An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant
نویسندگان
چکیده
منابع مشابه
Identification of an APC Variant in a Patient with Clinical Attenuated Familial Adenomatous Polyposis
Introduction. The objective of this case report is to discuss an unclassified germline variant of the adenomatous polyposis coli (APC) gene identified in an older patient with attenuated familial adenomatous polyposis syndrome (AFAP). Methods. We present a case report of a 66-year-old man diagnosed with AFAP. Colonoscopy found multiple polyps and invasive adenocarcinoma arising in the transvers...
متن کاملMicroduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
متن کاملA Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction
Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...
متن کاملLow frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.
Familial adenomatous polyposis has been linked to germline mutations in the APC tumor suppressor gene. However, a number of patients with familial adenomatous polyposis (with either classical or attenuated phenotype) have no APC mutation. Recently, germline mutations in the Wnt pathway component gene AXIN2 have been associated with tooth agenesis-colorectal cancer syndrome. Moreover, biallelic ...
متن کاملThe Val142Ile transthyretin cardiac amyloidosis: more than an Afro-American pathogenic variant
W e read the case report (1) by Molina et al. with great interest. We believe that a few points need to be discussed in greater detail. Molina reported that this mutation is an important, though under-diagnosed, cause of heart failure in the elderly black community, with virtually undetectable prevalence in the white population (2). In fact, to date, only few and sporadic cases of Val142Ile (fo...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Hereditary Cancer in Clinical Practice
سال: 2020
ISSN: 1897-4287
DOI: 10.1186/s13053-020-00149-8