Oncology and Pathology

Faculty of Medicine | Lund University


Breast & Ovarian Cancer Genomics

Breast cancer is the most common malignancy affecting women in the Western world, while ovarian cancer is a relatively rare cancer form. Ovarian cancer is however the most aggressive gynaecological malignancy and accounts for a disproportionally large fraction of cancer related deaths among women. There is hence a great need for cost effective screening options, as well as for novel prognostic and treatment predictive biomarkers. Our goal is to gain insight into the molecular events underlying each step in the evolution of breast and ovarian cancer, thereby improving the outcome for women diagnosed with these malignancies.

Women with inherited mutations in BRCA1/2 are at significantly increased risk of developing breast and/or serous ovarian cancer. Intensified screening for early detection of breast cancer is available, but not for ovarian cancer. The only available intervention strategy to date is prophylactic, or risk-reducing surgery. We are attempting to gain insight into the initiating events underlying malignant transformation and tumour evolution in genetically predisposed women. In addition to improving our understanding of genetic susceptibility to breast and/or ovarian cancer harboured in the BRCA1/2 context, this setting provides a unique model system for exploring early events in tumorigenesis in general, and may be extrapolated to breast and ovarian cancer development in general. Also, utilizing the vast knowledge gained from breast cancer research, we aim to gain a comprehensive understanding of the genomic landscape of ovarian cancer, and to translate these findings to the clinical setting.

Breast and ovarian cancers are genetically complex and heterogeneous; some breast cancer patients may be cured by surgery alone while others may develop metastases despite aggressive treatment. It is known that the site of metastasis affects survival, but little is known about the molecular and environmental factors conferring metastatic dissemination and organ specific tropism. We are exploring the functional underpinnings of genes differentially expressed across metastatic specimens from breast cancer patients, with the specific objective of identifying potential site-specific metastasis genes. Increased knowledge of drivers of metastasis may provide prognostic information and allow for the development of novel treatment strategies to successfully target metastatic propensity.

Knowledge of male breast cancer is limited and despite its infrequent prevalence causes significant morbidity/mortality in affected men. Over the past few years our group has contributed significantly to the knowledge of male breast cancer on the genomic, transcriptional and phenotypic levels. In the era of personalized medicine, improved understanding of the disease is required to enable management tailored towards both patient and tumour characteristics. We are classifying these cancers into comprehensive subgroups and aim to identify prognostic and treatment predictive markers that may be translated into clinical practice. We are also participating in an international study on male breast cancer coordinated by the EORTC. Building on the vast knowledge of breast cancer in women that has been accrued over recent years and the multitude of novel targeted treatments being developed, taken together these findings should be possible to translate into clinical benefit also for men diagnosed with breast cancer.



Ingrid Hedenfalk, Ph.D.
Associate Professor

E-mail: Ingrid.Hedenfalk@med.lu.se
Phone: +46-46-2220652
Fax: +46-46-147327


  • The Swedish Cancer Society
  • Governmental Funding of Clinical Research within National Health Service
  • The G Nilsson Cancer Foundation
  • The Mrs B Kamprad Foundation
  • The Lund University Hospital Research Foundation
  • The King Gustaf V Jubilee Fund
  • The Gyllenstiernska Krapperup Foundation
  • The Percy Falk Foundation
  • The Cancer and Allergy Research Foundation

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