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

Year Number of Results
1994 2
1995 1
1996 5
1997 4
1998 5
1999 6
2000 13
2001 15
2002 13
2003 15
2004 14
2005 10
2006 16
2007 3
2008 1
2009 2
2010 2
2011 3
2012 5
2013 6
2014 7
2015 15
2016 10
2017 6
2018 7
2019 13
2020 3
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186 results
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Clinical implications of germline mutations in breast cancer genes: RECQL.
Bowden AR, Tischkowitz M. Bowden AR, et al. Breast Cancer Res Treat. 2019 Apr;174(3):553-560. doi: 10.1007/s10549-018-05096-6. Epub 2019 Jan 4. Breast Cancer Res Treat. 2019. PMID: 30610487 Free PMC article. Review.
Several subsequent studies in independent patient cohorts have provided further data on RECQL variant frequency in additional populations, some of which have brought in to question the increased breast cancer risk associated with RECQL mutations. ...Further studies …
Several subsequent studies in independent patient cohorts have provided further data on RECQL variant frequency in additional populat …
FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.
Nguyen-Dumont T, Myszka A, Karpinski P, Sasiadek MM, Akopyan H, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Kitsera N, Siekierzynska A, Southey MC. Nguyen-Dumont T, et al. BMC Med Genet. 2018 Jan 19;19(1):12. doi: 10.1186/s12881-018-0524-x. BMC Med Genet. 2018. PMID: 29351780 Free PMC article.
However, the clinical value of testing for mutations in RECQL and FANCM remains to be determined. In this study, we have characterised the spectrum of FANCM and RECQL mutations in women affected with breast or ovarian cancer from South-West Poland and West Ukraine. …
However, the clinical value of testing for mutations in RECQL and FANCM remains to be determined. In this study, we have characterise …
Germline RECQL mutations are associated with breast cancer susceptibility.
Cybulski C, Carrot-Zhang J, Kluźniak W, Rivera B, Kashyap A, Wokołorczyk D, Giroux S, Nadaf J, Hamel N, Zhang S, Huzarski T, Gronwald J, Byrski T, Szwiec M, Jakubowska A, Rudnicka H, Lener M, Masojć B, Tonin PN, Rousseau F, Górski B, Dębniak T, Majewski J, Lubiński J, Foulkes WD, Narod SA, Akbari MR. Cybulski C, et al. Nat Genet. 2015 Jun;47(6):643-6. doi: 10.1038/ng.3284. Epub 2015 Apr 27. Nat Genet. 2015. PMID: 25915596
We identified rare recurrent RECQL mutations in each population. In Quebec, 7 of 1,013 higher-risk breast cancer cases and 1 of 7,136 newborns carried the c.634C>T (p.Arg215*) variant (P = 0.00004). ...We conclude that RECQL is a breast cancer susceptibility gene …
We identified rare recurrent RECQL mutations in each population. In Quebec, 7 of 1,013 higher-risk breast cancer cases and 1 of 7,136 …
Low expression of RECQL is associated with poor prognosis in Chinese breast cancer patients.
Xu H, Xu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y. Xu H, et al. BMC Cancer. 2018 Jun 18;18(1):662. doi: 10.1186/s12885-018-4585-1. BMC Cancer. 2018. PMID: 29914420 Free PMC article.
Here, we explored the association between RECQL expression level and survival in patients with breast cancer. METHODS: In the first cohort, the RECQL mRNA expression level was evaluated in 774 primary breast cancer patients using a quantitative real-time PCR assay. …
Here, we explored the association between RECQL expression level and survival in patients with breast cancer. METHODS: In the first c …
Germline RECQL mutations in high risk Chinese breast cancer patients.
Kwong A, Shin VY, Cheuk IWY, Chen J, Au CH, Ho DN, Chan TL, Ma ESK, Akbari MR, Narod SA. Kwong A, et al. Breast Cancer Res Treat. 2016 Jun;157(2):211-215. doi: 10.1007/s10549-016-3784-1. Epub 2016 Apr 28. Breast Cancer Res Treat. 2016. PMID: 27125668
Recently, RECQL was reported as a new breast cancer susceptibility gene. RECQL belongs to the RECQ DNA helicase family which unwinds double strand DNA and involved in the DNA replication stress response, telomere maintenance and DNA repair. RECQL deficient mi …
Recently, RECQL was reported as a new breast cancer susceptibility gene. RECQL belongs to the RECQ DNA helicase family which u …
Analysis of a RECQL splicing mutation, c.1667_1667+3delAGTA, in breast cancer patients and controls from Central Europe.
Bogdanova N, Pfeifer K, Schürmann P, Antonenkova N, Siggelkow W, Christiansen H, Hillemanns P, Park-Simon TW, Dörk T. Bogdanova N, et al. Fam Cancer. 2017 Apr;16(2):181-186. doi: 10.1007/s10689-016-9944-y. Fam Cancer. 2017. PMID: 27832498
RECQL is a DNA helicase required for genomic stability. Two studies have recently identified RECQL as a novel breast cancer susceptibility gene. ...Further studies will be required to determine the clinical significance of testing for this RECQL mutation....
RECQL is a DNA helicase required for genomic stability. Two studies have recently identified RECQL as a novel breast cancer su
Mutations in RECQL Gene Are Associated with Predisposition to Breast Cancer.
Sun J, Wang Y, Xia Y, Xu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Lou H, Xie Y. Sun J, et al. PLoS Genet. 2015 May 6;11(5):e1005228. doi: 10.1371/journal.pgen.1005228. eCollection 2015 May. PLoS Genet. 2015. PMID: 25945795 Free PMC article.
Recent studies suggested that RECQL is involved in DNA double-strand break repair and it plays an important role in the maintenance of genomic stability. Therefore, we further screened the RECQL gene in an additional 439 unrelated familial breast cancer patients. In …
Recent studies suggested that RECQL is involved in DNA double-strand break repair and it plays an important role in the maintenance o …
RECQL: a new breast cancer susceptibility gene.
Banerjee T, Brosh RM Jr. Banerjee T, et al. Cell Cycle. 2015;14(22):3540-3. doi: 10.1080/15384101.2015.1066539. Cell Cycle. 2015. PMID: 26125302 Free PMC article.
RECQL pathogenic mutations were identified that truncated or disrupted the RECQL protein or introduced missense mutations in its helicase domain. RECQL mutations may serve as a useful biomarker for breast cancer. Targeting RECQL associated tumors with
RECQL pathogenic mutations were identified that truncated or disrupted the RECQL protein or introduced missense mutations in i
Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer.
Tervasmäki A, Mantere T, Hartikainen JM, Kauppila S, Lee HM, Koivuluoma S, Grip M, Karihtala P, Jukkola-Vuorinen A, Mannermaa A, Winqvist R, Pylkäs K. Tervasmäki A, et al. Int J Cancer. 2018 Jun 1;142(11):2286-2292. doi: 10.1002/ijc.31259. Epub 2018 Jan 31. Int J Cancer. 2018. PMID: 29341116 Free article.
As a result, two missense variants in genes involved in DNA replication, RECQL p.I156M and POLG p.L392V, the former involving genomic and the latter mitochondrial DNA replication, showed significant association with risk of breast cancer. ...Based on the current genetic da …
As a result, two missense variants in genes involved in DNA replication, RECQL p.I156M and POLG p.L392V, the former involving genomic …
Mutations in RECQL are not associated with breast cancer risk in an Australian population.
Li N, Rowley SM, Goode DL, Amarasinghe KC, McInerny S, Devereux L; LifePool Investigators, Wong-Brown MW, Lupat R, Lee JEA, Hughes S, Thompson ER, Zethoven M, Li J, Trainer AH, Gorringe KL, Scott RJ, James PA, Campbell IG. Li N, et al. Nat Genet. 2018 Oct;50(10):1346-1348. doi: 10.1038/s41588-018-0206-9. Nat Genet. 2018. PMID: 30224651 No abstract available.
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