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germline mutation
A gene change in the body's reproductive cells (egg or sperm) that becomes incorporated into the DNA of every cell in the body of offspring; germline mutations are passed on from parents to offspring. Also called hereditary mutation. (National Cancer Institute)
Hrthle (Oncocytic) Cell Tumors of Thyroid: Etiopathogenesis ... Feb 26, 2005
Botelho T, Capela J, Soares P, Lima J, Taveira A, Amaro T, Barbosa AP, Prelo A, Harach HR, Williams D, Sobrinho-Simes M. Somatic and germline mutation in GRIM ... RedNova.com,
Smoking Cessation Should be Stressed in Patients with HNPCC Feb 14, 2005
The cohort included germline mutation carriers of hMLH1 or hMSH2, with researchers focused on associations between smoking and phenotypic variances. ... Cancer Consultants (press release),
Archives: The following articles may no longer be available on the web. If you want to inquire on a particular article, please contact the source publication (listed in parentheses).
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Copyright © 2004 by The Endocrine Society Jul 7, 2004
...also studied the cosegregation of somatic RET gene mutation and G691S polymorphism as well as the linkage of the polymorphism with RET germline mutation in 60 ... Journal of Clinical Endocrinology and Metabolism -
Heritable Mutations Linked to Pollution Jun 8, 2004
...each field site. After 9 weeks, the mice were bred and germline mutation rates at certain DNA loci were compared. The offspring ... JAMA -
Resources from the National Cancer Institute on germline mutation:
Papillary Renal Cell Carcinoma: Analysis of Germline Mutations in ... File Format: PDF/Adobe Acrobat - View as HTML ... The germline mutation rate in this clinic-based population of individuals with
PRCC approaches 0% (CI 5 0–6.18). ... Why were no germline mutations detected? ...
Sporadic Multiple Primary Melanoma Cases: CDKN2A Germline ... File Format: PDF/Adobe Acrobat - View as HTML ... RESULTS Analysis of CDKN2A and CDK4 Genes We detected a CDKN2A germline mutation
in nine out of 100 (9%) patients selected (Table 2). These mutations were a ...
Improved Detection of Germline Mutations in the von Hippel-Lindau ... File Format: PDF/Adobe Acrobat - View as HTML ... KEY WORDS: von Hippel-Lindau disease; germline mutation; pheochromocytoma; renal
cell carci- noma; Southern blotting INTRODUCTION von Hippel-Lindau disease (VHL ...
Ovarian Cancer Prevention Workshop Executive Summary - Breast and ... It is not clear that preventive strategies that reduce ovarian cancer in germline
mutation carriers will also be beneficial in the prevention of sporadic ...
Division of Cancer Epidemiology And Genetics (DCEG): Branches ... Examples are the identification of Li-Fraumeni family cancer syndrome which led
to its link to germline mutation of the gene, p53; and delineation of the ...
Abstract: PATERNAL EXPOSURE AND SPORADIC BILATERAL RETINOBLASTOMA In the proposed study, we will investigate sporadic heritable RBL in
its own right and as a model for new germline mutation. Sporadic ...
CGN - Modifiers of Penetrance in BRCA1 and BRCA2 Women who carry germline mutations in BRCA1 or BRCA2 (BRCA1/2) have
an elevated lifetime risk of developing breast or ovarian cancer. ...
Germline splicing mutations of CDKN2A predispose to melanoma File Format: PDF/Adobe Acrobat - View as HTML ... We andothers have sequencedthe nearby CDKN2B gene (encoding p15 INK4B ), but have
observedno germline mutations of this candidate gene in melanoma-bearing ...
Abstract: INHERITED MSH6 MUTATIONS IN DIVERSE COLORECTAL CANCERS Additionally, family members of MSH6 carriers will be evaluated for the germline
mutation, and their available tumor blocks will be examined for MSI. ...
Cancer.gov - Ovarian Epithelial Cancer (PDQ®): Treatment 7] The lifetime risk for developing ovarian cancer in patients harboring germline
mutations in BRCA1 is substantially increased over the general population.[8,9 ...
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