Results 61 to 70 of about 837,511 (259)

KaLwRij novel germline missense, stoploss, and stopgain mutations.

, 2015
KaLwRij novel germline missense, stoploss, and stopgain mutations.
Yalin Xu (566778), Celine M. Vachon (219498), Pengyuan Liu (32609), Liang Chu (126831), Julie O’Neal (285759), Katherine N. Weilbaecher (234132), Anthony Gramolini (746692), Xinming Su (746690), Michael H. Tomasson (280937), Daniel Serie (746689), Sarah R. Amend (746688), Dingyan Wang (746691), Xiao-Yan Wen (694063), Graham Colditz (746694), Michelle Hurchla (746693), Ravi Vij (426701), Lan Lu (426698), William C. Wilson (428467)   +17 more
core   +1 more source

BRCA1 and BRCA2 mutations in a population-based study of male breast cancer [PDF]

, 2001
Background: The contribution of BRCA1 and BRCA2 to the incidence of male breast cancer (MBC) in the United Kingdom is not known, and the importance of these genes in the increased risk of female breast cancer associated with a family history of breast ...
Bruce AJ Ponder, Julian M Lipscombe, Joanna M Ward, Basham, VM, Easton, DF, Ward, JM, Ponder, BAJ, Victoria M Basham, Simon A Gayther, Paul DP Pharoah, Lipscombe, JM, Douglas F Easton, Pharoah, PDP, Gayther, SA   +13 more
core   +2 more sources

Unique circulating miRNAome signatures captured with distinct molecular states in Lynch syndrome and sporadic colorectal cancer

Molecular Oncology, EarlyView.
Circulating microRNA profiles distinguish nonmalignant Lynch syndrome from cancer‐associated Lynch syndrome, sporadic colorectal cancer, and healthy controls. Age‐stratified analysis reveals disease‐specific regulatory states, and a six‐miRNA panel shows concordant separation in an independent colorectal tissue cohort.
Ramadhani Salum Chambuso, Md Shohel Ul Islam, Rosa M Xicola, Raj Ramesar, Xavier Llor, Sinclair Steele   +5 more
wiley   +1 more source

Germline fitness based scoring of cancer mutations

, 2011
A key goal in cancer research is to find the genomic alterations which underlie malignant cells. Genomics has proven successful in identifying somatic variants at a large scale. However, it has become evident that a typical cancer exhibits a heterogenous
Andrej Fischer, Greenman, Chris, Chris Greenman, Fischer, Andrej, Ville Mustonen, Mustonen, Ville   +5 more
core   +1 more source

Spatial heterogeneity of hotspot mutations and clonal relatedness in ovarian endometrioid carcinoma

Molecular Oncology, EarlyView.
Spatially resolved analysis revealed heterogeneous distributions of selected cancer‐associated mutations within ovarian endometrioid carcinomas. Shared mutations between paired endometrial and ovarian tumors supported clonal relatedness. These findings highlight the value of sampling multiple tumor regions when interpreting molecular profiles ...
Takahito Ashihara, Kosuke Murakami, Shiro Takamatsu, Akiko Kanto, Seiichi Mori, Tomoyuki Otani, Kazuko Sakai, Yasushi Kotani, Kazuto Nishio, Kaoru Abiko, Noriomi Matsumura   +10 more
wiley   +1 more source

Delineation of the Germline and Somatic Mutation Interaction Landscape in Triple-Negative and Non-Triple-Negative Breast Cancer

International Journal of Genomics, 2020
Background. Breast cancer development and progression involve both germline and somatic mutations. High-throughput genotyping and next-generation sequencing technologies have enabled discovery of genetic risk variants and acquired somatic mutations ...
Jiande Wu, Tarun K. K. Mamidi, Lu Zhang, Chindo Hicks   +3 more
doaj   +1 more source

Small RNA pathways in mammalian oocytes

FEBS Open Bio, EarlyView.
Three distinct small RNA pathways operate in mammalian oocytes: RNAi interference (RNAi), the microRNA (miRNA) pathway, and the PIWI‐associated RNA (piRNA) pathway. These pathways use small RNAs to guide sequence‐specific repression and contribute to oocyte biology by targeting genes and mobile elements or appear insignificant since different ...
Petr Svoboda, Josef Pasulka
wiley   +1 more source

ATZ‐1 promotes DNA replication efficiency to maintain normal meiotic function

FEBS Open Bio, EarlyView.
Absence of ATZ‐1 interferes with meiotic DNA replication and cell cycle function via CHK‐1. This causes downstream defects associated with DNA damage and genomic integrity. Taken together, this study suggests that ATZ‐1 influences DNA replication efficiency and cell cycle function to maintain normal meiotic function.
Taylin E. Gourley, Luke W. Molesworth, Nethma H. Waduge, Fahimeh Eskandari, Peter R. Boag, Gregory M. Davis   +5 more
wiley   +1 more source

Comprehensive genomic profiling of Chinese lung cancer characterizes germline-somatic mutation interactions influencing cancer risk

Journal of Translational Medicine
Background Germline mutations in numerous genes, particularly tumor suppressor genes, markedly heighten the risk of various cancers, including lung cancer, which is the leading cause of cancer-related deaths worldwide.
Ning Zhou, Yuanyuan Xu, Yumin Huang, Guoxiang Ye, Liang Luo, Zuodong Song   +5 more
doaj   +1 more source

Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis

, 2016
Somatic mutations of KIT are frequently found in mastocytosis and gastrointestinal stromal tumor (GIST), while germline mutations of KIT are rare, and only found in few cases of familial GIST and mastocytosis.
Kazi, Julhash U., Zhao, Hui, Hui Zhao, Ke, Hengning,, Ke, Hengning, Sun, Jianmin,, Jianmin Sun, Julhash U. Kazi, Hengning Ke, Kazi, Julhash U.,, Sun, Jianmin, Lund University., Zhao, Hui,   +12 more
core   +1 more source