Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1996 6
1997 8
1998 12
1999 33
2000 23
2001 24
2002 32
2003 29
2004 41
2005 48
2006 61
2007 73
2008 80
2009 89
2010 83
2011 92
2012 99
2013 103
2014 135
2015 149
2016 143
2017 175
2018 198
2019 211
2020 251
2021 267
2022 244
2023 242
2024 94

Text availability

Article attribute

Article type

Publication date

Search Results

2,691 results

Results by year

Filters applied: . Clear all
Page 1
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
Bonadona V, Bonaïti B, Olschwang S, Grandjouan S, Huiart L, Longy M, Guimbaud R, Buecher B, Bignon YJ, Caron O, Colas C, Noguès C, Lejeune-Dumoulin S, Olivier-Faivre L, Polycarpe-Osaer F, Nguyen TD, Desseigne F, Saurin JC, Berthet P, Leroux D, Duffour J, Manouvrier S, Frébourg T, Sobol H, Lasset C, Bonaïti-Pellié C; French Cancer Genetics Network. Bonadona V, et al. JAMA. 2011 Jun 8;305(22):2304-10. doi: 10.1001/jama.2011.743. JAMA. 2011. PMID: 21642682
RESULTS: Significant differences in estimated cumulative cancer risk were found between the 3 mutated genes (P = .01). The estimated cumulative risks of colorectal cancer by age 70 years were 41% (95% confidence intervals [CI], 25%-70%) for MLH1 mutation carriers, 4 …
RESULTS: Significant differences in estimated cumulative cancer risk were found between the 3 mutated genes (P = .01). The estimated …
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, Miller CA, Kanchi KL, Eldred JM, Larson DE, Welch JS, You M, Ozenberger BA, Govindan R, Walter MJ, Ellis MJ, Mardis ER, Graubert TA, Dipersio JF, Ley TJ, Wilson RK, Goodfellow PJ, Raphael BJ, Chen F, Johnson KJ, Parvin JD, Ding L. Lu C, et al. Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086. Nat Commun. 2015. PMID: 26689913 Free PMC article.
Large-scale cancer sequencing data enable discovery of rare germline cancer susceptibility variants. ...Burden testing identifies 13 cancer genes with significant enrichment of rare truncations, some associated with specific cancers (for example, RAD51 …
Large-scale cancer sequencing data enable discovery of rare germline cancer susceptibility variants. ...Burden testing identif …
Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.
Devlin LA, Graham CA, Price JH, Morrison PJ. Devlin LA, et al. Ulster Med J. 2008 Jan;77(1):25-30. Ulster Med J. 2008. PMID: 18269114 Free PMC article.
OBJECTIVE: To determine and compare the prevalence of MSH6 (a mismatch repair gene) mutations in a cohort of families with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), and in an unselected cohort of endometrial cancer patients (EC). ...RESULTS: A trunc …
OBJECTIVE: To determine and compare the prevalence of MSH6 (a mismatch repair gene) mutations in a cohort of families with Hereditary …
Microsatellite instability in colorectal cancer.
De' Angelis GL, Bottarelli L, Azzoni C, De' Angelis N, Leandro G, Di Mario F, Gaiani F, Negri F. De' Angelis GL, et al. Acta Biomed. 2018 Dec 17;89(9-S):97-101. doi: 10.23750/abm.v89i9-S.7960. Acta Biomed. 2018. PMID: 30561401 Free PMC article. Review.
MMR is a very highly conserved cellular process, involving many proteins, resulting in the identification, and subsequent repair of mismatched bases, likely to have arisen during DNA replication, genetic recombination or chemical or physical damage. Proteins within the MMR system …
MMR is a very highly conserved cellular process, involving many proteins, resulting in the identification, and subsequent repair of mismatch …
MSH6 immunohistochemical heterogeneity in colorectal cancer: comparative sequencing from different tumor areas.
Chen W, Pearlman R, Hampel H, Pritchard CC, Markow M, Arnold C, Knight D, Frankel WL. Chen W, et al. Hum Pathol. 2020 Feb;96:104-111. doi: 10.1016/j.humpath.2019.11.003. Epub 2019 Nov 27. Hum Pathol. 2020. PMID: 31783044 Free PMC article.
Mismatch repair protein (MMR) immunohistochemistry is an important tool in screening for Lynch syndrome in colorectal cancer patients. Unusual staining patterns such as heterogeneous MSH6 staining have been reported in colorectal and endometrial cancers. We a …
Mismatch repair protein (MMR) immunohistochemistry is an important tool in screening for Lynch syndrome in colorectal cancer patients …
Microsatellite instability in colorectal cancer-the stable evidence.
Vilar E, Gruber SB. Vilar E, et al. Nat Rev Clin Oncol. 2010 Mar;7(3):153-62. doi: 10.1038/nrclinonc.2009.237. Epub 2010 Feb 9. Nat Rev Clin Oncol. 2010. PMID: 20142816 Free PMC article. Review.
Microsatellite instability (MSI) is the molecular fingerprint of a deficient mismatch repair system. Approximately 15% of colorectal cancers (CRC) display MSI owing either to epigenetic silencing of MLH1 or a germline mutation in one of the mismatch repair genes MLH1, MSH2 …
Microsatellite instability (MSI) is the molecular fingerprint of a deficient mismatch repair system. Approximately 15% of colorectal canc …
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.
Lerner-Ellis J, Mighton C, Lazaro C, Watkins N, Di Gioacchino V, Wong A, Chang MC, Charames GS. Lerner-Ellis J, et al. J Cancer Res Clin Oncol. 2021 Mar;147(3):871-879. doi: 10.1007/s00432-020-03377-6. Epub 2020 Sep 3. J Cancer Res Clin Oncol. 2021. PMID: 32885271
Cases were included in the analysis based on personal and family history of cancer and the type of panel ordered. RESULTS: 3251 cases that received panel testing were included in this analysis. ...Of the positive cases, 9.8% (29) had a pathogenic or likely pathogenic varia …
Cases were included in the analysis based on personal and family history of cancer and the type of panel ordered. RESULTS: 3251 cases …
Identification of Lynch Syndrome.
Maratt JK, Stoffel E. Maratt JK, et al. Gastrointest Endosc Clin N Am. 2022 Jan;32(1):45-58. doi: 10.1016/j.giec.2021.09.002. Gastrointest Endosc Clin N Am. 2022. PMID: 34798986 Review.
Lynch syndrome (LS) is an autosomal dominant hereditary cancer syndrome caused by pathogenic germline variants (PGV) in any of the 4 DNA mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2, or deletions in EPCAM. LS leads to an increased risk of intestinal and e …
Lynch syndrome (LS) is an autosomal dominant hereditary cancer syndrome caused by pathogenic germline variants (PGV) in any of the 4 …
Germline pathogenic variant spectrum in 25 cancer susceptibility genes in Turkish breast and colorectal cancer patients and elderly controls.
Akcay IM, Celik E, Agaoglu NB, Alkurt G, Kizilboga Akgun T, Yildiz J, Enc F, Kir G, Canbek S, Kilic A, Zemheri E, Ezberci F, Ozcelik M, Dinler Doganay G, Doganay L. Akcay IM, et al. Int J Cancer. 2021 Jan 15;148(2):285-295. doi: 10.1002/ijc.33199. Epub 2020 Aug 19. Int J Cancer. 2021. PMID: 32658311 Free article.
Inherited pathogenic variants account for 5% to 10% of all breast cancer (BC) and colorectal cancer (CRC) cases. Here, we sought to profile the pathogenic variants in 25 cancer susceptibility genes in Turkish population. ...More than 95% of these variants wer …
Inherited pathogenic variants account for 5% to 10% of all breast cancer (BC) and colorectal cancer (CRC) cases. Here, we soug …
Molecular pathology of Lynch syndrome.
Cerretelli G, Ager A, Arends MJ, Frayling IM. Cerretelli G, et al. J Pathol. 2020 Apr;250(5):518-531. doi: 10.1002/path.5422. J Pathol. 2020. PMID: 32141610 Review.
Lynch syndrome (LS) is characterised by predisposition to colorectal, endometrial, and other cancers and is caused by inherited pathogenic variants affecting the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2. ...Resources such as the International Socie …
Lynch syndrome (LS) is characterised by predisposition to colorectal, endometrial, and other cancers and is caused by inherited patho …
2,691 results