RNF43 pathogenic Germline variant in a family with colorectal cancer.
Mikaeel RR, Young JP, Li Y, Poplawski NK, Smith E, Horsnell M, Uylaki W, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Scott H, Rawlings L, Henry D, Vakulin C, Dubowsky A, Price TJ.
Mikaeel RR, et al.
Clin Genet. 2022 Jan;101(1):122-126. doi: 10.1111/cge.14064. Epub 2021 Sep 27.
Clin Genet. 2022.
PMID: 34541672
This report presents our findings of two individuals with CRC from a single family carrying a likely-pathogenic inherited germline variant in RNF43. The proband (III:1) and the proband's mother (II:2) were diagnosed with mismatch repair proficient CRCs at the age of …
This report presents our findings of two individuals with CRC from a single family carrying a likely-pathogenic inherited germline varian …