نتایج جستجو برای: chek2

تعداد نتایج: 669  

Journal: :Koloproktologiâ 2022

Aim: to reveal hereditary mutations in patients with adenomatous polyps of the gastrointestinal tract. Patients and methods: a retrospective cohort study included 8 tract (ranging from 4 several hundred). The APC, AXIN2, BMPR1A, BRCA2, CDH1, CHEK2, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MutYH, NTHL1, PMS2, POLD1, POLE, SMAD4, STK11 genes were studied using new generation sequencin...

2012
Florence Le Calvez-Kelm Javier Oliver Francesca Damiola Nathalie Forey Nivonirina Robinot Geoffroy Durand Catherine Voegele Maxime P. Vallée Graham Byrnes Breast Cancer Family Registry John L. Hopper Melissa C. Southey Irene L. Andrulis Esther M. John Sean V. Tavtigian Fabienne Lesueur

BACKGROUND Although inherited breast cancer has been associated with germline mutations in genes that are functionally involved in the DNA homologous recombination repair (HRR) pathway, including BRCA1, BRCA2, TP53, ATM, BRIP1, CHEK2 and PALB2, about 70% of breast cancer heritability remains unexplained. Because of their critical functions in maintaining genome integrity and already well-establ...

2014
Ghim Siong Ow Anna V Ivshina Gloria Fuentes Vladimir A Kuznetsov

High-grade serous ovarian cancer (HG-SOC), a major histologic type of epithelial ovarian cancer (EOC), is a poorly-characterized, heterogeneous and lethal disease where somatic mutations of TP53 are common and inherited loss-of-function mutations in BRCA1/2 predispose to cancer in 9.5-13% of EOC patients. However, the overall burden of disease due to either inherited or sporadic mutations is no...

Journal: :Hereditary Cancer in Clinical Practice 2012

Journal: :Polish Journal of Pathology 2023

AMA Jakub R, Filip M, Daniel B, et al. Nuclear expression of Ku70/80 is associated with chek2 germline mutations in breast cancer. Polish Journal Pathology. 2023. doi:10.5114/pjp.2023.129518. APA Jakub, R., Filip, M., Daniel, B., Jolanta, H., Tomasz, & Cezary, C. (2023). https://doi.org/10.5114/pjp.2023.129518 Chicago Rosik, Machaj Bodnar Hybiak Huzarski Cybulski and Lubiński Jan "Nuclear cance...

2017
Tomasz Huzarski Barbara Górecka-Szyld Jowita Huzarska Grażyna Psut-Muszyńska Grażyna Wilk Robert Sibilski Cezary Cybulski Beata Kozak-Klonowska Monika Siołek Ewa Kilar Dorota Czudowska Hanna Janiszewska Dariusz Godlewski Andrzej Mackiewicz Joanna Jarkiewicz-Tretyn Jadwiga Szabo-Moskal Jacek Gronwald Jan Lubiński Steven A. Narod T Byrski T Dębniak A Tołoczko-Grabarek O Oszurek M Michalak H Rogowska-Droś E Szatkowska R Kulus W Kwiecień L Szyiński I Winiarska P Kasprzak L Tomiak-Rówińska M Kosterska-Spalska T Dróżdż P Sosnowski

BACKGROUND The addition of MRI to mammography and ultrasound for breast cancer screening has been shown to improve screening sensitivity for high risk women, but there is little data to date for women at average or intermediate risk. METHODS Two thousand nine hundred and ninety-five women, aged 40 to 65 years with no previous history of breast cancer were enrolled in a screening program, whic...

2011
C Cybulski D Wokołorczyk

Prostate cancer is among the leading causes of morbidity and mortality from cancer in men. Epidemiologic data suggest that dominant susceptibility genes may be responsible for 5%-10% of all of the cases and 30-40% of early onset cases. Familial clustering of prostate cancer is observed in 10-20% of men with prostate cancer. Scandinavian study of twins suggests that the heritability of prostate ...

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