Testicular cancer is the most common cancer affecting young men and, like many other adult-onset cancers, multiple-case families do occur. The genetic architecture of familial and sporadic cancers often differs, with rare, highly-penetrant mutations causing the former, and multiple common low-penetrance genetic variants underlying the latter. The study by Kratz and colleagues investigated familial testicular […]
Month: March 2012
Chromosome fragility in Fanconi anemia patients: diagnostic implications and clinical impact
Fanconi anemia (FA) is a rare syndrome characterized by bone marrow failure, malformations, and cancer predisposition. Chromosome fragility induced by DNA interstrand crosslink (ICL)-inducing drugs is the gold standard diagnostic test for FA. We present data from 198 chromosome fragility tests and propose a new chromosome fragility index that provides a cut-off diagnostic level to […]
Maternally transmitted late-onset nonsyndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene
A specific genetic defect in one Chinese family shows that hearing loss was inherited from the female parent. The defect results from a point mutation — the substitution of a single DNA “base” for another during replication — in the genes of a tiny cellular organ called the mitochondria, which generates a cell’s energy. When […]