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).
Familial Colorectal Cancer Type X (FCCTX) is a type of hereditary non-polyposis colorectal cancer in accordance to Amsterdam criteria-1(AC1) for Lynch syndrome, with no related mutation in mismatch repair gene (MMR) gene. FCCTX is microsatellite stable and is accounted for 40 % of families with AC1 with a high age of onset. Thus, the carcinogenesis of FCCTX is different compared to lynch syndrome. In addition to the microsatellite stability and the presence of less predominant tumors in proximal colon, various clinical features have also been associated with FCCTX in comparison with lynch syndrome such as no increased risk...
Lynch syndrome (LS) is a hereditary cancer syndrome caused by a germline mutation in a DNA mismatch repair gene, usually MLH1, MSH2, MSH6, or PMS2. The most common cancers associated with LS are colorectal adenocarcinoma and endometrial carcinoma. Identification of women with LS-associated endometrial cancer is important, as these women and their affected siblings and children are at-risk of developing these same cancers. Germline testing of all endometrial cancer patients is not cost effective, and screening using young age of cancer diagnosis and/or presence of family history of syndrome-associated is underutilized and i...
ConclusionsThe hypothesis that the high incidence of CRC inpath_MLH1 carriers was caused by a higher incidence in the Finnish series was not valid. We discuss whether the results were influenced by methodological shortcomings in our study or whether the assumption that a shorter interval between colonoscopies leads to a lower CRC incidence may be wrong. This second possibility is intriguing, because it suggests the dogma that CRC inpath_MLH1 carriers develops from polyps that can be detected at colonoscopy and removed to prevent CRC may be erroneous. In view of the excellent 10-year overall survival in the Finnish and non-...
CONCLUSION: The prevalence of Lynch syndrome found in Brazzaville is comparable to that is found in northern countries. The combined Bethesda guidelines, pedigree and IHC is an accessible and good alternative method for the positive diagnosis of Lynch syndrome in current practice in Congo. PMID: 28988047 [PubMed - as supplied by publisher]
This article presents a rare clinical of a 61-year-old female diagnosed with extracolonic Lynch syndrome with six metachronous tumours acquiring in digestive tract during the period from 1993 to 2014 (over 21 years). No other cases of six primary malignancies in patient with Lynch syndrome have been reported in literature. Upon diagnosis of Lynch syndrome, it is important to screen patient for malignancies of different localization as this syndrome predisposes appearance of various cancers at earlier age than in general population. PMID: 28938854 [PubMed - as supplied by publisher]
• In a large cohort of individuals at risk for a hereditary cancer syndrome, 6.7% were identified with one or more pathogenic variants.• The largest proportion of findings were in BRCA1 and BRCA2 (42.2%), followed by additional breast cancer-risk genes (32.9%), the Lynch syndrome genes (13.2%), and ovarian cancer-risk genes (6.8%).• Depending on the gene group, 1.3%-56.8% of clinically significant findings were “unexpected” in the context of the individual's personal and family cancer history and would likely have been missed by single-syndrome or single-cancer testing.
Conditions: Colorectal Neoplasms, Hereditary Nonpolyposis; Endometrial Neoplasms Interventions: Diagnostic Test: immunohistochemical staining; Diagnostic Test: tests of microsatellite instability; Diagnostic Test: clinical criteria of Lynch syndromes; Diagnostic Test: sequencing for mismatch repair genes Sponsor: Lei Li Recruiting