The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Mutations Associated with HNPCC Predisposition — Update of ICG‐HNPCC/INSiGHT Mutation Database
Open accessAbstract
In 1994, the International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer (ICG‐HNPCC) established an international database of mutations identified in families with Lynch (HNPCC) syndrome. The data are publicly available at http://www.nfdht.nl. The information stored in the database was systematically analyzed in 1997, and at that time, 126 different predisposing mutations were reported affecting the DNA mismatch repair genes MSH2 and MLH1 and occurring in 202 families. In 2003, the ICG‐HNPCC and the Leeds Castle Polyposis Group (LCPG) merged into a new group, INSiGHT (International Society for Gastrointestinal Hereditary Tumors). The present update of the database of DNA mismatch repair gene mutations of INSiGHT includes 448 mutations that primarily involve MLH1 (50%), MSH2 (39%), and MSH6 (7%) and occur in 748 families from different parts of the world.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Boland, C. R., Thibodeau, S. N., Hamilton, S. R., Sidransky, D., Eshleman, J. R., Burt, R. W., Meltzer, S. J., Rodrı́guez-Bigas, M. A., Fodde, R., Ranzani, G. N., et al. (1998) · PubMed · Cited by 4,087
VASEN, H., WATSON, P., MECKLIN, J., & LYNCH, H. (1999) · Gastroenterology · doi:10.1016/s0016-5085(99)70510-x · Cited by 2,519
Self-citationThe International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
Vasen, H. F. A., Mecklin, J. P., Meera Khan, P., & Lynch, H. T. (1991) · Diseases of the Colon & Rectum · doi:10.1007/bf02053699 · Cited by 2,147
Self-citationInherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors
Al-Tassan, N., Chmiel, N. H., Maynard, J., Fleming, N., Livingston, A. L., Williams, G. T., Hodges, A. K., Davies, D. R., David, S. S., Sampson, J. R., et al. (2002) · Nature Genetics · doi:10.1038/ng828 · Cited by 1,394
The Molecular Basis of Turcot's Syndrome
Hamilton, S. R., Liu, B., Parsons, R. E., Papadopoulos, N., Jen, J., Powell, S. M., Krush, A. J., Berk, T., Cohen, Z., Tetu, B., et al. (1995) · New England Journal of Medicine · doi:10.1056/nejm199503303321302 · Cited by 1,133
Vasen, H., Wijnen, J., Menko, F., Kleibeuker, J., Taal, B., Griffioen, G., Nagengast, F., Meijers-Heijboer, E., Bertario, L., Varesco, L., et al. (1996) · Gastroenterology · doi:10.1053/gast.1996.v110.pm8612988 · Cited by 816
Self-citationGenetic susceptibility to non-polyposis colorectal cancer
Lynch, H. T., & de la Chapelle, A. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.11.801 · Cited by 814
Peltomaki, P., & Vasen, H. (1997) · Gastroenterology · doi:10.1053/gast.1997.v113.pm9322509 · Cited by 738
Self-citationAkiyama, Y., Sato, H., Yamada, T., Nagasaki, H., Tsuchiya, A., Abe, R., & Yuasa, Y. (1997) · PubMed · Cited by 463
Familial endometrial cancer in female carriers of MSH6 germline mutations
Wijnen, J., Leeuw, W. D., Vasen, H., Klift, H. V. D., Møller, P., Stormorken, A., Meijers-Heijboer, H., Lindhout, D., Menko, F., Vossen, S., et al. (1999) · Nature Genetics · doi:10.1038/13773 · Cited by 415
Self-citation
Cited by
Hereditary and Familial Colon Cancer
Jasperson, K. W., Tuohy, T. M., Neklason, D. W., & Burt, R. W. (2010) · Gastroenterology · doi:10.1053/j.gastro.2010.01.054 · Cited by 1,312
DNA repair mechanisms in dividing and non-dividing cells
Iyama, T., & Wilson, D. M. (2013) · DNA Repair · doi:10.1016/j.dnarep.2013.04.015 · Cited by 697
Zhao, P., Li, L., Jiang, X., & Li, Q. (2019) · Journal of Hematology & Oncology · doi:10.1186/s13045-019-0738-1 · Cited by 682
Lindor, N. M., Petersen, G. M., Hadley, D. W., Kinney, A. Y., Miesfeldt, S., Lu, K. H., Lynch, P., Burke, W., & Press, N. (2006) · JAMA · doi:10.1001/jama.296.12.1507 · Cited by 629
Difference Between Left-Sided and Right-Sided Colorectal Cancer: A Focused Review of Literature
Baran, B., Mert Ozupek, N., Yerli Tetik, N., Acar, E., Bekcioglu, O., & Baskin, Y. (2018) · Gastroenterology Research · doi:10.14740/gr1062w · Cited by 553
Metadata
- Authors
- Peltomäki, P., & Vasen, H.
- Venue
- Disease Markers
- Publisher
- Wiley
- Published
- 2004-01
- Volume
- 20
- Issue
- 4-5
- Pages
- 269-276
- ISSN
- 0278-0240 (ISSN-L)
- 1875-8630
- OpenAlex
- W2150587328
- Cited by
- 437
- References
- 33
- FWCI
- 17.54
- Type
- journal article
- Language
- en
- Open access
- hybrid
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Mutations Associated with HNPCC Predisposition — Update of ICG‐HNPCC/INSiGHT Mutation Database. https://app.cochat.ai/papers/10.1155/2004/305058
- The paper
- Peltomäki, P., & Vasen, H. (2004). Mutations Associated with HNPCC Predisposition — Update of ICG‐HNPCC/INSiGHT Mutation Database. Disease Markers. https://doi.org/10.1155/2004/305058
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
