Jórunn Erla Eyfjörð

Jórunn Erla Eyfjörð (born in Reykjavík on 25 May 1946) is an Icelandic

In 2007, the laboratory was moved to the Faculty of Medicine and renamed the Cancer Research Laboratory. The laboratory then became part of the University of Iceland's fast-growing University of Iceland BioMedical Center Archived 2019-07-24 at the

Discovery of an Icelandic BRCA2 founder mutation

Jórunn participated actively in the Breast Cancer Linkage Consortium, an international effort to find breast cancer risk genes. She benefited from important data contained in the Icelandic Cancer Registry, run by the Icelandic Cancer Society, and no less from the participation of cancer patients and their relatives. Linkage analysis on a family with several cases of male breast cancer showed linkage to the then recently discovered BRCA2 gene, on chromosome 13 (the first such gene BRCA1 had been known since 1990). Jórunn published these results on male breast cancer in the medical journal Lancet 1995.^[5] Her team participated in further definition of the BRCA2 gene on chromosome 13, and found an Icelandic mutation, BRCA2 999del5, in a male breast cancer case at the end of 1995.^[6][7] This mutation proved to be common among Icelandic breast cancer patients of both sexes and was also linked to an increased risk of prostate cancer.^[8] Although risk of prostate cancer is much lower than risk of female breast cancer among carriers of this founder mutation, it was shown to be strongly associated with poor prognosis.^[9] International studies confirmed this association of BRCA2 mutations with aggressive prostate cancer and this was followed up by the EU funded IMPACT study Targeted prostate cancer screening that has led to a number of publications regarding prostate cancer in BRCA1 and BRCA2 mutation carriers. Extensive studies on the population impact and clinical relevance of this BRCA2 founder mutation followed^[10][11][12] as well as studies on mutations and epigenetic inactivation of the BRCA1 gene in Icelandic cancer patients^[13][14] in collaboration with the Icelandic Cancer Registry and researchers at the National University Hospital.

Genomic instability in tumor cells

Along with studies on cancer genetics Jórunn studied chromosomal instability in breast tumor tissue using Fluorescence In Situ Hybridization (FISH) and chromosome painting. Chromosomal instability in breast tumors was shown to be associated with mutations in the tumor suppressor gene TP53.^[15] After the discovery of the Icelandic BRCA2 founder mutation Jórunn and her team demonstrated that complex chromosomal changes and end-to-end chromosome fusions were common in breast tumors from BRCA2 mutation carriers.^[16] These findings showed that cells lacking functional BRCA2 protein are prone to DNA damage and suggest that BRCA2 has a role in double strand break repair.^[17] This also suggested that the telomere sequences at the ends of chromosomes were more sensitive to BRCA2 related repair deficiencies than the rest of the genome.^[18][19]

International collaboration on cancer research

Jórunn's research group participated in The International Cancer Genome Consortium (ICGC), that defined mutation patterns that characterize 20 of the commonest human cancers. This was published in Nature 2013.^[20] Following this publication, more detailed research into breast cancer was published in Nature 2016^[21] and also a detailed definition of subgroups of breast cancer with respect to newer treatments í Nature Medicine 2017.^[22] This research was the subject of a conference held in Jórunn's honor in May 2016^[23] and also in a news item on UI's website.^[24]

Contribution to bioethics

Jórunn has contributed to the discussion surrounding the difficult ethical questions arising from rapid progress in genetics. She was a member of the Nordic Committee on Bioethics 1989–99, and chaired this committee 1994–99. She was also a member of the Ethical, Legal and Social Aspects Working Group (ELSA), a committee for life sciences ethics under EU auspices.^[3]

Science outreach

Jórunn has been very active in presenting her research to the general public. For example, in October 2014 she gave the first talk in a lecture series “Science in Plain Language”,^[25] sponsored by the University of Iceland. She has also held lectures and worked with Let's Walk Together,^[26] a support association that raises funds for breast cancer research. Jórunn has been very active in presenting her research to the general public.

Awards

• Order of the Falcon 1996 (awarded by President Vigdís Finnbogadóttir).^[27]
• The Medical Faculty prize in recognition of her research 1995.^[28]
• The VÍS culture prize in recognition of research into cancer 1996.^[28]
• The Ása Wright prize in recognition of research in cancer genetics 2005.^[29]
• The University of Iceland prize for contributions to science 2007.^[30]
• The Icelandic Biological Society honorary prize for a successful scientific career 2019.^[31]

Personal life

Jórunn's parents were Friða Stefánsdóttir Eyfjörð, sports teacher, (1915-1998) and Friðrik J. Eyfjörð, retail merchant, (1912-2003). She is married to Robert J. Magnus, mathematician and professor emeritus at the University of Iceland. They have two children.^{[citation needed]}

References