Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 10 of 10 for “"Chek2"”.
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Genetic Testing Uptake and Yield in Patients with Male Breast Cancer
… <em>BRCA2</em>, <em>CDH1</em>, <em>CHEK2</em>, <em>NF1</em>, <em>PALB2</em>, <em>PTEN</em>, <em>RAD51C</em>, <em>RAD51D</em>, <em>STK11</em>, and <em>TP53</em>, and compare genetic testing uptake and yield of gPV in the clinically actionable genes for MBC: <em>BRCA1</em>, …
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Rare Genetic Variants and Cancer Susceptibility
… missense variants in ATM, BARD1, BRCA1, BRCA2, CHEK2, RAD51C, RAD51D, PALB2 and TP53. However, these variants together explain less than half the familial relative risk of breast cancer. Similarly for other cancers, GWAS have identified many susceptibility loci and rare variants have been …
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Γενετική ανάλυση στον κληρονομικό καρκίνο του μαστού
… ανάλυση 21 γονιδίων (BRCA1, BRCA2, CHEK2, PALB2, BRIP1, TP53, PTEN, STK11, CDH1, ATM, BARD1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, RAD50, RAD51C) με την χρήση τεχνολογίας αλληλούχισης επόμενης γενεάς. Για το σκοπό αυτό αναλύθηκαν 42 ασθενείς με σοβαρό ιστορικό καρκίνο …
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Detection, causes and consequences of sex chromosome mosaicism
… on over 80,000 men from UK Biobank. As well as CHEK2, which had been identified on a previous GWAS on LOY, a novel gene, GIGYF1, was identified, in which loss-of-function variants increased the risk of LOY and Type 2 diabetes (T2D) by 6-fold. This finding illuminated the potential link between …
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Immunohistochemical and molecular studies on ovarian cancer progression and prognosis
… prognosis in EOC were identified, i.e. Chek1, Chek2 and minichromosome maintenance complex component 3 (MCM3). Paper III provides a first description of expression of the Dachshund 2 (DACH2) protein in any form of human cancer, after its identification in the Human Protein Atlas portal. DACH2 …
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Integrated data analytics of germline mutation classes in human cancers. An integrated bioinformatics analysis to investigate associations between germline mutation classes and human cancers.
… evident that BRCA1, MSH6, BARD1, TP53, MSH2 and CHEK2 proteins best connected Breast, Ovarian, Prostate and Bowel primary cancers, and so the latter could represent ¿driver proteins¿ for these cancers. In summary, this project has approached the analysis of gene involvement in human primary …
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Integrated data analytics of germline mutation classes in human cancers. An integrated bioinformatics analysis to investigate associations between germline mutation classes and human cancers.
… evident that BRCA1, MSH6, BARD1, TP53, MSH2 and CHEK2 proteins best connected Breast, Ovarian, Prostate and Bowel primary cancers, and so the latter could represent ¿driver proteins¿ for these cancers. In summary, this project has approached the analysis of gene involvement in human primary …
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Elucidating the constitutional genetic basis of multiple primary tumours
… of variants affecting known CPGs (CHEK2, PALB2, MAX, NF1) in some phenotypic subgroups. However, there was little evidence for novel loci relevant to cancer predisposition.
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Genetic basis of inherited kidney and related tumours
… 8%. Burden test analyses demonstrated excess of *CHEK2* variants in European RCC cases compared to controls (*P*=0.0019) and a trend of association with double strand homologous (DS HR) and nonhomologous repair (DS NHR) pathways. Candidate novel RCC genes were sought by familial studies on 13 …
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Using human genomics to decipher biological mechanisms underlying reproductive ageing and fertility in women
… women and men to well-established genes such as CHEK2, further reinforcing the link between cancer and reproductive ageing. Finally, I show that mothers with genetic susceptibility to earlier ovarian ageing have a higher rate of de novo mutations in their offspring. This provides direct evidence …