Results 61 to 70 of about 23,834 (214)

HNPCC: Six new pathogenic mutations

BMC Medical Genetics, 2004
Background Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant disease with a high risk for colorectal and endometrial cancer caused by germline mutations in DNA mismatch-repair genes (MMR). HNPCC accounts for approximately 2 to 5%
Epplen Joerg T, Hahn Stephan A, Brasch Frank E, Vieland Judith, Kunstmann Erdmute, Schulmann Karsten, Schmiegel Wolff   +6 more
doaj   +1 more source

Colorectal Cancer Screening in Hereditary and Familial High‐Risk Populations: Best Practices and Future Directions

International Journal of Cancer, EarlyView.
ABSTRACT Colorectal cancer (CRC) remains a leading cause of cancer‐related morbidity and mortality worldwide yet is largely preventable through effective screening and surveillance. While most CRC cases are sporadic, a substantial proportion occur in individuals at increased risk due to hereditary cancer syndromes or family history who require tailored
Ophir Gilad, Francesc Balaguer, Elizabeth E. Half, Kevin J. Monahan, Elena M. Stoffel, Sonia S. Kupfer   +5 more
wiley   +1 more source

Elucidating MSH6 as a novel regulator of PD-L1 expression [PDF]

Immune checkpoint blockade (ICB) has shown great therapeutic promise, but response rates vary and definitive biomarkers for predicting response are lacking. In 2017, the FDA approved pembrolizumab, an anti-PD-1 therapy, for all unresectable or metastatic
Brooksbank, K
core   +3 more sources

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

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

Is Less More? An Update on Aspirin for Cancer Prevention in Lynch Syndrome From the Cancer Prevention Programme—CaPP

International Journal of Cancer, EarlyView.
ABSTRACT Aspirin has been used to treat pain and fever for 120 years. Its uses expanded into treating arthritis and prevention of thrombotic events. Its anti‐cancer role emerged with observational studies in the 1980's and subsequent cancer review in those treated with aspirin in cardiovascular trials.
John Burn, D. Timothy Bishop
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

Urinary and Faecal Amino‐Acids as Biomarkers for Colorectal Neoplasia in Lynch Syndrome—A Prospective Longitudinal Study

International Journal of Cancer, EarlyView.
ABSTRACT In Lynch syndrome, colonoscopy surveillance for colorectal cancer (CRC) is burdensome and post‐colonoscopy CRCs still occur. Unlike the faecal immunochemical test (FIT), gut metabolomic alterations including amino‐acids have shown potential as non‐invasive biomarkers for detecting both advanced and non‐advanced sporadic colorectal neoplasia ...
Roza C. M. Opperman, Elsa L. S. A. van Liere, Animesh Acharjee, Sudip Mondal, Eduard A. Struys, Andreas Antoniadis, Jasmijn E. B. de Boer, Shivra R. Siriram, Abdellatif Bakkali, Sofie Bosch, Maarten A. J. M. Jacobs, Jan Jacob Koornstra, Johan P. Kuijvenhoven, Monique E. van Leerdam, Manon C. W. Spaander, Tim G. J. de Meij, Evelien Dekker, Dewkoemar Ramsoekh, Nanne K. H. de Boer   +18 more
wiley   +1 more source

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

Impact of ovarian preservation on survival for premenopausal women with early‐stage endometrial carcinoma: A systematic review and meta‐analysis

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective Up to 14% of women with early‐stage endometrial carcinoma (EEC) are diagnosed before menopause. Although ovarian preservation (OP) within surgical staging might avoid surgical menopause, its rate remains low in clinical practice, probably because the impact of OP on survival outcomes is unclear.
Antonio Raffone, Diego Raimondo, Daniele Neola, Manuela Maletta, Marisol Doglioli, Antonio Travaglino, Carlo Ronsini, Maria Giovanna Vastarella, Stefano Ferla, Francesco Cosentino, Pasquale De Franciscis, Renato Seracchioli, Luigi Cobellis   +12 more
wiley   +1 more source