{"id":6000,"date":"2026-10-19T09:48:21","date_gmt":"2026-10-19T09:48:21","guid":{"rendered":"https:\/\/phd.hi.is\/doktorsvorn\/doktorsvorn-i-laeknavisindum-sigurdis-haraldsdottir\/"},"modified":"2026-10-19T09:48:21","modified_gmt":"2026-10-19T09:48:21","slug":"doktorsvorn-i-laeknavisindum-sigurdis-haraldsdottir","status":"publish","type":"phd_defence","link":"https:\/\/phd.hi.is\/en\/doktorsvorn\/doktorsvorn-i-laeknavisindum-sigurdis-haraldsdottir\/","title":{"rendered":"Doktorsv\u00f6rn \u00ed l\u00e6knav\u00edsindum – Sigurd\u00eds Haraldsd\u00f3ttir"},"content":{"rendered":"
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Sigurd\u00eds Haraldsd\u00f3ttir<\/strong> ver doktorsritger\u00f0 s\u00edna \u00ed l\u00e6knav\u00edsindum mi\u00f0vikudaginn 8. febr\u00faar n\u00e6stkomandi. Ritger\u00f0in ber heiti\u00f0: Algengi Lynch-heilkennis og n\u00fdgengi og orsakir misp\u00f6runar \u00ed sj\u00faklingum me\u00f0 ristil- og enda\u00fearmskrabbamein \u00e1 \u00cdslandi. The prevalence of Lynch syndrome and the incidence and etiology of mismatch repair deficiency in colorectal cancer patients in Iceland.<\/strong><\/em><\/p>\n

Andm\u00e6lendur eru dr. Noralane Lindor, pr\u00f3fessor \u00ed kl\u00edn\u00edskri erf\u00f0afr\u00e6\u00f0i vi\u00f0 Mayo Clinic, Bandar\u00edkjunum, og dr. Sigur\u00f0ur Ingvarsson, pr\u00f3fessor vi\u00f0 L\u00e6knadeild H\u00e1sk\u00f3la \u00cdslands.<\/p>\n

Umsj\u00f3narkennari var J\u00f3n Gunnlaugur J\u00f3nasson, pr\u00f3fessor vi\u00f0 L\u00e6knadeild H\u00e1sk\u00f3la \u00cdslands, og lei\u00f0beinandi var dr. Richard M. Goldberg, pr\u00f3fessor vi\u00f0 West-Virginia University, Bandar\u00edkjunum. Auk \u00feeirra s\u00e1tu \u00ed doktorsnefnd Heather Hampel, pr\u00f3fessor vi\u00f0 Ohio State University,\u00a0 dr. Wendy L. Frankel, pr\u00f3fessor vi\u00f0 sama sk\u00f3la, og dr. Reynir Arngr\u00edmsson, pr\u00f3fessor vi\u00f0 L\u00e6knadeild H\u00e1sk\u00f3la \u00cdslands.<\/p>\n

Engilbert Sigur\u00f0sson, deildarforseti og pr\u00f3fessor vi\u00f0 L\u00e6knadeild H\u00e1sk\u00f3la \u00cdslands, stj\u00f3rnar ath\u00f6fninni sem fer fram \u00ed H\u00e1t\u00ed\u00f0asal H\u00e1sk\u00f3la \u00cdslands og hefst kl. 9.00.<\/p>\n

\n\u00c1grip af ranns\u00f3kn<\/strong>
\nLynch-heilkenni er arfgengt heilkenni sem eykur t\u00ed\u00f0ni krabbameina. Einstaklingur me\u00f0 heilkenni\u00f0 f\u00e6\u00f0ist me\u00f0 st\u00f6kkbreytingu \u00ed misp\u00f6runarvi\u00f0ger\u00f0argeni (MMR gen – MLH1, MSH2, MSH6 e\u00f0a PMS2). Auk Lynch-heilkennis geta utangenabreytingar \u00e1 MLH1 geninu me\u00f0 meth\u00fdleringu valdi\u00f0 \u00e6xli me\u00f0 \u00f3virkjun \u00e1 misp\u00f6runarvi\u00f0ger\u00f0arkerfi. T\u00ed\u00f0ni Lynch-heilkennis \u00e1 \u00cdslandi er \u00f3\u00feekkt.<\/p>\n

Markmi\u00f0 ranns\u00f3knar var a\u00f0 kanna t\u00ed\u00f0ni Lynch-heilkennis \u00e1 \u00cdslandi og \u00e1st\u00e6\u00f0ur MMR-\u00f3virkjunar \u00ed ristil- og enda\u00fearmskrabbameinum hj\u00e1 \u00f6llum sj\u00faklingum greindum \u00e1rin 2000-2009. Notast var vi\u00f0 gagnagrunn \u00cdslenskrar erf\u00f0agreiningar til a\u00f0 sko\u00f0a allar breytingar \u00ed MMR-genum sem fundist hafa hj\u00e1 \u00edslensku \u00fej\u00f3\u00f0inni og tengsl \u00feeirra vi\u00f0 aukna t\u00ed\u00f0ni krabbameina. M\u00f3tefnalitanir \u00e1 \u00e6xlisvef fyrir MMR-pr\u00f3teinum (MLH1, MSH2, MSH6, PMS2) voru nota\u00f0ar til a\u00f0 skima fyrir MMR-\u00f3virkjun og MMR-gena-ra\u00f0greining framkv\u00e6md til a\u00f0 kanna k\u00edml\u00ednu- og l\u00edkamsfrumust\u00f6kkbreytingar.<\/p>\n

\u00c6xlisvefur fr\u00e1 1182 sj\u00faklingum var lita\u00f0ur og MMR-\u00f3virkjun fannst \u00ed 132 tilfellum (11,2%); MLH1-meth\u00fdlering fannst \u00ed 90 tilfellum (7,6%), Lynch-heilkenni \u00ed 27 tilfellum (2,3%) og l\u00edkamsfrumust\u00f6kkbreytingar \u00ed MMR-genum \u00ed 16 tilfellum (1,4%). \u00derj\u00e1r landnemast\u00f6kkbreytingar \u00ed MSH6 og PMS2 fundust hj\u00e1 \u00edslensku \u00fej\u00f3\u00f0inni me\u00f0 samanlag\u00f0a arfberat\u00ed\u00f0ni 0.442%. Landnemast\u00f6kkbreytingarnar \u00ferj\u00e1r juku \u00e1h\u00e6ttuhlutfall \u00e1 krabbameini \u00ed legbol, ristli og enda\u00fearmi, heila og eggjastokkum.<\/p>\n

Algengi Lynch-heilkennis hj\u00e1 \u00edslensku \u00fej\u00f3\u00f0inni er 0,442% e\u00f0a 1 af 226 sem er h\u00e6sta algengi sem hefur veri\u00f0 l\u00fdst. \u00c1\u00e6tla m\u00e1 a\u00f0 yfir 1000 einstaklingar beri Lynch-heilkenni \u00e1 \u00cdslandi. Me\u00f0 \u00fev\u00ed a\u00f0 bj\u00f3\u00f0a arfberum skimun g\u00e6ti veri\u00f0 unnt a\u00f0 koma \u00ed veg fyrir krabbamein og bjarga mannsl\u00edfum.
\n\u00a0
\nUm doktorsefni\u00f0<\/strong>
\nSigurd\u00eds Haraldsd\u00f3ttir er f\u00e6dd \u00ed Reykjav\u00edk \u00e1ri\u00f0 1979. H\u00fan lauk st\u00fadentspr\u00f3fi af n\u00e1tt\u00farufr\u00e6\u00f0ibraut Menntask\u00f3lans vi\u00f0 Hamrahl\u00ed\u00f0 \u00e1ri\u00f0 1998 og kand\u00eddatspr\u00f3fi \u00ed l\u00e6knisfr\u00e6\u00f0i fr\u00e1 H\u00e1sk\u00f3la \u00cdslands \u00e1ri\u00f0 2004. H\u00fan hlaut meistaragr\u00e1\u00f0u \u00ed heilbrig\u00f0isv\u00edsindum fr\u00e1 H\u00e1sk\u00f3la \u00cdslands \u00e1ri\u00f0 2008. Sigurd\u00eds stunda\u00f0i s\u00e9rn\u00e1m \u00ed lyfl\u00e6knisfr\u00e6\u00f0i vi\u00f0 Boston University 2008-2011, s\u00e9rn\u00e1m \u00ed krabbameinsl\u00e6kningum vi\u00f0 Ohio State University 2011-2015 og hefur gegnt st\u00f6\u00f0u lektors og krabbameinsl\u00e6knis vi\u00f0 Stanford University \u00ed Bandar\u00edkjunum fr\u00e1 \u00e1rinu 2015. H\u00fan h\u00f3f doktorsn\u00e1m vi\u00f0 H\u00e1sk\u00f3la \u00cdslands \u00e1ri\u00f0 2013. Foreldrar Sigurd\u00edsar eru Haraldur Hermannsson smi\u00f0ur og Sigr\u00ed\u00f0ur J\u00f3hannsd\u00f3ttir lei\u00f0beinandi. Maki Sigurd\u00edsar er Roza Sarvarova, hj\u00fakrunarfr\u00e6\u00f0ingur.<\/p>\n<\/div><\/div>","protected":false},"featured_media":1213,"template":"","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"_phd_date_start":"","_phd_date_end":"","_phd_location":"A\u00f0albygging","_phd_admission":"A\u00f0gangur \u00f3keypis","_phd_thesis_title":"Algengi Lynch-heilkennis og n\u00fdgengi og orsakir misp\u00f6runar \u00ed sj\u00faklingum me\u00f0 ristil- og enda\u00fearmskrabbamein \u00e1 \u00cdslandi. 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