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Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.
Delimitsou A, Fostira F, Kalfakakou D, Apostolou P, Konstantopoulou I, Kroupis C, Papavassiliou AG, Kleibl Z, Stratikos E, Voutsinas GE, Yannoukakos D. Delimitsou A, et al. Hum Mutat. 2019 May;40(5):631-648. doi: 10.1002/humu.23728. Epub 2019 Mar 9. Hum Mutat. 2019. PMID: 30851065
Genetic testing for cancer predisposition leads to the identification of a number of variants with uncertain significance. To some extent, variants of BRCA1/2 have been classified, in contrast to variants of other genes. ...Herein, the CHEK2 variant
Genetic testing for cancer predisposition leads to the identification of a number of variants with uncertain significance. To …
Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer.
Izatt L, Greenman J, Hodgson S, Ellis D, Watts S, Scott G, Jacobs C, Liebmann R, Zvelebil MJ, Mathew C, Solomon E. Izatt L, et al. Genes Chromosomes Cancer. 1999 Dec;26(4):286-94. Genes Chromosomes Cancer. 1999. PMID: 10534763
Forty-four germline sequence variants were detected by fluorescent chemical cleavage of mismatch of RT-PCR products. These included seven rare variants found in nine patients (three described for the first time), but no truncating mutations. ... …
Forty-four germline sequence variants were detected by fluorescent chemical cleavage of mismatch of RT-PCR products. These inc …
Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients.
Maia S, Cardoso M, Pinto P, Pinheiro M, Santos C, Peixoto A, Bento MJ, Oliveira J, Henrique R, Jerónimo C, Teixeira MR. Maia S, et al. PLoS One. 2015 Jul 15;10(7):e0132728. doi: 10.1371/journal.pone.0132728. eCollection 2015. PLoS One. 2015. PMID: 26176944 Free PMC article.
The G84E mutation has not been found in patients of African or Asian ancestry, which may carry other HOXB13 variants, indicating allelic heterogeneity depending on the population. ...Three different patients were found to carry in their germline DNA tw …
The G84E mutation has not been found in patients of African or Asian ancestry, which may carry other HOXB13 variants, indicati …
Germline and somatic mutations in cyclin-dependent kinase inhibitor genes CDKN1A, CDKN2B, and CDKN2C in sporadic parathyroid adenomas.
Costa-Guda J, Soong CP, Parekh VI, Agarwal SK, Arnold A. Costa-Guda J, et al. Horm Cancer. 2013 Oct;4(5):301-7. doi: 10.1007/s12672-013-0147-9. Epub 2013 May 29. Horm Cancer. 2013. PMID: 23715670 Free PMC article.
The possible role of cyclin-dependent kinase inhibitor (CDKI) genes was raised by recognition of cyclin D1 as a parathyroid oncogene, identification of rare germline mutations in CDKI genes in patients with multiple endocrine neoplasia type 1; that in …
The possible role of cyclin-dependent kinase inhibitor (CDKI) genes was raised by recognition of cyclin D1 as a parathyroid oncogene, ide
Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods.
Arora S, Huwe PJ, Sikder R, Shah M, Browne AJ, Lesh R, Nicolas E, Deshpande S, Hall MJ, Dunbrack RL Jr, Golemis EA. Arora S, et al. Cancer Biol Ther. 2017 Jul 3;18(7):519-533. doi: 10.1080/15384047.2017.1326439. Epub 2017 May 11. Cancer Biol Ther. 2017. PMID: 28494185 Free PMC article.
The cancer-predisposing Lynch Syndrome (LS) arises from germline mutations in DNA mismatch repair (MMR) genes, predominantly MLH1, MSH2, MSH6, and PMS2. A major challenge for clinical diagnosis of LS is the frequent identification of variants of uncert …
The cancer-predisposing Lynch Syndrome (LS) arises from germline mutations in DNA mismatch repair (MMR) genes, predominantly M …
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
Barnetson RA, Cartwright N, van Vliet A, Haq N, Drew K, Farrington S, Williams N, Warner J, Campbell H, Porteous ME, Dunlop MG. Barnetson RA, et al. Hum Mutat. 2008 Mar;29(3):367-74. doi: 10.1002/humu.20635. Hum Mutat. 2008. PMID: 18033691
Identification of germline mutations in DNA mismatch repair genes in colorectal cancer probands without an extensive family history can be problematic when ascribing relevance to cancer causation. ...Patient samples were screened for germline mutati
Identification of germline mutations in DNA mismatch repair genes in colorectal cancer probands without an extensive fa
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.
de Voer RM, Hahn MM, Weren RD, Mensenkamp AR, Gilissen C, van Zelst-Stams WA, Spruijt L, Kets CM, Zhang J, Venselaar H, Vreede L, Schubert N, Tychon M, Derks R, Schackert HK, Geurts van Kessel A, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP. de Voer RM, et al. PLoS Genet. 2016 Feb 22;12(2):e1005880. doi: 10.1371/journal.pgen.1005880. eCollection 2016 Feb. PLoS Genet. 2016. PMID: 26901136 Free PMC article.
Approximately 25-30% of colorectal cancer (CRC) cases are expected to result from a genetic predisposition, but in only 5-10% of these cases highly penetrant germline mutations are found. ...We searched for genes that were recurrently affected by rare vari
Approximately 25-30% of colorectal cancer (CRC) cases are expected to result from a genetic predisposition, but in only 5-10% of these cases …
A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing.
Zhang Y, Lu G, Hu Q, Wang X, Li C, Mao Y, Cui M. Zhang Y, et al. Biochem Biophys Res Commun. 2014 May 9;447(3):503-7. doi: 10.1016/j.bbrc.2014.04.014. Epub 2014 Apr 13. Biochem Biophys Res Commun. 2014. PMID: 24735542
In these variants, 9 were synonymous, 4 missense and 1 non-sense. In them, 2 rare variants (c.694C>T in APC and c.1690A>G in MSH2) might be the putative causal mutations for familial adenomatous polyposis (FAP) since the rarity of the muta …
In these variants, 9 were synonymous, 4 missense and 1 non-sense. In them, 2 rare variants (c.694C>T in APC a …
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