Results 1 to 10 of about 837,511 (259)

Highly Efficient Generation of Germline Mutations Using CRISPR/Cas9 in the Speckled Wood Butterfly Pararge aegeria [PDF]

Ecology and Evolution
To date, the use of CRISPR/Cas9 technology in ecological‐model species for validating genotype to phenotype connections has focused primarily on visual phenotypes using G0 mutations, coupled with analyses of resulting mosaic phenotypes.
Anna B. Shoshan, Kalle Tunström, Christopher W. Wheat, Karl Gotthard   +3 more
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A High Percentage of NSCLC With Germline CHEK2 Mutation Harbors Actionable Driver Alterations: Survey of a Cancer Genomic Database and Review of Literature

JTO Clinical and Research Reports, 2022
Introduction: Germline CHEK2 mutations are rare and have not been associated with increased risk of NSCLC. Methods: We identified two sequential primary NSCLCs harboring distinct actionable driver alterations (EGFR E746 _S752 delinsV and CD74-ROS1) in a ...
Shannon S. Zhang, MD, Jessica K. Lee, MSc, Hanna Tukachinsky, PhD, Alexa B. Schrock, PhD, Misako Nagasaka, MD, PhD, Sai-Hong Ignatius Ou, MD, PhD   +5 more
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Analysis of BRCA Germline Mutations in Chinese Prostate Cancer Patients

Frontiers in Oncology, 2022
Recent studies have indicated that prostate cancer (PCa) with BRCA2 mutations is more aggressive. However, these reports mostly focused on Caucasus populations, and large-scale studies on BRCA mutations in Chinese PCa populations remain limited.
Wei Chen, Wei Xia, Song Xue, Hang Huang, Qi Lin, Yi Liu, Tongtong Liu, Yiqun Zhang, Panwang Zhang, Jianfei Wang, Yining Yang, Baijun Dong, Zhixian Yu   +12 more
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Germline mutations in penetrant cancer predisposition genes are rare in men with prostate cancer selecting active surveillance

Cancer Medicine, 2022
Background Pathogenic germline mutations in several rare penetrant cancer predisposition genes are associated with an increased risk of aggressive prostate cancer (PC).
Lauren Brady, Lisa F. Newcomb, Kehao Zhu, Yingye Zheng, Hilary Boyer, Navonil De Sarkar, Jesse K. McKenney, James D. Brooks, Peter R. Carroll, Atreya Dash, William J. Ellis, Christopher P. Filson, Martin E. Gleave, Michael A. Liss, Frances Martin, Todd M. Morgan, Ian M. Thompson, Andrew A. Wagner, Colin C. Pritchard, Daniel W. Lin, Peter S. Nelson   +20 more
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Unique ethnic features of DDX41 mutations in patients with idiopathic cytopenia of undetermined significance, myelodysplastic syndrome, or acute myeloid leukemia

Haematologica, 2021
DDX41 mutations are associated with hematologic malignancies including myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), but the incidence in idiopathic cytopenia of undetermined significance (ICUS) is unknown.
Eun-Ji Choi, Young-Uk Cho, Eun-Hye Hur, Seongsoo Jang, Nayoung Kim, Han-Seung Park, Jung-Hee Lee, Kyoo-Hyung Lee, Si-Hwan Kim, Sang-Hyun Hwang, Eul-Ju Seo, Chan-Jeoung Park, Je-Hwan Lee   +12 more
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Germline mutations among Polish patients with acute myeloid leukemia

Hereditary Cancer in Clinical Practice, 2021
Background A small but important proportion of patients (4–10 %) with AML have germline mutations. They can cause the development of AML at an earlier age, confer a higher risk of relapse or predispose to secondary leukemias, including therapy-related ...
Aneta Bąk, Katarzyna Skonieczka, Anna Jaśkowiec, Anna Junkiert-Czarnecka, Marta Heise, Maria Pilarska-Deltow, Stanisław Potoczek, Maria Czyżewska, Olga Haus   +8 more
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Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC

Hereditary Cancer in Clinical Practice, 2021
Background and purposes The pathogenic BRCA1/2 germline mutations contributed to Hereditary Breast and Ovarian Cancer (HBOC) susceptibility. The features of BRCA1/2 germline mutations in non-small cell lung cancer (NSCLC) have not been systematically ...
Zheyuan Xu, Yang Wang, Lan Wang, Fengxian Cui, Libin Zhang, Jian Xiong, Hao Peng   +6 more
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Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia

Scientific Reports, 2020
Acute myeloid leukemia (AML) is one of the most common types of leukemia. With the recent advances in sequencing technology and the growing body of knowledge on the genetics of AML, there is increasing concern about cancer predisposing germline mutations
Borahm Kim, Woobin Yun, Seung-Tae Lee, Jong Rok Choi, Keon Hee Yoo, Hong Hoe Koo, Chul Won Jung, Sun Hee Kim   +7 more
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Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers

Frontiers in Genetics, 2020
PALB2 is an important BRCAx candidate for familial breast cancers (FBC). PALB2 pathogenic variants (PVs) may not to conform to “two hit” paradigm. However, a recent study demonstrates that in the majority PALB2 germline mutant breast cancers, the loss of
Zhe-Yu Hu, Zhe-Yu Hu, Liping Liu, Liping Liu, Ning Xie, Ning Xie, Jun Lu, Jun Lu, Zhentian Liu, Yu Tang, Yu Tang, Yikai Wang, Jianbo Yang, Jianbo Yang, Jianbo Yang, Quchang Ouyang, Quchang Ouyang   +16 more
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ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia. [PDF]

PLoS ONE, 2018
To investigate Armadillo repeat-containing 5 (ARMC5) mutations in Chinese patients with familial and sporadic primary bilateral macronodular adrenal hyperplasia (PBMAH), we performed clinical data collection and ARMC5 sequencing for three PBMAH families ...
Liping Yu, Junqing Zhang, Xiaohui Guo, Xiaoyu Chen, Zhisong He, Qun He   +5 more
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