Germ-Line Mutation
Research News and Information

Tuesday, November 24, 2009

De novo germline TP53 mutation presenting with synchronous malignancies of the central nervous system.

13 Dec 2009 We present a case of a 14-year-old male with a germline TP53 mutation who presented with synchronous primitive neuroectodermal tumor and choroid plexus carcinoma. Identification of synchronous brain tumors prompted genetic testing for predisposition ... Read more...

Carcinoma of the breast with medullary-like features: diagnostic challenges and relationship with BRCA1 and EZH2 functions.

30 Oct 2009 This case presentation reviews the histologic distinction between pure medullary carcinoma and breast carcinomas with medullary-like features. This particular case prompts us to analyze the relationship among medullary carcinoma, basal-like breast ... Read more...

Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast-ovarian cancer syndromes: a case report.

30 Oct 2009 The simultaneous occurrence of mutations in two different tumor suppressor genes in the same individual is a very rare event. Here we report the case of a woman in whom germline mutations in both MEN1 and BRCA1 were identified. The severity of ... Read more...

Latest indexed articles for 'Germ-Line Mutation'

These are the very latest articles for this heading:

• De novo germline TP53 mutation presenting with synchronous malignancies of the central nervous system. 13 Dec 2009
• Carcinoma of the breast with medullary-like features: diagnostic challenges and relationship with BRCA1 and EZH2 functions. 30 Oct 2009
• Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast-ovarian cancer syndromes: a case report. 30 Oct 2009
• Risk of pancreatic cancer in families with Lynch syndrome. 26 Oct 2009
• Gene expression profiling integrated into network modelling reveals heterogeneity in the mechanisms of BRCA1 tumorigenesis. 18 Oct 2009
• Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution. 6 Oct 2009
• Scientists probe method to prevent inherited mitochondrial gene diseases. 5 Oct 2009
• Differential utilization of T cell receptor TCRalpha/TCRdelta locus variable region gene segments is mediated by accessibility. 26 Sep 2009
• PARP inhibitors: will the new class of drugs match the hype? 6 Sep 2009
• Anesthetic consideration for radiofrequency ablation of a suspected paraganglioma metastasis in a child. 30 Aug 2009
• Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients. 30 Aug 2009
• Oral rapamycin reduces tumour burden and vascularization in Lkb1(+/-) mice. 30 Aug 2009
• Mutation-independent anaplastic lymphoma kinase overexpression in poor prognosis neuroblastoma patients. 30 Aug 2009
• Inherited susceptibility to pediatric acute lymphoblastic leukemia. 30 Aug 2009
• Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening? 30 Aug 2009
• New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease. 15 Aug 2009
• Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 14 Aug 2009
• Germline genomic variants associated with childhood acute lymphoblastic leukemia. 14 Aug 2009
• Identification and characterization of a novel germline p53 mutation in a patient with glioblastoma and colon cancer. 13 Aug 2009
• Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene. 12 Aug 2009

See a longer list of these articles.

Technical information about 'Germ-Line Mutation'

Definition: Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.

Descriptor UI: D018095

Alternative terms: Germ-Line Mutation; Germ Line Mutation; Germline Mutation; Germline Mutations; Mutation, Germline; Mutations, Germline; Mutation, Germ-Line; Germ-Line Mutations; Mutation, Germ Line; Mutations, Germ-Line;

Allowable Qualifiers: drug effects; genetics; immunology; physiology; radiation effects; ethics;

Tree Number: G05.365.590.350;

History Note: 94

Technical Notes: germ-line refers to germ cells (ovum or spermatozoon), not micro-organisms