PMID 9731533 1998 The I1307K allele was found in 6.1% of unselected Ashkenazi Jews and higher proportions of Ashkenazim with family or personal histories of CRC (ref.2).
PMID 9724771 1998 The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
PMID 11159880 2001 To further address the pathogenic significance of I1307K, we offered both a genetic test and a screening program to individuals considered to be at increased risk for colorectal cancer.
PMID 9973276 1999 Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism.
PMID 9288102 1997 Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.
PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
PMID 16228836 2005 Colorectal polyps in carriers of the APC I1307K polymorphism.
PMID 28125075 2017 Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.
PMID 10938175 2000 Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polyps.
PMID 27146957 2016 Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps.
PMID 26314409 2016 Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects.
PMID 23576677 2013 APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis.
PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
PMID 18343606 2009 No evidence of the APC D1822V missense variant's pathogenicity in Tunisian patients with sporadic colorectal cancer.
PMID 23896379 2013 The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.
PMID 26421687 2016 The APC I1307K allele conveys a significant increased risk for cancer.
PMID 24310308 2014 ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
PMID 24599579 2014 The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.
PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
PMID 18343606 2009 No evidence of the APC D1822V missense variant's pathogenicity in Tunisian patients with sporadic colorectal cancer.
PMID 9288102 1997 Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.
PMID 23896379 2013 The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.
PMID 9751605 1998 Somatic instability of the APC I1307K allele in colorectal neoplasia.
PMID 15712637 2005 Colonic adenomas do not cosegregate with the I1307K APC missense mutation in an Israeli non-Ashkenazi family.
PMID 17854661 2007 How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colorectal cancer, but not stomach cancer, in a Turkish population.
PMID 24416237 2014 Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract.
PMID 9724771 1998 The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
PMID 11001924 2000 Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.