Results 71 to 80 of about 621,836 (296)

Translating whole‐genome doubling into precision medicine in cancer

Molecular Oncology, EarlyView.
Whole‐genome doubling creates a WGD‐positive tumor state characterized by persistent chromosomal instability, karyotypic diversification, and cellular stress. These same biological pressures drive aggressive tumor evolution while exposing therapeutic vulnerabilities, providing a rationale for WGD‐informed precision medicine. Whole‐genome doubling (WGD)
Sejung Lee, Junghyeok Lim, Jinhyuk Bhin
wiley   +1 more source

Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility.

, 2007
Rare inactivating mutations in BRCA1, BRCA2, ATM, TP53 and CHEK2 confer relative risks for breast cancer between about 2 and more than 10, but more common variants in these genes are generally considered of little or no clinical significance.
dos Santos Silva, Isabel, Gibson, Lorna, Webb, Emily, Gabrielle Sellick, Lorna Gibson, Houlston, Richard, Nichola Johnson, Peto, Julian, Johnson, Nichola, Fletcher, Olivia, Claire Palles, Sean V. Tavtigian, Agnes Fraser, Rudd, Matthew, Ashworth, Alan, Isabel Dos Santos Silva, Palles, Claire, McCormack, Valerie, Tavtigian, Sean V, Leonard, Angela, Alan Ashworth, Valerie Mccormack, Gilham, Clare, Emily Webb, Richard Houlston, Sellick, Gabrielle, Olivia Fletcher, Matthew Rudd, Angela Leonard, Clare Gilham, Fraser, Agnes, Julian Peto   +31 more
core   +1 more source

Investigation of Japanese-specific alleles: Most are of Jomon lineage

, 2015
Japanese-specific alleles are expected to be powerful markers for the differentiation of the Japanese from other people. In this study, three single nucleotide polymorphisms (SNPs) in the GALNT11, H19, and PLA2G12A genes were analyzed in 2396 DNA samples
Yuasa, Isao, Akane, Atsushi, Jin, Feng, Fujihara, Junko, Ishikawa, Takaki, Matsusue, Aya, Umetsu, Kazuo, Adachi, Noboru, Nakayashiki, Nori, Harihara, Shinji   +9 more
core   +1 more source

Single‐cell DNA methylation profiling: Technologies, computation, and applications in precision oncology

Molecular Oncology, EarlyView.
Single‐cell DNA methylation (scDNAme) profiling maps epimutational clonal evolution, revealing mechanisms of malignancy and therapeutic resistance across diverse cancer types. By providing a high‐resolution landscape of intratumoral heterogeneity, these technologies empower precise patient stratification, guide the development of enhanced ...
Ik Soo Kim
wiley   +1 more source

GENOTYPES AND PHENOTYPES OF ALZHEIMER’S DISEASE

Наука и инновации в медицине, 2018
Aim - research of gene APOE for definition of allele structures of the human population phenotypes resulting in risk of Alzheimer’s disease. Materials and methods. Use of the Hardy-Weinberg theory and statistical researches of the alleles distribution of
AN N Volobuev, VF F Pyatin, NP P Romanchuk, NN N Aleksandrova   +3 more
doaj   +1 more source

Targeting transcription factors associated with hemoglobinopathies: Lessons from successful interventions and implications for cancer

Molecular Oncology, EarlyView.
This review summarizes the transcription factors, repressive chromatin‐modifying complexes, and epigenetic mechanisms that control fetal hemoglobin repression. Notably, many regulators of γ‐globin silencing also function in transcriptional and epigenetic networks that drive cancer, highlighting opportunities to translate advances in hemoglobinopathy ...
Meigen Yu, Puspa Das, Xing Zhang, Xiaodong Cheng   +3 more
wiley   +1 more source

Do MDM2 SNP309 and TP53 R72P interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium.

, 2007
Association studies in large series of breast cancer patients can be used to identify single-nucleotide polymorphisms (SNP) contributing to breast cancer susceptibility.
Pharoah, Paul DP, Hogervorst, Frans BL, Dunning, Alison M, Nevanlinna, Heli A, Blomqvist, Carl,, Tommiska, Johanna, Healey, Catherine S, Pharoah, Paul D P, Tollenaar, Rob A E M, Reincke, Scarlett, Peto, Julian, Blomqvist, Carl, Van't Veer, Laura J, Johnson, Nichola, Fletcher, Olivia, Tollenaar, Rob AEM, Broeks, Annegien, Schmidt, Marjanka K, Braaf, Linde M, Hogervorst, Frans B L, Breast Cancer Association Consortium, Easton, Douglas F, Dörk, Thilo   +22 more
core   +1 more source

The evolution of pyrimethamine resistant dhfr in Plasmodium falciparum of south-eastern Tanzania: comparing selection under SP alone vs SP+artesunate combination. [PDF]

, 2011
BACKGROUND\ud \ud Sulphadoxine-pyrimethamine (SP) resistance is now widespread throughout east and southern Africa and artemisinin compounds in combination with synthetic drugs (ACT) are recommended as replacement treatments by the World Health ...
Salim Abdullah, Mutayoba, Ben M, Bloland, Peter, Roper Cally, Malisa, Allen L, Roper, Cally, Allen L Malisa, Abdullah Salim, Cally Roper, Patrick S Kachur, Peter Bloland, Pearce Richard J, Hassan Mshinda, Bloland Peter, Kachur, Patrick S, Mshinda Hassan, Kachur Patrick S, Ben M Mutayoba, Malisa Allen L, Richard J Pearce, Abdullah, Salim, Pearce, Richard J, Mshinda, Hassan, Mutayoba Ben M   +23 more
core   +1 more source

alleles

, 2020
Seven novel HLA-C alleles were detected using two next-generation sequencing ...
Dard, Céline, Béatrice Bardy, Céline Dard, Stéphane Buhler, Ornella Senoussi, Dominique Masson, Buhler, Stéphane, Bardy, Béatrice, Senoussi, Ornella, Masson, Dominique   +9 more
core   +2 more sources

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +1 more source