Results 71 to 80 of about 32,048 (238)

A Homozygous Mutation in MSH6 Causes Turcot Syndrome [PDF]

Clinical Cancer Research, 2005
Abstract Heterozygous mutations in one of the DNA mismatch repair genes cause hereditary nonpolyposis colorectal cancer (MIM114500). Turcot syndrome (MIM276300) has been described as the association of central nervous system malignant tumors and familial colorectal cancer and has been reported to be both a dominant and recessive disorder.
Madhuri R, Hegde, Belinda, Chong, Maria E, Blazo, Lip Hon E, Chin, Patricia A, Ward, Murali M, Chintagumpala, John Y, Kim, Sharon E, Plon, C Sue, Richards   +8 more
openaire   +2 more sources

S6K1 phosphorylates Cdk1 and MSH6 to regulate DNA repair

eLife, 2022
The mTORC1 substrate, S6 Kinase 1 (S6K1), is involved in the regulation of cell growth, ribosome biogenesis, glucose homeostasis, and adipogenesis. Accumulating evidence has suggested a role for mTORC1 signaling in the DNA damage response.
Amina Jbara, Vered Ben Hur, Adi Amar-Schwartz, Yuval Cohen, Georgina D Barnabas, Eliran Arbib, Zahava Siegfried, Bayan Mashahreh, Fouad Hassouna, Asaf Shilo, Mohammad Abu-Odeh, Michael Berger, Reuven Wiener, Rami Aqeilan, Tamar Geiger, Rotem Karni   +15 more
openaire   +3 more sources

Demographic and Clinical Characteristics of Early‐Onset Colorectal Cancer in Sweden and Finland: A Multicentre Retrospective Cohort Study Over Three Decades

Journal of Surgical Oncology, EarlyView.
ABSTRACT Colorectal cancer is the third most common cancer worldwide, and the proportion of individuals diagnosed under the age of 50 years, referred to as early‐onset colorectal cancer (EOCRC), is increasing. The aim of this study was to evaluate how the demographic and clinical features of EOCR in northern Sweden and Finland have changed over time ...
Melina Charalambidi, Tanja Hukkinen, Tuomas Kaprio, Sofia Edin, Mats Hjortborg, Cecilia Williams, Jaana Hagström, Caj Haglund, Richard Palmqvist, Karin Strigård, Camilla Böckelman, Ioannis Gkekas   +11 more
wiley   +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  

Attenuated adenomatous polyposis with MSH6 variation: two case reports

Medicine, 2023
Abstract Background: Adenomatous polyposis (AP) is a genetic disorder characterized by the occurrence of numerous adenomatous polyps in the colon and rectum and can be classified into classical AP (CAP) and attenuated AP (AAP). AAP is diagnosed when the number of observed adenomas is between 10 and 99.
Gi Won Ha, Min Ro Lee, Ae Ri Ahn, Myoung Ja Chung, Kyoung Min Kim   +4 more
openaire   +2 more sources

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

MSH6 as a prognostic biomarker in bladder cancer and its correlation with immunity

Scientific Reports
This study aims to investigate the role of MSH6 in the diagnosis and prognosis of bladder cancer and its association with immunity. Various analyses were conducted on The Cancer Genome Atlas (TCGA) data, and the results were validated using the Gene ...
Ning He, Lu-ri Bao, Peng-cheng Ma, Zhen-li Fu, Wu-niri Gao, Jing-yuan Wang, Li-Gang Chen, Yan Meng   +7 more
doaj   +1 more source

A case of Turcot’s syndrome type 1 with loss of immunoexpression of MSH6 in colon cancer and liver metastasis due to secondary somatic mutation in coding mononucleotide (C)8 tract: a case report

BMC Medical Genetics, 2020
Background Lynch syndrome (LS), which is known as a hereditary cancer syndrome, is distinguished by microsatellite instability, represented by the altered number of repetitive sequences in the coding and/or non-coding region. Immunohistochemical staining
Shintaro Akabane, Takao Hinoi, Kiwamu Akagi, Hideki Yamamoto, Haruki Sada, Yosuke Shimizu, Wataru Shimizu, Takeshi Sudo, Takashi Onoe, Kohei Ishiyama, Takahisa Suzuki, Hirofumi Tazawa, Naoto Hadano, Toshihiro Misumi, Masato Kojima, Haruna Kubota, Daiki Taniyama, Kazuya Kuraoka, Hirotaka Tashiro   +18 more
doaj   +1 more source

Human MSH6 Deficiency Is Associated with Impaired Antibody Maturation [PDF]

The Journal of Immunology, 2012
Abstract Ig class-switch recombination (Ig-CSR) deficiencies are rare primary immunodeficiencies characterized by defective switched isotype (IgG/IgA/IgE) production. Depending on the molecular defect, defective Ig-CSR may also be associated with impaired somatic hypermutation (SHM) of the Ig V regions. Although the mechanisms underlying
P. Gardes, M. Forveille, M.-A. Alyanakian, P. Aucouturier, D. Ilencikova, D. Leroux, N. Rahner, F. Mazerolles, A. Fischer, S. Kracker, A. Durandy   +10 more
openaire   +2 more sources

CHEK2, MCM3 and MSH6 may have a Potential Role as Molecular Markers of Screening in the Detection of Cervical Premalignant and Malignant Lesions: A Scoping Review

JLUMHS
Lesions of the uterine cervix, including neoplasia, are the foremost cause of female deaths worldwide. Cervical malignancy ranks as the third most common gynecological malignancy globally, with an increasing prevalence reported in Asia each year.
Gulfishan Zameer, Maham Javed, Saima Zaki, Bushra Nisar, Saba Khaliq, Nadia Naseem   +5 more
doaj   +1 more source