Results 61 to 70 of about 19,899 (215)

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

Dimerization of MLH1 and PMS2 Limits Nuclear Localization of MutLα [PDF]

Molecular and Cellular Biology, 2003
DNA mismatch repair maintains genomic stability by detecting and correcting mispaired DNA sequences and by signaling cell death when DNA repair fails. The mechanism by which mismatch repair coordinates DNA damage and repair with cell survival or death is not understood, but it suggests the need for regulation. Since the functions of mismatch repair are
Xiaosheng, Wu, Jeffrey L, Platt, Marilia, Cascalho   +2 more
openaire   +2 more sources

Genotypes of Papillary Thyroid Carcinoma With High Lateral Neck Metastasis in Chinese Population

Frontiers in Oncology, 2022
Papillary Thyroid Carcinoma (PTC) is one of the most commonly diagnosed cancer types in China, characterized by its early age at diagnosis and high 25-year survival rate.
Wei Guo, Junwei Huang, Taiping Shi, Hanyuan Duan, Xiaohong Chen, Zhigang Huang   +5 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

Subcellular localization of single expressed MLH1 and PMS2 variants.

, 2013
HEK293T cells were transfected with different MLH1 or PMS2 constructs as indicated to the left. MLH1 and PMS2 were visualized after 48 h using confocal laser microscopy.
Ronja Adam (333161), Guido Plotz (22851), Inga Hinrichsen (333159), Angela Brieger (333158), Sandra Passmann (333160), Stefan Zeuzem (22856)   +5 more
core   +1 more source

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

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

SNP association study in PMS2-associated Lynch syndrome [PDF]

Familial Cancer, 2017
Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly on MLH1, MSH2 and MSH6 carriers, with conflicting results.
Broeke, S.W. ten, Elsayed, F.A., Pagan, L., Olderode-Berends, M.J.W., Garcia, E.G., Gille, H.J.P., Hest, L.P. van, Letteboer, T.G.W., Kolk, L.E. van der, Mensenkamp, A.R., Os, T.A. van, Spruijt, L., Redeker, B.J.W., Suerink, M., Vos, Y.J., Wagner, A., Wijnen, J.T., Steyerberg, E.W., Tops, C.M.J., Wezel, T. van, Nielsen, M.   +20 more
openaire   +10 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