نتایج جستجو برای: chek2

تعداد نتایج: 669  

Journal: :PLOS ONE 2021

Purpose The purpose of this study was to compare the clinical characteristics and survival CHEK2 mutation positive negative patients diagnosed with bladder or kidney cancer. Materials methods 1016 402 cases cancer 8302 controls were genotyped for four variants: 1100delC, del5395, IVS2+1G>A I157T. Predictors determined among pathogenic variant carriers using Cox proportional hazards model. me...

Journal: :American Journal of Clinical Pathology 2022

Abstract Introduction/Objective Although the role of homologous recombination repair (HRR) machinery in breast cancer susceptibility has been clearly established, range and frequency HRR gene mutations vary profoundly different populations. Previously high incidence CHEK2 (Checkpoint kinase 2) was shown Eastern Europe, however, there is still limited data on rate their clinical implications Ukr...

Journal: :International Journal of Environmental Research and Public Health 2020

2018
Ana Catarina Freitas Ana Opinião Sofia Fragoso Hugo Nunes Madalena Santos Ana Clara Sandra Bento Ana Luis Jorge Silva Cecília Moura Bruno Filipe Patrícia Machado Sidónia Santos Saudade André Paula Rodrigues Joana Parreira Fátima Vaz

Background Hereditary breast and ovary cancer syndrome affects both genders but little is known about the uptake of genetic services by men. The objective of this study is to characterise the male population counselled through a multidisciplinary breast/ovarian program. Methods Descriptive analysis of male patients counselled from January 2000 to December 2015. Data in this analysis include n...

2012
Dominika Wokołorczyk

Association studies of candidate genes in DNA repair and cell cycle control pathways identified mutations associated with a susceptibility to prostate cancer in BRCA1, BRCA2, CHEK2, NBS1 and BRIP1 genes. Mutations in these genes confer 1.5to 6-fold increase in the risk of prostate cancer. In general, the risks associated with these mutations are higher in carriers who report family history of p...

Journal: :International journal of clinical and experimental medicine 2015
Xiaobin Jia Peng Liu Mingxia Zhang Tian Feng Hongtao Tang Zhigang Tang Huaqian Zhao Tianbo Jin

OBJECTIVE A number of recently published genome-wide association studies (GWAS) identified several genetic loci at 6p21, 10q23, 16q12 and 22q12 that were associated with digestive tract tumors, including esophageal cancer (EC). We conducted a case-control study in a Chinese Han population including 360 EC cases and 310 controls to evaluate whether these variants are related to EC susceptibility...

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