Zobrazeno 1 - 10
of 212
pro vyhledávání: '"familial ovarian cancer"'
Autor:
Wejdan M. Alenezi, Caitlin T. Fierheller, Corinne Serruya, Timothée Revil, Kathleen K. Oros, Deepak N. Subramanian, Jeffrey Bruce, Dan Spiegelman, Trevor Pugh, Ian G. Campbell, Anne-Marie Mes-Masson, Diane Provencher, William D. Foulkes, Zaki El Haffaf, Guy Rouleau, Luigi Bouchard, Celia M. T. Greenwood, Jiannis Ragoussis, Patricia N. Tonin
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
Not all familial ovarian cancer (OC) cases are explained by pathogenic germline variants in known risk genes. A candidate gene approach involving DNA repair pathway genes was applied to identify rare recurring pathogenic variants in familial OC cases
Externí odkaz:
https://doaj.org/article/05d239ab593d4e42b75d51380a913fb1
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-9 (2022)
Abstract Background Ovarian cancer (OC) is considered a leading cause of death among women with gynecological malignancies. OC, like breast cancer, shows a familial predisposition to germline mutations in genes BRCA1 or BRCA2, which have proved to pl
Externí odkaz:
https://doaj.org/article/247922d45a754f96991fdba0b6ea46b5
Autor:
A. Isselhard, M. Töpper, B. Berger-Höger, A. Steckelberg, H. Fischer, F. Vitinius, K. Beifus, J. Köberlein-Neu, R. Wiedemann, K. Rhiem, R. Schmutzler, S. Stock
Publikováno v:
Trials, Vol 21, Iss 1, Pp 1-13 (2020)
Abstract Background Female BRCA mutation carriers have an increased lifetime risk for breast and ovarian cancer compared to the general population. Women who carry this mutation have several options to deal with their cancer risk, such as risk-reduci
Externí odkaz:
https://doaj.org/article/daa95e56d113416294be0046a2391f3e
Publikováno v:
BMC Medical Informatics and Decision Making, Vol 19, Iss 1, Pp 1-13 (2019)
Abstract Background Female BRCA1 and BRCA2 mutation carriers have an increased lifetime risk of developing breast and/or ovarian cancer. Hence, they face the difficult decision of choosing a preventive strategy such as risk-reducing surgeries or inte
Externí odkaz:
https://doaj.org/article/b05c7431a5d2498e89d83d50ee30ad0e
Autor:
Wen-Ming Cao, Ya-Bing Zheng, Yun Gao, Xiao-Wen Ding, Yan Sun, Yuan Huang, Cai-Jin Lou, Zhi-Wen Pan, Guang Peng, Xiao-Jia Wang
Publikováno v:
BMC Cancer, Vol 19, Iss 1, Pp 1-8 (2019)
Abstract Background Mutated BRCA1/2 genes are associated with hereditary breast and ovarian cancer (HBOC). So far most of the identified BRCA1/2 pathogenic variants are single nucleotide variants (SNVs) or insertions/deletions (Indels). However, larg
Externí odkaz:
https://doaj.org/article/b47b7843ef124fb8ae4d0b9fb9c9cc32
Publikováno v:
BMC Cancer, Vol 19, Iss 1, Pp 1-12 (2019)
Abstract Background To systematically assess the prevalence of BRCA1 and BRCA2 gene mutations in women with Hereditary Breast and/or Ovarian Cancer (HBOC) in Arab countries and to describe the variability in the BRCA gene mutations in different regio
Externí odkaz:
https://doaj.org/article/b2c683cb38f84065b1b86d8dacd7ee5e
Publikováno v:
Journal of the American Statistical Association, 1998 Jun 01. 93(442), 518-525.
Externí odkaz:
https://www.jstor.org/stable/2670099
Autor:
Zhi-Wen Pan, Xiao-Jia Wang, Tianhui Chen, Xiao-Wen Ding, Xiyi Jiang, Yun Gao, Wen-Ju Mo, Yuan Huang, Cai-Jin Lou, Wen-Ming Cao
Publikováno v:
Frontiers in Oncology, Vol 9 (2019)
Introduction:FANCC is reported as a novel susceptibility gene for breast cancer, however, its mutation remains unclear in Chinese population. We aimed to identify the germline mutations of FANCC in high-risk breast cancer patients in China.Methods: 2
Externí odkaz:
https://doaj.org/article/dbf7992881b44d80bd3c1f5b9223e936
Autor:
Wejdan M. Alenezi, Caitlin T. Fierheller, Timothée Revil, Corinne Serruya, Anne-Marie Mes-Masson, William D. Foulkes, Diane Provencher, Zaki El Haffaf, Jiannis Ragoussis, Patricia N. Tonin
Publikováno v:
Genes; Volume 13; Issue 4; Pages: 697
Background: Detecting pathogenic intronic variants resulting in aberrant splicing remains a challenge in routine genetic testing. We describe germline whole-exome sequencing (WES) analyses and apply in silico predictive tools of familial ovarian canc
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