/manager/Index ${session.getAttribute("locale")} 5 Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome /manager/Repository/uon:37273 MSH3, PMS1, MLH3, EXO1, POLD1, POLD3 RFC1, RFC2, RFC3, RFC4, RFC5, PCNA, LIG1, RPA1, RPA2, RPA3, POLD2, POLD4, MLH1, MSH2, MSH6, and PMS2) in 274 LLS patients. Detected variants were annotated and filtered using ANNOVAR and FILTUS software. Results: Thirteen variants were revealed in MLH1, MSH2, and MSH6, all genes previously linked to LS. Five additional genes (EXO1, POLD1, RFC1, RPA1, and MLH3) were found to harbor 11 variants of unknown significance in our sample cohort, two of them being frameshift variants. Conclusion: We have shown that other genes associated with the process of DNA MMR have a high probability of being associated with LLS families. These findings indicate that the spectrum of genes that should be tested when considering an entity like Lynch‐like syndrome should be expanded so that a more inclusive definition of this entity can be developed.]]> Wed 17 Nov 2021 16:28:09 AEDT ]]> Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations /manager/Repository/uon:24811 Thu 27 Jan 2022 15:55:07 AEDT ]]>