The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations
نویسندگان
چکیده
منابع مشابه
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2
Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 p...
متن کاملI-50: Embryo Loss Due to Epigenetic Anomaliesin the Male Germ Line: Role of Estrogen
Background: To investigate if aberrant methylation and expression of imprinted genes of the Igf2-H19 locus in the spermatozoa and embryos could be a paternal epigenetic factor involved in early embryo loss To elucidate the role of estrogen in acquisition of the imprinting at the Igf2-H19 locus during spermatogenesis Materials and Methods: Adult male rats of Holtzman strain were administered tam...
متن کاملAnalytical challenges in the genetic diagnosis of Lynch syndrome – difficult detection of germ-line mutations in sequences surrounding homopolymers
A genetic diagnosis is essential in families with a suspicion of Lynch syndrome, as it allows the use of proper and specific surveillance programs for high-risk individuals who carry a pathogenic mutation. The prediction and prevention schemes reduce the impact of cancer in high-risk families in a cost-effective manner. Genetic tests for LS are well standardized and broadly used, although there...
متن کاملMSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer
BACKGROUND Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2. It is assumed that the cancer incidence is the same in families with mutations in MSH6 as in families with mutations in MLH1/MSH2 but that the disease tends to occur later in life, little is known about families with PMS2 mutations. This study reports on our findings on mu...
متن کاملCompartment Syndrome of the Calf Due to Nicolau Syndrome
We report a case of Nicolau syndrome in a 15 months old girl following of an intramuscular injection of penicillin 6.3.3 in her left buttock. This case is unique because she developed compartment syndrome in her left calf far from her injection site. Her toe’s tips gangrened in the course of her ailment. We hypothesized that the compartment syndrome might be produced by a probable intra-arteri...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Gastroenterology
سال: 2008
ISSN: 0016-5085
DOI: 10.1053/j.gastro.2008.04.026