|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
Based on haplotypes for MCC and APC the added pairwise logarithm-of-odds score for all nine families was -22.57 at the recombination fraction of 0.00 using more stringent criteria for the HNPCC phenotype and -22.67 for less stringent criteria.
|
1643645 |
1992 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations in the adenomatous polyposis coli (APC) gene characteristic of familial adenomatous polyposis were evaluated, as well as DNA replication errors and germline mutations in nucleotide mismatch-repair genes characteristic of hereditary nonpolyposis colorectal cancer.
|
7661930 |
1995 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
CTD_human |
Germ-line mutations in the adenomatous polyposis coli (APC) gene characteristic of familial adenomatous polyposis were evaluated, as well as DNA replication errors and germline mutations in nucleotide mismatch-repair genes characteristic of hereditary nonpolyposis colorectal cancer.
|
7661930 |
1995 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
The APC gene on chromosome 5 causing adenomatous polyposis coli represents a minority of the inherited colon cancer cases, while hereditary-non polyposis colon cancer (HNPCC) may cause five percent of all human colon cancer.
|
7903889 |
1993 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Data did not support linkage to the APC locus or to any of the loci for hereditary nonpolyposis colorectal cancer.
|
8644741 |
1996 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
APC, p53, and K-ras-2 mutations and loss of heterozygosity of tumor-suppressor genes were significantly less frequent (P = 0.03 to 0.0006) but transforming growth factor beta type II receptor mutation was significantly more frequent (P = 0.000001) in HNPCC than in non-HNPCC.
|
8690195 |
1996 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
The discipline of molecular genetics has identified germline mutations that include APC in familial adenomatous polyposis (FAP) and mutator genes, namely MSH2, MLH1, PMS1, and PMS2 in hereditary nonpolyposis colorectal cancer (HNPCC).
|
9062584 |
1997 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In colorectal cancer such loci include the familial adenomatous polyposis (APC) gene and the hereditary nonpolyposis colorectal cancer (DNA mismatch repair) genes.
|
9242220 |
1997 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
APC and K-RAS mutations appear to be as frequent in the HNPCC tumors as in the sporadic counterpart.
|
9385369 |
1997 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our previous study detected a low frequency of APC gene mutation (21%) in colorectal tumors from HNPCC patients, in contrast to a high frequency of APC gene alteration (>70%) in non-HNPCC tumors.
|
10493496 |
1999 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Many cases of HNPCC are due to germline mutations in DNA mismatch repair genes, leading to the tumor phenotype of microsatellite instability (MSI), and most cases of FAP are caused by germline APC mutations.
|
11135435 |
2001 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This article traces the historical aspects of hereditary cancer dealing with identification and ultimate molecular genetic confirmation of commonly occurring cancers, particularly of the colon in the case of familial adenomatous polyposis and its attenuated form, both due to the APC germline mutation; the Lynch syndrome due to mutations in mismatch repair genes, the most common of which were found to be MSH2, MLH1, and MSH6 germline mutations; the hereditary breast-ovarian cancer syndrome with BRCA1 and BRCA2 germline mutations; the Li-Fraumeni (SBLA) syndrome due to the p53 mutation; and the familial atypical multiple mole melanoma in association with pancreatic cancer due to the CDKN2A (p16) germline mutation.
|
15264268 |
2004 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Complete or partial gene deletions were identified in seven cases for hMSH2 (5.7% of mutation-negative HNPCC; 4.3% of all HNPCC), no cases for hMLH1 and six cases for APC (25% of mutation negative FAP; 8% of all FAP).
|
15475941 |
2004 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Molecular changes (K-ras and beta-catenin mutations, chromosome 18q allele loss (LOH), APC LOH, microsatellite instability (MSI), and expression of beta-catenin and p53) were examined in four series of CRC patients with proven or probable hereditary disease: hereditary non-polyposis colon cancer (HNPCC); MYH associated polyposis (MAP); multiple (>5) colorectal adenomas without familial adenomatous polyposis (FAP); and other families/cases referred to family cancer clinics (FCC series).
|
15788729 |
2005 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations in hMSH2, A636P, and 324delCA, associated with hereditary nonpolyposis colon cancer (HNPCC), were determined.
|
15929773 |
2005 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
Furthermore, five markers (BAT25, BAT26, D2S123, APC, and D17S250) of the Bethesda consensus panel for detection of colorectal cancer within the hereditary non-polyposis colon cancer syndrome (HNPCC) were analyzed.
|
16762487 |
2006 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
Similarities with HNPCC high-microsatellite instability tumors are observed when APC data are analyzed.
|
17908962 |
2007 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in DNA mismatch repair genes are associated with high risk of digestive malignancies [hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome]; mutations of APC and MYH are associated with classic and attenuated familial adenomatous polyposis (FAP).
|
18629513 |
2008 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
The genes responsible for each disease were identified almost two decades ago -APC for FAP and the MMR genes for HNPCC - and a large number of germline variations have been identified in these genes in hereditary cancer patients.
|
19766128 |
2010 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
There are two major hereditary colorectal cancer syndromes: Adenomatous Polyposis, secondary to APC germline alterations (FAP, Familial Adenomatous Polyposis) or secondary to MUTYH germline alterations (MAP, MUTYH associated Polyposis), and Lynch syndrome, associated with germline mutations in mismatch repair genes (MLH1, MSH2, MSH6 and PMS2).
|
19931546 |
2010 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We found a significant difference in cytoplasmic APC expression frequency between sporadic MSS (52%) and HNPCC tumors (78%), whereas no difference was detected between MSI-H and MSS or HNPCC tumors.
|
20532534 |
2010 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
It is well known that germ line mutations in the cis-element of tumor suppressor genes such as mismatch repair (MMR) genes, the adenomatous polyposis coli (APC) gene and the E-cadherin (CDH1) gene are involved in Lynch syndrome, familial adenomatous polyposis and hereditary diffuse gastric cancer, respectively.
|
21134075 |
2011 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Analyses included completion of APC gene exon 16 sequencing, analysis for APC gene copy number variations (deletions or duplications), MUTYH gene sequencing, and microsatellite instability in CRC patients fulfilling "Bethesda" (laboratory investigation) criteria for Lynch syndrome.
|
21287799 |
2010 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
Biomarker
|
disease |
BEFREE |
However, ZEB1 is not expressed in the epithelium of hereditary forms of CRCs that carry wild-type APC and where β-catenin is excluded from the nucleus (Lynch syndrome).
|
22080605 |
2011 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We asked whether in Lynch syndrome biallelic inactivation of MMR genes occurred at a similar frequency to that of APC gene, and whether MMR inactivation resulted in detectable lesions within the intestinal mucosa.
|
22552011 |
2012 |