Pheochromocytomas (PCCs) are rare tumors that arise from chromaffin tissue in the adrenal medulla, but can also occur in the abdomen outside the adrenals and are then called sympathetic paragangliomas (sPGLs). According to the literature, between 15 and 25% of apparently sporadic adrenal PCC and sPGL are caused by germline mutations in RET, von Hippel-Lindau disease (VHL), succinate dehydrogena...

Germline mutations in BRCA1, BRCA2 and TP53 genes have been identified as one of the most important disease-causing issues in young breast cancer patients worldwide. The specific defective biological processes that trigger germline mutation-associated and -negative tumors remain unclear. To delineate an initial portrait of Brazilian early-onset breast cancer, we performed an investigation combi...

The diversity of the immune repertoire is important for the adaptive immune system's ability to detect pathogens. Much of this diversity is generated in two steps, first through the recombination of germline gene segments and second through hypermutation during an immune response. While both steps are to some extent based on the germline level repertoire of genes, the final structure and select...

HUMAN KURU Infection through ritualistic cannibalism Iatrogenic Creutzfeld Jacob (iCJD) Infection from prion-contaminated HGH, dura mater grafts,etc. Variant CJD (vCJD) Infection from bovine prions? Familial CJD Germline mutations in PrP gene Gerstmann-Straussler-Scheinker Germline mutations in PrP gene Disease Fatal Familial Insominia Germline mutations in PrP gene (D178N and M129) Sporadic CJ...

The demand for genetic testing (GT) prostate cancer (PCa) is expanding, but there limited knowledge about the counseling (GC) needs of men. A strong-to-moderate inherited predisposition causes approximately 5–20% (PCa). In men with cancer, germline may benefit patient by informing treatment options, and if a mutation noticed, it also guide screening other cancers have family implications cascad...

A 46 year old lady presented to her general practitioner with recurrent urinary tract infections. She was subsequently diagnosed a left sided exophytic renal tumour. Subsequent nephrectomy revealed oncocytic tumour which raised clinical concern for the hereditary syndrome of Birt Hogg Dube Syndrome (BHDS). The only family history note cousin who has cysts. Tumour genomic testing somatic mutatio...

Multiple endocrine neoplasia type 1 (MEN1) and von Hippel-Lindau (VHL) are autosomal-dominant diseases caused by germline mutations in tumor-suppressor genes. A patient with a germline MEN1 mutation and a somatic VHL mutation in the tumor has not been reported. Herein, we report on a patient with MEN1 and a metastatic nonfunctioning pancreatic neuroendocrine tumor (PNET) with a somatic VHL muta...

We have investigated a family in which three siblings with the autosomal dominant disorder tuberous sclerosis had unaffected parents. The family were typed for polymorphic markers spanning the two genes known to cause tuberous sclerosis located at 9q34 (TSC1) and 16p13.3 (TSC2). TSC1 markers showed different maternal and paternal haplotypes in affected children, excluding a mutation in TSC1 as ...

Germline mutations in TP53 are the underlying defect of Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome, autosomal dominant disorders characterized by predisposition to multiple early onset cancers. In Brazil, a variant form of LFS/LFL is commonly detected because of the high prevalence of a founder mutation at codon 337 in TP53 (p.R337H). The p53 protein exerts multiple roles in...

The MutY human homologue (MYH) gene encodes a member of the base excision repair pathway that is involved in repairing oxidative damage to DNA. Two germline MYH gene mutations that result in Myh proteins containing amino acid substitutions Y165C and G382D (hereafter called the Y165C and G382D mutations) are associated with adenomatous poly-posis and colorectal cancer among patients from several...