A diagnostic strategy for detection of inherited diseases caused by germline mutations is based on somatic cell hybridization. Each allele of a human gene involved in the inherited disease is isolated in a somatic cell hybrid. The products of the isolated human allele are then observed in the abs...
2005: Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations International Journal of Cancer 116(1): 73-77 Brown, N.J.; Bhatia, K.; Teague, J.; White, S.M.; Lo, P.; Challis, J.; Beshay, V.; Sullivan, M...
© American College of Medical Genetics and Genomics Review Article PMS2 monoallelic mutation carriers: the known unknown McKinsey L. Goodenberger, MS1, Brittany C. Thomas, MS1, Douglas Riegert-Johnson, MD2, C. Richard Boland, MD3, Sharon E. Plon, MD, PhD4,...
Mutations in the GP1BA gene have been associated with platelet-type von Willebrand disease and Bernard-Soulier syndrome. Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia and mild bleeding. We performed analyses of seven family members. Using whole-exo...
). This signature, attributed to defective homologous recombination-based DNA damage repair, is supported by our observation of a pathogenic somatic frameshift deletion-T mutation at exon 20 of the BRCA1 gene, as well as an indel mutational spectrum showing that the majority of indels were ≥ 5...
A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopeniaBernard Soulier syndromegiant plateletsheterozygous mutationmacrothrombocytopeniaInherited macrothrombocytopenia is one of the subgroup of inherited thrombocytopenias with variable bleeding tendencies presenting...
Increased risk for colorectal adenomas and cancer in mono-allelic MUTYH mutation carriers: results from a cohort of North-African JewsAdenomasAPC-negative adenomatous polypsColorectal cancerNorth-African JewsMUTYHCarriersBi-allelic MUTYH gene mutations are associated with a clinical phenotype of multiple ...
It is caused by a mutation in the Adenomatous Polyposis coli (APC) gene which is responsible for tumor suppression and controls apoptosis. While benign fundic gland polyps are common, gastric cancer is rare in the Western population. MYH Associated Polyposis Syndrome (MAP) is an autosomal ...
Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma. Clinical Epigenetics. 2016;8:1. doi: 10.1186/s13148-015-0167-0.Quinonez-Silva G, Davalos-Salas M, Recillas-Targa F, Ostrosky-Wegman P, Aranda...
However, mutation copy number was correlated neither with the age at diagnosis of adenomas or adenocarcinomas, nor with the presence of a family history of colorectal tumors. Heterozygous and homozygous MYH mutation carriers were both at high risk for synchronous cancers (24% in colorectum and 16...