Results 71 to 80 of about 21,552 (215)

Promoter methylation of MLH1, PMS2, MSH2 and p16 is a phenomenon of advanced-stage HCCs. [PDF]

PLoS ONE, 2014
Epigenetic silencing of tumour suppressor genes has been observed in various cancers. Looking at hepatocellular carcinoma (HCC) specific protein silencing was previously demonstrated to be associated with the Hepatitis C virus (HCV).
Inga Hinrichsen, Matthias Kemp, Jan Peveling-Oberhag, Sandra Passmann, Guido Plotz, Stefan Zeuzem, Angela Brieger   +6 more
doaj   +1 more source

BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature. [PDF]

, 2019
BackgroundHereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in "novel" genes as conferring an increased risk of ...
Ali, Mir, Chaudhary, Uzair, Delozier, Celia Dawn   +2 more
core  

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Colorectal Carcinoma in a Young Male Diagnosed as Lynch Syndrome with a Rare PMS2 Pathogenic Germline Variant: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Colorectal cancers in young people can be due to inherited mutations in 5-10% of cases, among which Lynch syndrome is the most common. Lynch syndrome is defined as a genetic susceptibility to various types of cancer, with non polyposis colorectal cancer ...
Vijayashree S Gokhale, Vineetha Naga Lakshmi Giduturi, Mahabir Prasad Mishra, Mayur Ambekar, Dnyanada Shrirang Gokhale-Agashe   +4 more
doaj   +1 more source

PMS2 amplification contributes brain metastasis from lung cancer

Biological Procedures Online
Background Lung adenocarcinoma metastasizing to the brain results in a notable increase in patient mortality. The high incidence and its impact on survival presents a critical unmet need to develop an improved understanding of its mechanisms.
Jianing Chen, Congli Hu, Hainan Yang, Li Wang, Xiangling Chu, Xin Yu, Shiji Zhang, Xuefei Li, Chao Zhao, Lei Cheng, Weiping Hong, Da Liu, Lei Wen, Chunxia Su   +13 more
doaj   +1 more source

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012 [PDF]

European Journal of Human Genetics, 2012
Update to: European Journal of Human Genetics (2010) 18, 1069; doi:10.1038/ejhg.2009.232; published online 27 January ...
Nils, Rahner, Verena, Steinke, Brigitte, Schlegelberger, Francois, Eisinger, Pierre, Hutter, Sylviane, Olschwang   +5 more
openaire   +2 more sources

What Happens After Menopause (WHAM)? A Progress Report of a Prospective Controlled Study of Women After Pre‐Menopausal Risk‐Reducing Bilateral Salpingo‐Oophorectomy

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Surgical menopause, the removal of both ovaries prior to natural menopause, may impact short‐and long‐term physical and emotional health. An increasingly common cause of surgical menopause is risk‐reducing salpingo‐oophorectomy (RRSO) in those at high inherited risk of ovarian cancer.
Sarah A. L. Price, Pauline M. Maki, Samar R. El Khoudary, Alison Brand, Rakibul M. Islam, Susan M. Domchek, Hadine Joffe, Gita D. Mishra, Katrina M. Moss, Fiona C. Baker, Sabine Braat, John D. Wark, Martha Hickey   +12 more
wiley   +1 more source

Clinicopathological Characteristics of Colorectal Cancer Patients with Different Mismatch Repair Statuses and Their Correlation with KRAS/NRAS/BRAF Gene Mutations

Zhongliu Fangzhi Yanjiu
ObjectiveTo investigate the clinicopathological characteristics of colorectal cancer patients with different mismatch repair (MMR) statuses and their correlation with KRAS/NRAF/BRAF (KNB) gene mutations.
Jinchuan YU, Xuexue XIAO, Weiying HE, Yanan YANG, Junqiu YUE   +4 more
doaj   +1 more source

Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches [PDF]

, 2014
The Huntington's disease gene (HTT) CAG repeat mutation undergoes somatic expansion that correlates with pathogenesis. Modifiers of somatic expansion may therefore provide routes for therapies targeting the underlying mutation, an approach that is likely
Cohen, Paula E., Daly, Mark J., Dragileva, Ella, Gillis, Tammy, Guide, Jolene R., Holloway, Kim, Hou, Caixia, Kirby, Andrew, Li, Guo-Min, Lloret, Alejandro, Lopez, Edith, Panigrahi, Gagan B., Pearson, Christopher E., Pinto, Ricardo Mouro, St. Claire, Jason, Wheeler, Vanessa C.   +15 more
core   +1 more source

Integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant reveals universal TP53 abnormalities

Brain Pathology, EarlyView.
This integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant expands the spectrum of associated genetic changes and underscores the presence of universal TP53 abnormalities at copy number, sequence, and protein expression level, with frequent yet largely unrecognized TP53 copy‐neutral loss of ...
Jorge A. Trejo‐Lopez, Cinthya Zepeda Mendoza, Thomas M. Kollmeyer, Kristen L. Drucker, Vanessa M. Pazdernik, Paul A. Decker, Corinne E. Praska, Jayson Hardcastle, Stephanie Smoley, Matthew Isaacson, Mallika Gandham, Surendra Dasari, Aditya Raghunathan, Caterina Giannini, Gang Zheng, Aaron Wagner, M. Beatriz Lopes, Kar‐Ming A. Fung, JoElle G. Peterson, Andreana L. Rivera, Christopher Rossi, Meggen A. Walsh, Zied Abdullaev, Kenneth Aldape, Martha Quezado, Drew Pratt, Patrick Joseph Cimino, Robert B. Jenkins, Cristiane M. Ida   +28 more
wiley   +1 more source