Search for genetic and non-genetic risk factors in European populations

We are aiming at identifying genetic and non-genetic factors that are associated with overall and subtype-specific breast cancer risk in the general population. Also, we look for genetic modifiers of breast and ovarian cancer risks in women, who are already at high risk of developing these diseases as they carry a deleterious germline mutation in the BRCA1 and BRCA2 genes. Many studies are performed in collaboration with national and international breast cancer consortia (GENICA, CIMBA, BCAC, TNBCC, COGS, OncoArray). Given that the risks transferred by single variants are small, we assess their combined effects on risk stratification. Altogether, our findings provide further insight into the mechanisms involved in breast carcinogenesis. The identified common variants are useful for the distinction of women at high and low risk of breast cancer and hence improve targeted early detection and prevention, prognosis, treatment and prediction of treatment outcome.

Genetic risk factors, genetic ancestry and their combined effects on breast cancer risk in Colombian women

Given that Colombians are an admixed population with ancestry from Native Americans, Europeans, and Africans, another research line addresses the identification of (i) associations of genetic ancestry with breast cancer risk, (ii) associations between previously reported risk variants and breast cancer, and (iii) interactions between ancestry and risk variants in breast cancer patients from the general population and in BRCA1/2 mutation carriers. Genetic ancestry may be useful when assessing breast cancer risk in admixed women from Colombia.

Search for novel breast cancer susceptibility genes in familial breast cancer patients from Colombia and Pakistan by next generation sequencing

Recently, studies on the identification of novel breast cancer susceptibility genes have become an additional focus. We aim at identifying through a next-generation sequencing approach the underlying familial predisposition to breast cancer in multiple multigenerational breast cancer families from Pakistan and Colombia, in whom no BRCA1 or BRCA2 mutation was identified. The discovery of novel breast cancer susceptibility genes and their characterization may reveal new etiological pathways that may lead to a clearer understanding of breast carcinogenesis and provide potential new targets for therapeutic research.

Assessment of DNA methylation profiles in peripheral blood as predictive and prognostic factors of breast cancer subtypes

Another line of works aims at finding methylation variations associated with different subtypes of breast cancer, cancer risk, and prognosis. Two large, genome-wide methylation studies on peripheral blood of breast cancer patients are currently conducted. One aims at determining the utility of DNA methylation in peripheral blood as predictor of BRCA1-associated, non-BRCA1/2-associated familial breast cancer, and sporadic breast cancer and as prognostic factors. Study subjects are Colombian women comprising breast cancer cases harbouring a pathogenic BRCA1 germline mutation, cases with a family history of breast/ovarian cancer and negative for the Colombian BRCA1/2 founder mutations, sporadic cases, and healthy controls. The other study aims at examining the utility of DNA methylation variations as a biomarker for triple-negative breast cancer for a non-invasive prediction of this aggressive breast cancer subtype and prognosis of its outcome. Beside the variations occurring in blood, we also study changes in the tumour itself in comparison. The identification of novel loci with differential methylation in blood of breast cancer patients will improve the prediction of breast cancer risk and prognosis. It may lead to a clearer understanding of pathogenesis of BRCA1-associated, non-BRCA1/2-associated familial, sporadic, and triple-negative breast cancer.

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