Results 11 to 20 of about 1,020 (131)

Genotype-phenotype correlations in PMS2-associated constitutional mismatch repair deficiency: a systematic literature review [PDF]

Oncology Reviews
Constitutional mismatch repair deficiency (CMMRD) is a rare pediatric cancer predisposition syndrome primarily characterised by central nervous system (CNS), gastro-intestinal (GI) tumours and hematological malignancies, along with NF1-like cutaneous ...
Cătălin Vasile Munteanu, Cătălin Vasile Munteanu, Diana Luisa Lighezan, Diana Luisa Lighezan, Alexandru Capcelea, Alexandru Capcelea, Adela Chiriță-Emandi, Adela Chiriță-Emandi, Adela Chiriță-Emandi, Adrian Pavel Trifa, Adrian Pavel Trifa, Adrian Pavel Trifa   +11 more
doaj   +3 more sources

This is not Lynch syndrome: lessons from misattributed diagnoses in constitutional mismatch repair deficiency [PDF]

ESMO Gastrointestinal Oncology
Background: Underdiagnosis of constitutional mismatch repair deficiency (CMMRD) syndrome leads to suboptimal cancer surveillance and management of CMMRD patients.
A.H. Mohammad, E. Rohr, A. Moise, R.M. Abdulsalam, W. Davalan, A. Rizzolo, A.S. Liberman, C. Goudie, L. Palma, W.D. Foulkes   +9 more
doaj   +3 more sources

Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency [PDF]

Nature Communications
Constitutional mismatch repair deficiency (CMMRD), caused by bi-allelic germline variants in mismatch repair (MMR) genes, is associated with high cancer incidence early in life.
Dilys D. Weijers, Snežana Hinić, Emma Kroeze, Mark AJ Gorris, Gerty Schreibelt, Sjors Middelkamp, Arjen R. Mensenkamp, Reno Bladergroen, Kiek Verrijp, Nicoline Hoogerbrugge, Pieter Wesseling, Rachel S. van der Post, Jan LC Loeffen, Corrie EM Gidding, Mariëtte CA van Kouwen, I. Jolanda M. de Vries, Ruben van Boxtel, Richarda M. de Voer, Marjolijn CJ Jongmans, Roland P. Kuiper   +19 more
doaj   +3 more sources

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics [PDF]

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +2 more sources

ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management [PDF]

Eur J Hum Genet
Constitutional mismatch repair deficiency (CMMRD), first described 25 years ago, confers an extremely high and lifelong cancer risk, including haematologic, brain, and gastrointestinal tract malignancies, and is associated with several non-neoplastic ...
Member of the European consortium Care for CMMRD (C4CMMRD), Colas, Chrystelle, Drouet, Youenn, Gallon, Richard, Jongmans, Marjolijn C.J., Wimmer, Katharina, Claret, Beatrice, Andreiuolo, Felipe, ERN GENTURIS CMMRD Guideline Group, Svrcek, Magali, Beccaria, Kevin, Member of the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Ayuso, Éloïse, Dangouloff-ros, Volodia, Brugières, Laurence, Burkhardt, Birgit, Guerrini-Rousseau, Léa, van Kouwen, Mariëtte, Suerink, Manon, Kratz, Christian P., Ruiz-Ponte, Clara, Azizi, Amedeo A.   +21 more
core   +3 more sources

Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines [PDF]

Diagnostic Pathology
DNA mismatch repair (MMR) is critical for maintaining genome integrity through correction of single-base mismatches and insertion-deletion loops arising from DNA replication.
Jennifer Vazzano Goldstone, Suzanna J. Logan, Benjamin J. Wilkins, Suzanne P. MacFarland, Miriam Conces, Daniel R. Boué, Christopher R. Pierson, Samir Kahwash, Kathleen M. Schieffer, Catherine E. Cottrell, Susan Colace, Kristin Zajo, Archana Shenoy   +12 more
doaj   +2 more sources

Presentation of Acute Lymphoblastic Lymphoma and Colorectal Carcinoma in the Context of Constitutional Mismatch Repair Deficiency Syndrome (CMMRD): a Case Report with Literature Review [PDF]

Journal of Cancer and Allied Specialties, 2021
Introduction: Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive disease-carrying an increased risk of cancers (pediatric tumors of central nervous system, haemato-lymphoid malignancies along with gastrointestinal (GI) cancer(
Muhammad Irfan Basheer, Iftikhar Ali Rana, Umer Nisar Sheikh, Muhammad Aasim Yusuf, Irfana Ishaq Sindhu, Asif Loya   +5 more
doaj   +2 more sources

Synchronous childhood T-lymphoblastic lymphoma and B-cell precursor acute lymphoblastic leukemia associated with constitutional MMR deficiency syndrome –a case report [PDF]

Frontiers in Oncology
We present a four-year-old girl with synchronous T-cell lymphoblastic lymphoma (T-LBL) and B-cell precursor acute lymphoblastic leukemia (BCP-ALL).Development of two lymphoid malignancies arising from completely different cell lineages was confirmed by ...
Joanna Bulsa, Agata Karolina Pastorczak, Joanna Taha, Wojciech Mlynarski, Łukasz Sędek, Tomasz Szczepanski   +5 more
doaj   +2 more sources

Pediatric Awake Craniotomy Within a Structured Perioperative Pathway: A Case Report of Anesthesiologic Management for Recurrent Astrocytoma in a 10-Year-Old Child [PDF]

Children
Background: Awake craniotomy is well established in adult neurosurgery for lesions near eloquent cortical areas, but its use in children remains uncommon and presents substantial anesthetic, psychological, and organizational challenges.
Francesco Smedile, Dario Cirillo, Alessandro Vittori, Mariangela Padua, Andrea Carai, Alessandra Savioli, Antonella Cacchione, Alessandro De Benedictis, Rosanna Pariante, Corrado Cecchetti   +9 more
doaj   +2 more sources

Molecular characterization of mismatch repair deficient tumors in young Jordanian patients [PDF]

Discover Oncology
Mismatch repair deficiency (MMRD) contributes substantially to early-onset colorectal carcinoma (CRC) and pediatric malignancies in Jordan. Approximately 19% of CRCs diagnosed in adults younger than 45 years exhibit MMRD by immunohistochemistry (IHC). In
Olfat Ahmad, Iyad Sultan, Maysa Hussaini, Osama Alsmadi, Christian Sutter, Steffen Hirsch, Robert J. Autry, Christopher Previti, Asta Försti, Benjamin Schwalm, Lama AbuJamous, Nisreen Amayiri, Mayada Abu Shanap, Rola Amareen, Salsabeel Aljawabrah, Lara Fryjat, Aya Al-Naimat, Areen Qaisi, Hala Alnaimat, David E. Reuss, Nicholas R. Fernandez, Anirban Das, Uri Tabori, Stefan M. Pfister, Christian P. Schaaf   +24 more
doaj   +2 more sources