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.
Billaud A, Figlioli G, Mooser C, Casamassima I, Azzoni V, Srivatsa J, Colombo M, Caleca L, Ahearn TU, Andrulis IL, Antoniou AC, Beckmann MW, Behrens S, Bermisheva M, Bogdanova NV, Bolla MK, Bonanni B, Brüning T, Camp NJ, Campbell A, Castelao JE, Cessna MH, Chang-Claude J, NBCS Collaborators, Czene Ket al.(2025) Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer Breast, 85, 104619(in press) DOI 10.1016/j.breast.2025.104619, PubMed 41223770
Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna Met al.(2025) Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus Nat Commun, 16(1), 8237 DOI 10.1038/s41467-025-63507-x, PubMed 40925936
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