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== Research ==
== Research ==
=== Discovery of an Icelandic [[BRCA2]] [[Founder effect|founder mutation]] ===
=== Discovery of an Icelandic [[BRCA2]] [[Founder effect|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.<ref>[https://www.ncbi.nlm.nih.gov/pubmed/7658781 Linkage to BRCA2 region in hereditary male breast cancer]. Thorlacius S, Tryggvadottir L, Olafsdottir GH, Jonasson JG, Ogmundsdottir HM, Tulinius H, Eyfjord JE. Lancet. 1995 Aug 26;346(8974):544-5</ref> 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.<ref>[https://www.ncbi.nlm.nih.gov/pubmed/8673089 A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes]. Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, Tulinius H, Ogmundsdottir HM, Eyfjörd JE. Nat Genet. 1996 May;13(1):117-9.</ref><ref>[https://www.ncbi.nlm.nih.gov/pubmed/8589730 The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds]. Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Janecki T, Jiang P, Kehrer R, Leblanc JF, Mitchell JT, McArthur-Morrison J, Nguyen K, Peng Y, Samson C, Schroeder M, Snyder SC, Steele L, Stringfellow M, Stroup C, Swedlund B, Swense J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AK, Shizuya H, Eyfjord JE, Cannon-Albright L, Tranchant M, Labrie F, Skolnick MH, Weber B, Kamb A, Goldgar DE. Nat Genet. 1996 Mar;12(3):333-7.</ref> 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.<ref>[https://www.ncbi.nlm.nih.gov/pubmed/9150155 Study of a single BRCA2 mutation with high carrier frequency in a small population]. Thorlacius S, Sigurdsson S, Bjarnadottir H, Olafsdottir G, Jonasson JG, Tryggvadottir L, Tulinius H, Eyfjörd JE. Am J Hum Genet. 1997 May;60(5):1079-84.</ref> 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.<ref>[https://www.ncbi.nlm.nih.gov/pubmed/9383000https://www.ncbi.nlm.nih.gov/pubmed/9383000 BRCA2 mutation in Icelandic prostate cancer patients]. Sigurdsson S, Thorlacius S, Tomasson J, Tryggvadottir L, Benediktsdottir K, Eyfjörd JE, Jonsson E.J Mol Med (Berl). 1997 Oct;75(10):758-61.</ref> International studies confirmed this association of BRCA2 mutations with aggressive prostate cancer and this was followed up by the EU funded IMPACT study [https://www.researchgate.net/publication/256201758_IMPACT_Study_Targeted_prostate_cancer_screening 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<ref>[https://www.ncbi.nlm.nih.gov/pubmed/9802270 Population-based study of risk of breast cancer in carriers of BRCA2 mutation]. Thorlacius S, Struewing JP, Hartge P, Olafsdottir GH, Sigvaldason H, Tryggvadottir L, Wacholder S, Tulinius H, Eyfjörd JE. Lancet. 1998 Oct 24;352(9137):1337-9.</ref><ref>[https://www.ncbi.nlm.nih.gov/pubmed/16418514 Population-based study of changing breast cancer risk in Icelandic BRCA2 mutation carriers, 1920-2000]. Tryggvadottir L, Sigvaldason H, Olafsdottir GH, Jonasson JG, Jonsson T, Tulinius H, Eyfjörd JE.J Natl Cancer Inst. 2006 Jan 18;98(2):116-22.</ref><ref>[https://www.ncbi.nlm.nih.gov/pubmed/21958427 Genomic and phenotypic analysis of BRCA2 mutated breast cancers reveals co-occurring changes linked to progression]. Stefansson OA, Jonasson JG, Olafsdottir K, Bjarnason H, Th Johannsson O, Bodvarsdottir SK, Valgeirsdottir S, Eyfjord JE. Breast Cancer Res. 2011 Sep 29;13(5):R95. doi: 10.1186/bcr3020</ref> as well as studies on mutations and epigenetic inactivation of the BRCA1 gene in Icelandic cancer patients<ref>[https://www.ncbi.nlm.nih.gov/pubmed/16846527 Epigenetic silencing and deletion of the BRCA1 gene in sporadic breast cancer]. Birgisdottir V, Stefansson OA, Bodvarsdottir SK, Hilmarsdottir H, Jonasson JG, Eyfjord JE. Breast Cancer Res. 2006;8(4):R38.</ref><ref>[https://www.ncbi.nlm.nih.gov/pubmed/25468711 A DNA methylation-based definition of biologically distinct breast cancer subtypes]. Stefansson OA, Moran S, Gomez A, Sayols S, Arribas-Jorba C, Sandoval J, Hilmarsdottir H, Olafsdottir E, Tryggvadottir L, Jonasson JG, Eyfjord J, Esteller M.Mol Oncol. 2015 Mar;9(3):555-68. doi: 10.1016/j.molonc.2014.10.012. Epub 2014 Nov 5.</ref> in collaboration with the Icelandic Cancer Registry and researchers at the National University Hospital.
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.<ref>{{cite journal| pmid=7658781 | doi=10.1016/s0140-6736(95)91383-1 | volume=346 | title=Linkage to BRCA2 region in hereditary male breast cancer | year=1995 | journal=Lancet | pages=544–5 | last1 = Thorlacius | first1 = S | last2 = Tryggvadottir | first2 = L | last3 = Olafsdottir | first3 = GH | last4 = Jonasson | first4 = JG | last5 = Ogmundsdottir | first5 = HM | last6 = Tulinius | first6 = H | last7 = Eyfjord | first7 = JE}}</ref> 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.<ref>{{cite journal| pmid=8673089 | doi=10.1038/ng0596-117 | volume=13 | title=A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes | date=May 1996 | journal=Nat. Genet. | pages=117–9 | last1 = Thorlacius | first1 = S | last2 = Olafsdottir | first2 = G | last3 = Tryggvadottir | first3 = L | display-authors = etal}}</ref><ref>{{cite journal| pmid=8589730 | doi=10.1038/ng0396-333 | volume=12 | title=The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds | year=1996 | journal=Nat Genet | pages=333–7 | last1 = Tavtigian | first1 = SV | last2 = Simard | first2 = J | last3 = Rommens | first3 = J | last4 = Couch | first4 = F | last5 = Shattuck-Eidens | first5 = D | last6 = Neuhausen | first6 = S | last7 = Merajver | first7 = S | last8 = Thorlacius | first8 = S | last9 = Offit | first9 = K | last10 = Stoppa-Lyonnet | first10 = D | last11 = Belanger | first11 = C | last12 = Bell | first12 = R | last13 = Berry | first13 = S | last14 = Bogden | first14 = R | last15 = Chen | first15 = Q | last16 = Davis | first16 = T | last17 = Dumont | first17 = M | last18 = Frye | first18 = C | last19 = Hattier | first19 = T | last20 = Jammulapati | first20 = S | last21 = Janecki | first21 = T | last22 = Jiang | first22 = P | last23 = Kehrer | first23 = R | last24 = Leblanc | first24 = JF | last25 = Mitchell | first25 = JT | last26 = McArthur-Morrison | first26 = J | last27 = Nguyen | first27 = K | last28 = Peng | first28 = Y | last29 = Samson | first29 = C | last30 = Schroeder | first30 = M | last31 = Snyder | first31 = SC | last32 = Steele | first32 = L | last33 = Stringfellow | first33 = M | last34 = Stroup | first34 = C | last35 = Swedlund | first35 = B | last36 = Swense | first36 = J | last37 = Teng | first37 = D | last38 = Thomas | first38 = A | last39 = Tran | first39 = T | last40 = Tranchant | first40 = M | last41 = Weaver-Feldhaus | first41 = J | last42 = Wong | first42 = AK | last43 = Shizuya | first43 = H | last44 = Eyfjord | first44 = JE | last45 = Cannon-Albright | first45 = L | last46 = Tranchant | first46 = M | last47 = Labrie | first47 = F | last48 = Skolnick | first48 = MH | last49 = Weber | first49 = B | last50 = Kamb | first50 = A | last51 = Goldgar | first51 = DE}}</ref> 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.<ref>{{cite journal| pmid=9150155 | pmc=1712443 | volume=60 | title=Study of a single BRCA2 mutation with high carrier frequency in a small population | date=May 1997 | journal=Am. J. Hum. Genet. | pages=1079–84 | last1 = Thorlacius | first1 = S | last2 = Sigurdsson | first2 = S | last3 = Bjarnadottir | first3 = H | display-authors = etal}}</ref> 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.<ref>{{cite journal| pmid=9383000 | doi=10.1007/s001090050162 | volume=75 | title=BRCA2 mutation in Icelandic prostate cancer patients | year=1997 | journal=J Mol Med (Berl) | pages=758–61 | last1 = Sigurdsson | first1 = S | last2 = Thorlacius | first2 = S | last3 = Tomasson | first3 = J | last4 = Tryggvadottir | first4 = L | last5 = Benediktsdottir | first5 = K | last6 = Eyfjörd | first6 = JE | last7 = Jonsson | first7 = E}}</ref> International studies confirmed this association of BRCA2 mutations with aggressive prostate cancer and this was followed up by the EU funded IMPACT study [https://www.researchgate.net/publication/256201758_IMPACT_Study_Targeted_prostate_cancer_screening 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<ref>{{cite journal| pmid=9802270 | doi=10.1016/s0140-6736(98)03300-5 | volume=352 | title=Population-based study of risk of breast cancer in carriers of BRCA2 mutation | year=1998 | journal=Lancet | pages=1337–9 | last1 = Thorlacius | first1 = S | last2 = Struewing | first2 = JP | last3 = Hartge | first3 = P | last4 = Olafsdottir | first4 = GH | last5 = Sigvaldason | first5 = H | last6 = Tryggvadottir | first6 = L | last7 = Wacholder | first7 = S | last8 = Tulinius | first8 = H | last9 = Eyfjörd | first9 = JE}}</ref><ref>{{cite journal| pmid=16418514 | doi=10.1093/jnci/djj012 | volume=98 | title=Population-based study of changing breast cancer risk in Icelandic BRCA2 mutation carriers, 1920-2000 | year=2006 | journal=J Natl Cancer Inst | pages=116–22 | last1 = Tryggvadottir | first1 = L | last2 = Sigvaldason | first2 = H | last3 = Olafsdottir | first3 = GH | last4 = Jonasson | first4 = JG | last5 = Jonsson | first5 = T | last6 = Tulinius | first6 = H | last7 = Eyfjörd | first7 = JE}}</ref><ref>{{cite journal| pmid=21958427 | doi=10.1186/bcr3020 | pmc=3262207 | volume=13 | title=Genomic and phenotypic analysis of BRCA2 mutated breast cancers reveals co-occurring changes linked to progression | year=2011 | journal=Breast Cancer Res | page=R95 | last1 = Stefansson | first1 = OA | last2 = Jonasson | first2 = JG | last3 = Olafsdottir | first3 = K | last4 = Bjarnason | first4 = H | last5 = Th Johannsson | first5 = O | last6 = Bodvarsdottir | first6 = SK | last7 = Valgeirsdottir | first7 = S | last8 = Eyfjord | first8 = JE}}</ref> as well as studies on mutations and epigenetic inactivation of the BRCA1 gene in Icelandic cancer patients<ref>{{cite journal| pmid=16846527 | doi=10.1186/bcr1522 | pmc=1779478 | volume=8 | title=Epigenetic silencing and deletion of the BRCA1 gene in sporadic breast cancer | year=2006 | journal=Breast Cancer Res | page=R38 | last1 = Birgisdottir | first1 = V | last2 = Stefansson | first2 = OA | last3 = Bodvarsdottir | first3 = SK | last4 = Hilmarsdottir | first4 = H | last5 = Jonasson | first5 = JG | last6 = Eyfjord | first6 = JE}}</ref><ref>{{cite journal| pmid=25468711 | doi=10.1016/j.molonc.2014.10.012 | pmc=5528700 | volume=9 | title=A DNA methylation-based definition of biologically distinct breast cancer subtypes | year=2015 | journal=Mol Oncol | pages=555–68 | last1 = Stefansson | first1 = OA | last2 = Moran | first2 = S | last3 = Gomez | first3 = A | last4 = Sayols | first4 = S | last5 = Arribas-Jorba | first5 = C | last6 = Sandoval | first6 = J | last7 = Hilmarsdottir | first7 = H | last8 = Olafsdottir | first8 = E | last9 = Tryggvadottir | first9 = L | last10 = Jonasson | first10 = JG | last11 = Eyfjord | first11 = J | last12 = Esteller | first12 = M}}</ref> in collaboration with the Icelandic Cancer Registry and researchers at the National University Hospital.


=== Genomic instability in tumor cells ===
=== 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.<ref>[https://www.ncbi.nlm.nih.gov/pubmed/7530599 p53 abnormalities and genomic instability in primary human breast carcinomas]. Eyfjörd JE, Thorlacius S, Steinarsdottir M, Valgardsdottir R, Ogmundsdottir HM, Anamthawat-Jonsson K. Cancer Res. 1995 Feb 1;55(3):646-51.</ref> 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.<ref>[https://www.ncbi.nlm.nih.gov/pubmed/9500438 BRCA2 and p53 mutations in primary breast cancer in relation to genetic instability]. Gretarsdottir S, Thorlacius S, Valgardsdottir R, Gudlaugsdottir S, Sigurdsson S, Steinarsdottir M, Jonasson JG, Anamthawat-Jonsson K, Eyfjörd JE. Cancer Res. 1998 Mar 1;58(5):859-62.</ref> 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.<ref>[https://www.ncbi.nlm.nih.gov/pubmed/16002101 Genomic instability and cancer: networks involved in response to DNA damage]. Eyfjord JE, Bodvarsdottir SK. Mutat Res. 2005 Dec 30;592(1-2):18-28. Epub 2005 Jul 5. Review.</ref> 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.<ref>[https://www.ncbi.nlm.nih.gov/pubmed/22019625 Dysfunctional telomeres in human BRCA2 mutated breast tumors and cell lines]. Bodvarsdottir SK, Steinarsdottir M, Bjarnason H, Eyfjord JE. Mutat Res. 2012 Jan 3;729(1-2):90-9. doi: 10.1016/j.mrfmmm.2011.10.002. Epub 2011 Oct 12.</ref><ref>[https://www.ncbi.nlm.nih.gov/pubmed/28235830 Telomere Length Is Predictive of Breast Cancer Risk in BRCA2 Mutation Carriers]. Thorvaldsdottir B, Aradottir M, Stefansson OA, Bodvarsdottir SK, Eyfjörd JE.Cancer Epidemiol Biomarkers Prev. 2017 Aug;26(8):1248-1254. doi: 10.1158/1055-9965.EPI-16-0946. Epub 2017 Feb 24.</ref>
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.<ref>{{cite journal| pmid=7530599 | volume=55 | title=p53 abnormalities and genomic instability in primary human breast carcinomas | year=1995 | journal=Cancer Res | pages=646–51 | last1 = Eyfjörd | first1 = JE | last2 = Thorlacius | first2 = S | last3 = Steinarsdottir | first3 = M | last4 = Valgardsdottir | first4 = R | last5 = Ogmundsdottir | first5 = HM | last6 = Anamthawat-Jonsson | first6 = K}}</ref> 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.<ref>{{cite journal| pmid=9500438 | volume=58 | title=BRCA2 and p53 mutations in primary breast cancer in relation to genetic instability | year=1998 | journal=Cancer Res | pages=859–62 | last1 = Gretarsdottir | first1 = S | last2 = Thorlacius | first2 = S | last3 = Valgardsdottir | first3 = R | last4 = Gudlaugsdottir | first4 = S | last5 = Sigurdsson | first5 = S | last6 = Steinarsdottir | first6 = M | last7 = Jonasson | first7 = JG | last8 = Anamthawat-Jonsson | first8 = K | last9 = Eyfjörd | first9 = JE}}</ref> 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.<ref>{{cite journal| pmid=16002101 | doi=10.1016/j.mrfmmm.2005.05.010 | volume=592 | title=Genomic instability and cancer: networks involved in response to DNA damage | year=2005 | journal=Mutat Res | pages=18–28 | last1 = Eyfjord | first1 = JE | last2 = Bodvarsdottir | first2 = SK}}</ref> 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.<ref>{{cite journal| pmid=22019625 | doi=10.1016/j.mrfmmm.2011.10.002 | volume=729 | title=Dysfunctional telomeres in human BRCA2 mutated breast tumors and cell lines | year=2012 | journal=Mutat Res | pages=90–9 | last1 = Bodvarsdottir | first1 = SK | last2 = Steinarsdottir | first2 = M | last3 = Bjarnason | first3 = H | last4 = Eyfjord | first4 = JE}}</ref><ref>{{cite journal| pmid=28235830 | doi=10.1158/1055-9965.EPI-16-0946 | volume=26 | title=Telomere Length Is Predictive of Breast Cancer Risk in <i>BRCA2</i> Mutation Carriers | year=2017 | journal=Cancer Epidemiol Biomarkers Prev | pages=1248–1254 | last1 = Thorvaldsdottir | first1 = B | last2 = Aradottir | first2 = M | last3 = Stefansson | first3 = OA | last4 = Bodvarsdottir | first4 = SK | last5 = Eyfjörd | first5 = JE}}</ref>


=== International collaboration on cancer research ===
=== International collaboration on cancer research ===

Revision as of 19:44, 9 May 2020

This is an Icelandic name. The last name is a family name, but this person is referred to by the given name Jórunn Erla.
Jórunn Erla Eyfjörð
BornMay 25, 1946
Reykjavík
NationalityIcelandic
Occupation(s)molecular biologist and professor emeritus at the Faculty of Medicine of the University of Iceland

Jórunn Erla Eyfjörð (b. in Reykjavík 25 May 1946) is an Icelandic molecular biologist and professor emeritus at the Faculty of Medicine of the University of Iceland. She is known for her research on breast cancer genetics.[1][2]

Career

Jórunn Erla matriculated from the mathematics division of Reykjavik Junior College (Menntaskólinn í Reykjavik) in 1966. She did her undergraduate studies at the University of Iceland and University of Minnesota. She graduated with a BSc in biology from the University of Iceland in 1971. Along with her undergraduate studies she worked as an assistant to professor Gudmundur Eggertsson at his newly founded molecular genetics laboratory, at Keldur, Institute for Experimental Pathology. Jórunn continued her studies in molecular genetics at the MRC Cell Mutation Unit, University of Sussex, England, and completed her doctorate in 1976 on the topic of DNA repair, studying the processes by which a cell recovers from damage due to radiation.[3]

From 1977 Jórunn continued her research at the University of Iceland, while also lecturing on molecular genetics, human genetics and cell biology at the Faculty of Natural Sciences and the Faculty of Medicine of the University of Iceland. In 1988 she was appointed to a post in the newly founded Molecular and Cell Biology Research Laboratory of the Icelandic Cancer Society to launch a research program in genetics.[4]

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. Jórunn was appointed Associate Professor at the Faculty of Medicine, University of Iceland, in 1998 and Professor 2005. Along with her teaching and research duties she has contributed to the University of Iceland in other ways, such as by chairing the Science Committee of the Faculty of Medicine (2002-2008), sitting on the Assessment Committee for Academic Qualifications (2002-2011, as chair 2008-2011) and Steering Board member of the Faculty of Medicine (2013-2016). She has supervised many students in master's and doctoral studies. She also contributed to Icelandic and foreign professional councils, such as the Icelandic Centre for Research, the Swedish Research Council, Vetenskabsradet, the Finnish Academy of Science and SciLifeLab in Sweden.[3]

Research

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 (b. 1948). Their children are Edda Magnus (b. 1976), project manager,[32] and Friðrik Magnus (b. 1980), physicist and professor at University of Iceland.[33]

References

  1. ^ Google Scholar. Jorunn E Eyfjord.
  2. ^ PubMed. Eyfjord, J.
  3. ^ a b c "Jórunn Erla Eyfjörð. Prófessor emeritus. Ferilskrá [Curriculum vitae]".
  4. ^ Morgunblaðið. (1995, April 2). Galli í erfðaefni krabbameinsvaldur (pp. 24-25). Retrieved February 29, 2020.
  5. ^ Thorlacius, S; Tryggvadottir, L; Olafsdottir, GH; Jonasson, JG; Ogmundsdottir, HM; Tulinius, H; Eyfjord, JE (1995). "Linkage to BRCA2 region in hereditary male breast cancer". Lancet. 346: 544–5. doi:10.1016/s0140-6736(95)91383-1. PMID 7658781.
  6. ^ Thorlacius, S; Olafsdottir, G; Tryggvadottir, L; et al. (May 1996). "A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes". Nat. Genet. 13: 117–9. doi:10.1038/ng0596-117. PMID 8673089.
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