An international study allows a better prediction of the risk of hereditary cancer
(IDIBELL-Bellvitge Biomedical Research Institute) An international study has developed a refined method to identify people at risk for certain inherited cancer as a result of Lynch syndrome. The study, published in Nature Genetics has carried out clinical and basic researchers who are part of the INSIGHT (International Society for Gastroeintestinal Hereditary Tumours).
ConclusionsThese findings showed that these guidelines could be useful for identifying PC patients with DNA damage repair genes as well as MMR genes.
(University of Texas M. D. Anderson Cancer Center) Colon polyps from patients with Lynch syndrome, a hereditary condition that raises colorectal cancer risk, display immune system activation well before cancer development, according to research from The University of Texas MD Anderson Cancer Center. The preclinical research challenges traditional models of cancer immune activation and suggests immunotherapy may be useful for colorectal cancer prevention in certain high-risk groups.
In conclusion, this study has identified putative PrCa predisposing germline mutations in 14.9% of early-onset/familial PrCa patients. Further data will be necessary to confirm the genetic heterogeneity of inherited PrCa predisposition hinted in this study.
Publication date: Available online 15 April 2018 Source:Pharmacology & Therapeutics Author(s): Marina Baretti, Dung T. Le Microsatellite instability (MSI) refers to the hypermutator phenotype secondary to frequent polymorphism in short repetitive DNA sequences and single nucleotide substitution, as consequence of DNA mismatch repair (MMR) deficiency. MSI secondary to germline mutation in DNA MMR proteins is the molecular fingerprint of Lynch Syndrome (LS), while epigenetic inactivation of these genes is more commonly found in sporadic MSI tumors. MSI occurs at different frequencies across malignancies, although origin...
CONCLUSIONS: In screening for LS in EC, IHC for MMRPs can be performed with identical accuracy on either EMB/C or hysterectomy specimens. Routine testing of diagnostic EMB/Cs may lead to earlier detection of MMRP deficiency, with improved patient uptake of genetic counseling and potential for earlier identification of immunotherapy candidates. Furthermore, reliable IHC-based LS screening performed on EMB/C can guide patient management and genetic counseling in patients unable to undergo hysterectomy. PMID: 29656794 [PubMed - as supplied by publisher]
AbstractDissemination of information on a genetically increased risk should according to guidelines primarily be family-mediated. Incomplete and incorrect information spread has, however, been documented and implies missed possibilities for prevention. In Denmark, the national HNPCC register has been granted an exception to send unsolicited letters with information on hereditary colorectal cancer and an invitation to genetic counseling to members of families with familial and hereditary colorectal cancer. To evaluate this approach, we investigated reactions and attitudes to unsolicited letters in 708 members of families wi...
DEAR MAYO CLINIC: I am considering undergoing genetic testing to see if I have the gene mutation that causes Lynch syndrome. Because of my family history, I already have regular colonoscopies even though I?m only 41. What would knowing I have the mutation change as far as how I?m monitored for colon cancer? ANSWER: Knowing [...]
AbstractIndividuals with Lynch syndrome (LS) have germline variants in DNA mismatch repair (MMR) genes that confer a greatly increased risk of colorectal cancer (CRC), often at a young age. Identification of these individuals has been shown to increase their survival through improved surveillance. We previously identified 33 high risk cases for LS in the Saudi population by screening for microsatellite instability (MSI) in the tumor DNA of 284 young CRC patients. The aim of the present study was to identify MMR gene variants in this cohort of patients. Peripheral blood DNA was obtained from 13 individuals who were at high ...
A charity says that more than 80% are failing to test for the genetic condition Lynch syndrome.
Molecular changes preceding endometrial and ovarian cancer: a study of consecutive endometrial specimens from Lynch syndrome surveillance, Published online: 27 March 2018; doi:10.1038/s41379-018-0044-4Molecular changes preceding endometrial and ovarian cancer: a study of consecutive endometrial specimens from Lynch syndrome surveillance