrenocortical carcinoma were found to 30 31 have the highest rate (50-80%). The frequency of EDITOR—The history of Li-Fraumeni syndrome (LFS) is a mutations among patients with multiple primary tumours 32–34 was estimated to be between 7 and 20%. Far lower rates good illustration of the delineation of dominantly inherited 35–39 were found for patients with brain tumours, or early family cancer syndromes. The identification of this 40–43 onset/familial breast cancer, although the breast cancer syndrome is the result of the combination of two kinds of risk was clearly high in p53 mutation carriers. In some of evidence, firstly, a number of reports on particular familial these studies, a selection bias on family history may be sus- aggregations and, secondly, systematic family studies of

Journal

Journal of Medical GeneticsBritish Medical Journal

Published: Jan 1, 2001

References