In 2012, a thought experiment in this journal suggested that paternity cases involving monozygotic (MZ) twins as putative fathers could be solved by means of whole genome sequencing (WGS). Although arising from single fertilization event, MZ nevertheless continue to acquire somatic mutations during their development, including those occur the germline. Provided had been narrowed down twin pair ...

Succinate dehydrogenase (SDH), which is located on the mitochondrial inner membrane, is essential to the Krebs cycle. Mutations of the SDH gene are associated with many tumors, such as renal cell carcinoma, wild type gastrointestinal stromal tumors (WT GISTs) and hereditary paragangliomas/pheochromocytomas. Herein we present a rare case diagnosed as a WT GIST complicated with a renal chromophob...

............................................................................................................................9 INTRODUCTION ..................................................................................................................11 REVIEW OF THE LITERATURE ........................................................................................13 1 General features of ova...

to increased resistance to apoptosis and carcinogenesis. To our knowledge, this mutation has not been previously described. The known mutations of the CYLD gene are mostly located in the C-terminal portion. Germline mutations display tissue-specific function loss. Another possibility would be that the germline mutation determines the tissues where the preferred second hit occurs. When the secon...

Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, keratocystic odontogenic tumors of the jaws, and diverse developmental defects. This disorder is associated with mutations in tumor suppressor gene Patched 1 (PTCH1). We present two patients with Gorlin syndrome, one sporadic and one familial. Clinical ex...

We describe an efficient method for generating female germline mosaics by inducing site-specific homologous mitotic recombination with a yeast recombinase (FLP) which is driven by a heat shock promoter. These germline mosaics are produced in flies heterozygous for the agametic, germline-dependent, dominant female sterile (DFS) mutation ovoD1, where only flies possessing germline clones are able...

Methods Patients referred to our institution for either primary or recurrent rectal cancer between 1992-2010 were identified based on following inclusion criteria: 1) pathogenic germline mutation in DNA mismatch repair genes (MMR; n=19); 2) germline variants of uncertain significance but tumor studies suggestive of MMR (n=6); 3) suggestive tumor studies but negative germline testing (n=5); and ...

Breast cancer (BC) is not a typical manifestation of Lynch syndrome. The existence and extent excessive breast risk in carriers pathogenic mutations the syndrome-associated genes (MLH1, MSH2, MSH6, PMS2) remains an open question. In addition, it known that some neoplasms patients with this syndrome are causally linked to hereditary mutation, arise completely independently defect gene DNA mismat...

PURPOSE Prostate cancer risk is increased for men carrying a pathogenic germline mutation in BRCA2, and perhaps BRCA1. Our primary aim was to test for loss of heterozygosity (LOH) at the locus of the mutation in prostate cancers from men who a carry pathogenic germline mutation in BRCA1 or BRCA2, and to assess clinical and pathologic features of these tumors. EXPERIMENTAL DESIGN From 1,243 kC...

Human minisatellite MS32 (D1S8) shows instability both in the germline and, at much lower levels, in somatic DNA. To investigate factors that influence somatic and germline mutation, large cosmid-based constructs containing MS32 were introduced into mice, bred to homozygosity and tested for instability in blood and sperm. Analysis of single copy and multicopy transgenic lines revealed somatic m...