ArticleOncogene2005
Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations.
Article in Oncogene, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 89 citations in OpenAlex.
- High Probability of Lynch Syndrome Among Colorectal Cancer Patients Is Associated With Higher Occurrence of KRAS and PIK3CA Mutations.World journal of oncology · 2024Article
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- Interval Colorectal Cancer 2006-2015: Novel Observations.Digestive diseases and sciences · 2021Article
- Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes.Journal of clinical medicine · 2020Review
- Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees.Frontiers in oncology · 2020Article
- Familial Colorectal Cancer Type X.Current genomics · 2017Review
- Role of AXL in invasion and drug resistance of colon and breast cancer cells and its association with p53 alterations.World journal of gastroenterology · 2017Article
- Differential expression of CK20, β-catenin, and MUC2/5AC/6 in Lynch syndrome and familial colorectal cancer type X.BMC clinical pathology · 2017Article
- DNA copy number profiling in microsatellite-stable and microsatellite-unstable hereditary non-polyposis colorectal cancers by targeted CNV array.Functional & integrative genomics · 2017Article
- The Role of Chromosomal Instability and Epigenetics in Colorectal Cancers Lacking β-Catenin/TCF Regulated Transcription.Gastroenterology research and practice · 2016Article
- Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X.Journal of gastroenterology · 2015Article
- Familial colorectal cancer type X: genetic profiles and phenotypic features.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2015Review
- Hereditary ovarian cancer: not only BRCA 1 and 2 genes.BioMed research international · 2015Review
- BaxΔ2 promotes apoptosis through caspase-8 activation in microsatellite-unstable colon cancer.Molecular cancer research : MCR · 2014Article
- Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.Gastroenterology · 2014Article
- Genetic predisposition to colorectal cancer: where we stand and future perspectives.World journal of gastroenterology · 2014Review
- Characterisation of familial colorectal cancer Type X, Lynch syndrome, and non-familial colorectal cancer.British journal of cancer · 2014Article
- Cancer risk and overall survival in mismatch repair proficient hereditary non-polyposis colorectal cancer, Lynch syndrome and sporadic colorectal cancer.Familial cancer · 2014Article
- Prospective study of family history and colorectal cancer risk by tumor LINE-1 methylation level.Journal of the National Cancer Institute · 2013Article
- Distinct gene expression signatures in lynch syndrome and familial colorectal cancer type x.PloS one · 2013Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A considerable fraction of families with HNPCC shows no germline mismatch repair (MMR) gene mutations. We previously detected 'hidden' MMR gene defects in 42% of such families, leaving the remaining 58% 'truly' mutation negative. Here, we characterized 50 colorectal carcinomas and five adenomas arising in HNPCC families; 24 truly MMR gene mutation negative and 31 MMR gene mutation positive. Among 31 tumors from MMR gene mutation positive families, 25 (81%) had active Wnt signaling as indicated by aberrant beta-catenin localization with or without CTNNB1 mutations, compared to only 7/18 tumors from MMR gene mutation negative families (39%; P=0.005). CGH studies revealed stable profiles in 9/16 (56%) of MMR gene mutation negative tumors, which was significantly associated with membranous beta-catenin (P=0.005). Tumors with membranous beta-catenin from the MMR gene mutation negative group also showed low frequency of TP53 mutations compared to those with nuclear beta-catenin. Thus, a majority of the MMR gene mutation negative cases exhibited a novel molecular pattern characterized by the paucity of changes in common pathways to colorectal carcinogenesis. This feature distinguishes the MMR gene mutation negative families from both HNPCC families linked to MMR defects and sporadic cases, suggesting the involvement of novel predisposition genes and pathways in such families.
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