Results 111 to 120 of about 79,064 (227)

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

Germline Cancer Predisposition and De Novo Contributions in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group

International Journal of Cancer, EarlyView.
ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie, Sarah Scollon, Yao Yu, Aniko Sabo, Tiffany Chambers, Olga Taylor, Logan G. Spector, Michael E. Scheurer, Douglas S. Hawkins, Rajkumar Venkatramani, Chad D. Huff, Sharon E. Plon, Philip J. Lupo   +12 more
wiley   +1 more source

ntRoot: Genetic Ancestry Inference Across Diverse Genomic Data Types. [PDF]

Curr Protoc
Coombe L, Aloraini T, Birol I, Warren RL.   +3 more
europepmc   +1 more source

High‐Grade B‐Cell Lymphoma With 11q Aberration in Africa: A Differential Diagnosis in Cases With Features of Endemic Burkitt Lymphoma

International Journal of Cancer, EarlyView.
ABSTRACT Fifty years ago, Zech et al. in this journal described for the first time the t(8;14) as a recurrent chromosomal aberration in Burkitt lymphoma (BL). Nevertheless, in regions where BL is not endemic, a subset of lymphomas with features of BL lacks the t(8;14)/IG::MYC and instead represents high‐grade B‐cell lymphoma with 11q aberration (HGBCL ...
Timothy Onyuma, Anja Fischer, Raffaella Guazzo, Mateus H. Gouveia, Noel Onyango, Cristiana Bellan, Susanne Bens, Roberto Boccacci, Michaela Feuring, Massimo Granai, Grace Kiraka, Alexandra G. Kouroukli, Stefano Lazzi, Cosimo Lori, Marianne Wanjiru Mureithi, Joshua Nyagol, Matthias Schlesner, Maria Chiara Siciliano, Margherita Vannucchi, Rabea Wagener, Nicholas Othieno‐Abinya, Sam M. Mbulaiteye, Lorenzo Leoncini, Reiner Siebert   +23 more
wiley   +1 more source

Integrative Analysis of Whole Exome Sequencing and Gene Expression to Uncover Genetic Mechanisms in Inflammatory Bowel Disease. [PDF]

Genes (Basel)
Banaganapalli B, Alharbi WF, Alzahrani WA, El-Harouni AA, Almutadares M, Nasser KK, Saadah OI, Mosli M, Arif RH, Alsufyani HA, Alyousfi D, Shaik NA.   +11 more
europepmc   +1 more source

MLH1 p.His112Arg Variant Is Associated With Increased Cancer Susceptibility

International Journal of Cancer, EarlyView.
ABSTRACT Lynch syndrome, a prevalent hereditary cancer predisposition, is frequently caused by pathogenic variants in the MutL homolog 1 (MLH1) mismatch repair gene. However, a significant proportion of MLH1 missense variants remain classified as variants of uncertain significance (VUS), creating clinical ambiguity.
Amal Elfatih, Issam Tout, Najwa Ahmad Doha, Tala Abu Arja, Idris Mohammed, Doua Abdelrhaman, Waseem Hasan, Chadi Saad, Hamdi Mbarek, Borbala Mifsud, Sahar Isa Da'as   +10 more
wiley   +1 more source

Decentralizing Clinical Tumor Exome Analysis: On-Premises GPU-Based Secondary Analysis in a Clinical Molecular Laboratory. [PDF]

Genes (Basel)
Ahluwalia P, Lord D, Arbery M, Pampatwar N, Mohan A, Vashisht A, Mondal AK, Kolhe R.   +7 more
europepmc   +1 more source

Prenatal screening and diagnostic strategies for fetal genetic abnormalities: Comparison of international clinical guidelines

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract This study compares recommendations from international clinical guidelines regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of non‐invasive prenatal testing (NIPT), invasive diagnostic procedures, and advanced genomic technologies.
Geovanna Saboia Veras, João Renato Bennini   +1 more
wiley   +1 more source

APOBEC Status Classification Using a Curated Gene Panel in Multiple Myeloma. [PDF]

Hematol Oncol
Vraxnos D, Vogazianos P, Brown C, Lionetti M, Entizne JC, Charalambous E, Antoniades A, Bolli N.   +7 more
europepmc   +1 more source