The aim of this project is to re-evaluate the role of genetic polymorphisms (SNPs) with respect to the existence of higher order of their organization the haplotypes. Haplotypes may affect expression and protein structure of single genes and gene products, but may also affect whole metabolic pathways by co-inheritance of susceptibility alleles in different genes.
Figure: Chromosomal localization (B) of the selected SNPs for haplotype analysis in the SNP500 database and haplotype frequencies and structures in 4 different SNP 500 populations (A). Linkage disequilibrium between the same SNPs selected for analysis in the SNP500 in 200 breast cancer patients from Norwegian population.
Røssevold AH, Tekpli X, Lingjærde OC, Russnes HG, Vallon-Christersson J, Borgen E, Lømo J, Garred Ø, Dorraji E, Kristensen VN, Naume B, Kyte JA(2025) High tumor expression of CTLA4 identifies lymph node-negative basal-like breast cancer patients with excellent prognosis Commun Med (Lond), 5(1), 234 DOI 10.1038/s43856-025-00865-z, PubMed 40523912
Zanti M, O'Mahony DG, Parsons MT, Dorling L, Dennis J, Boddicker NJ, Chen W, Hu C, Naven M, Yiangou K, Ahearn TU, Ambrosone CB, Andrulis IL, Antoniou AC, Auer PL, Baynes C, Bodelon C, Bogdanova NV, Bojesen SE, Bolla MK, Brantley KD, Camp NJ, Campbell A, Castelao JE, Cessna MHet al.(2025) Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification Nat Commun, 16(1), 4852 DOI 10.1038/s41467-025-59979-6, PubMed 40413188
Campos-Segura AV, Alvarez K, Murillo Carrasco AG, Rossi BM, Bohorquez M, Spirandelli F, Benavides C, Balto A, Della Valle A, Bruno LI, Lopez-Kostner F, Cruz-Correa M, Del Monte JS, Rugeles J, Ramirez JM, Nascimento I, Forones NM, Cock-Rada AM, Reyes-Silva C, Avila S, Apolinario L, Rossi NT, Martin C, Sulcahuaman Y, Vaccaro CAet al.(2025) Characterization of Screening Strategies for Lynch Syndrome in Latin America Clin Gastroenterol Hepatol(in press) DOI 10.1016/j.cgh.2024.12.026, PubMed 40010418
