Type 2 Diabetes: An Alarming Disease in Mexican-Americans Melanie F. Molina University of Texas at Austin, School of Biological Sciences ¡Atención compadres! There’s a new villain in town. It’s a disease doctors are still trying to pin down. Type 2 Diabetes, perhaps it’s hard to believe. But hear it now, before turning to leave! […]
Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the PTT
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 […]
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome clinical features
Cowden syndrome (CS) is an important hereditary cancer syndrome, is caused by mutations in the PTEN gene, which causes significantly increased risks for breast, thyroid, uterine and perhaps colon cancers. Since 1996 the clinical diagnosis of CS has been based upon criteria established by a research consortium. These criteria, however, have not been rigorously examined […]
NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage
Mutations in NLRP7, a gene with a predicted role in inflammation and apoptosis, are responsible for recurrent molar pregnancies. In this study we report NLRP7 mutations in women with sporadic non-recurrent moles and in women with recurrent spontaneous abortions and no moles. We show that some rare NLRP7 variants, present in the general population, are […]
XX males SRY negative: a confirmed cause of infertility
Males with a 46,XX karyotype have in most of the cases the SRY gene translocated to one X chromosome. SRY initiates the cascade leading to testis differentiation having SOX9 gene as first target. We present two XX brothers with normal male differentiation, hypotrophic testes and azoospermia, both negative to SRY. Array-CGH identified an amplification of […]
Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the PTT
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 […]
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 […]