Results 51 to 60 of about 27,474 (197)

Mismatch Repair Deficient (dMMR) Colorectal Carcinoma in a Pakistani Cohort: Association With Clinical and Pathological Parameters

Cureus, 2023
Introduction Microsatellite instability (MSI) is an important pathway in colorectal carcinoma (CRC) pathogenesis. MSI occurs due to mutations in mismatch repair (MMR) genes that include MutL protein homolog 1 (MLH1), postmeiotic segregation increased 2 ...
A. Hashmi, Ummara Bukhari, Ramish Rizwan, Faiza Faisal, Ravi Kumar, U. Malik, Shamail Zia, Abdur Rahim Khan, Sunder Sham, M. Irfan   +9 more
semanticscholar   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Comparison of Microsatellite Instability (MSI) and Microsatellite Stable (MSS) Invasive Breast Carcinoma Cases In Terms Of Neoadjuvant Chemotherapy Response, ER/PR Status, CerbB2, and Ki-67

İstanbul Medical Journal
Introduction: Microsatellite instability (MSI) is a well-established biomarker in certain malignancies; however, its prognostic and predictive role in breast cancer remains unclear. This study aimed to compare invasive breast carcinoma cases with MSI and
Özgecan Gündoğar, Sibel Bektaş, Emine Yıldırım, Merve Cin, Selçuk Cin, Canan Kelten Talu   +5 more
doaj   +1 more source

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

Development of Mismatch Repair-Fluorescent Protein Fusion for Single Molecule Imaging [PDF]

, 2018
DNA mismatch repair (MMR) is an essential process for maintaining genome integrity. Defective MMR can lead to the hereditary cancer predisposition Lynch Syndrome, as well as 10-40% of related cancers1.
Mangels, Joshua
core  

Clinical Implication of DNA Damage Response Genes in Advanced Gastric Cancer Stage IV and Recurrent Gastric Cancer Patients After Gastrectomy Treated Palliative Chemotherapy

Journal of Cancer, 2023
Purpose: This study aimed to investigate the relationship between DNA damage response (DDR)-related protein expression and the clinical outcomes of patients with gastric cancer stage IV and recurrent advanced gastric cancer patients after gastrectomy ...
J. E. Kim, Song-Ee Park, Heejin Kim, I. Hwang   +3 more
semanticscholar   +1 more source

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

DNA Checkpoint and Repair Factors Are Nuclear Sensors for Intracellular Organelle Stresses-Inflammations and Cancers Can Have High Genomic Risks. [PDF]

, 2018
Under inflammatory conditions, inflammatory cells release reactive oxygen species (ROS) and reactive nitrogen species (RNS) which cause DNA damage. If not appropriately repaired, DNA damage leads to gene mutations and genomic instability.
Chen, Hongping, Choi, Eric T., Cueto, Ramon, Drosatos, Konstantinos, Fu, Hangfei, Nanayakkara, Gayani K, Park, Joon Y., Qin, Xuebin, Shao, Lijian, Shao, Ying, Sheng, Haitao, Sun, Jianxin, Sun, Yu, Wang, Hong, Wang, Luqiao, Wu, Na, Yang, Qian, Yang, William Y, Yang, Wuping, Yang, Xiaofeng, Zeng, Huihong, Zhu, Qingxian   +21 more
core   +2 more sources

BRAFV600E mutation and its association with clinicopathological features of colorectal cancer: a systematic review and meta-analysis.

PLoS ONE, 2014
BackgroundColorectal cancer (CRC) is a heterogeneous disease with multiple underlying causative genetic mutations. The B-type Raf proto-oncogene (BRAF) plays an important role in the mitogen-activated protein kinase (MAPK) signaling cascade during CRC ...
Dong Chen, Jun-Fu Huang, Kai Liu, Li-Qun Zhang, Zhao Yang, Zheng-Ran Chuai, Yun-Xia Wang, Da-Chuan Shi, Qing Huang, Wei-Ling Fu   +9 more
doaj   +1 more source