Association between genetic condition, hormonal factors, and risk of endometrial cancer
For women with Lynch syndrome, an association was found between the risk of endometrial cancer and the age of first menstrual cycle, having given birth, and hormonal contraceptive use, according to a study. Lynch syndrome is a genetic condition that increases the risk for various cancers.
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...
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]
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
Conclusions: Somatic analysis is a useful strategy to distinguish sporadic from LS GC. Our data allow the identification of a subset of LS patients otherwise unrecognized on the basis of clinical or family history alone. In addition, our results indicate that some clinicopathological features including age of GC diagnosis; presence of peritumoral lymphocytes; isthmic, endocervical sites, and body mass index value could be useful criteria to select patients for genetic counseling.
We report t he case of a woman with an early-onset endometrial adenocarcinoma who was suspected to be affected with Lynch syndrome based on tumor dMMR phenotype (MSI associated with loss of expression of MSH2 and MSH6 proteins). After complete germline and somatic evaluations, this phenotype was eventually expl ained by twoMSH2 somatic mutations and the diagnosis of Lynch-like syndrome due to an unidentifiedMSH2 germline mutation was ruled out. Somatic mosaicism at low mutation rate was unlikely as no mutation was detected by DNA analysis from various tissue samples. Nevertheless, the three patient ’s children were t...
CONCLUSION: The strongest predictor of EC risk was closer relatedness and younger EC diagnosis age in ≥1 relative. Associations remained significant irrespective of proband MMR status, and after excluding MMR pathogenic variant carriers, indicating that Lynch syndrome genes do not fully explain familial EC risk. PMID: 28822557 [PubMed - as supplied by publisher]
Two studies on Lynch syndrome highlight cancer screening and surveillance opportunities.
ConclusionsOverall, GC compliance was relatively low in our study. Interestingly, patients with a strong family history of LS-associated neoplasms were more likely to pursue GC. In the future, assessing and addressing barriers to seeking GC will provide opportunities to improve patient care through increased identification of patients with cancer predisposition syndromes.