Current recommendations for APC mutation analysis in patients with familial adenomatous polyposis (FAP) advise full gene sequencing and gene dosage analysis replacing the protein truncation test (PTT) as a pre-screening tool. Here we report on two unrelated patients with classical FAP and unremarkable family history in whose leukocyte-derived DNA no pathogenic APC mutations could be […]
Latest articles
Determining the frequency of de novo germline mutations in DNA mismatch repair genes
People, who carry a mutation in a DNA mismatch repair (MMR) gene i.e. people with Lynch syndrome, have a high risk of bowel, uterus and several other cancers. The proportion of these people whose mutation is de novo (not inherited from either parent) is not known. In this paper, we report six bowel cancer cases […]
A role for XRCC2 gene polymorphisms in breast cancer risk and survival
Breast cancer can be caused by inherited changes in two major genes, BRCA1 and BRCA2, which can have devastating consequences, causing several cases of breast cancer in the same family. BRCA1 and BRCA2 code for proteins that are important for the repair of damaged DNA. In this study we have examined the effects of another […]
Replacement of the myotonic dystrophy type 1 CTG repeat with “non-CTG repeat” insertions in specific tissues
One of the most mutation-prone sequences is the variable number of repeating DNAs at the myotonic dystrophy (DM1) gene, causing muscular dystrophy. In DM1 individuals the mutant gene has an expansion of a repeated DNA sequence CTG CTG CTG to hundreds or thousands of repeats. We report a new kind of mutation at the DM1 […]
Chromosomes do it by halves
Extra/missing chromosomes are the leading cause of mental retardation, pregnancy loss and IVF failure. Most arise in the egg however the mechanism by which errors occur is under debate. Normally, each chromosome of a pair migrates to opposite cell poles before cell division (disjunction); the textbook dogma suggests that errors occur when two chromosomes migrate […]
Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour
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 […]
Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease
Mendelian diseases for which a single mutation can be identified in a given patient may be characterized by genetic heterogeneity if different patients bear mutations in several different genes. We demonstrate through simulations that a statistical approach (called S/EmpP) can more easily identify chromosomal regions likely to bear mutations in the context of genetic heterogeneity […]
Follow Journal of Medical Genetics on Twitter
JMedGeneticsBMJ @JMedGeneticsBMJ http://twitter.com/#!/JMedGeneticsBMJ Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics. http://jmg.bmj.com […]
The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells
Cystinosis is a debilitating, potentially fatal, inherited metabolic disease. The major genetic defect is a large (57-kb) deletion on chromosome 17 that removes the majority of a cystine transporter gene (CTNS). To find other genes that may also play a role in cystinosis, we collected blood cells from cystinosis families and examined the level of […]
FOXN1 mutation abrogates prenatal T-cell development in humans
For the first time it has been identified in humans that a genetic alteration of the protein FOXN1 during the prenatal life blocks the development of immune system, and in particular of white blood cells, called lymphocytes, responsible for defense against infections and tumor surveillance. The disease caused by this alteration, called Nude/SCID, is the […]