[HTML][HTML] A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine

MF Hansen, J Johansen, I Bjørnevoll, AE Sylvander… - Familial cancer, 2015 - Springer
In some families there is an increased risk for colorectal cancer, caused by heritable, but
often unidentified genetic mutations predisposing to the disease. We have identified the …

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

W Sjursen, BI Haukanes, EM Grindedal… - Journal of medical …, 2010 - jmg.bmj.com
Background Reported prevalence, penetrance and expression of deleterious mutations in
the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences …

Use of multigene‐panel identifies pathogenic variants in several CRC‐predisposing genes in patients previously tested for Lynch Syndrome

MF Hansen, J Johansen, AE Sylvander… - Clinical …, 2017 - Wiley Online Library
Background Many families with a high burden of colorectal cancer fulfil the clinical criteria for
Lynch Syndrome. However, in about half of these families, no germline mutation in the …

[HTML][HTML] Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

IP Vogelaar, RS Van Der Post… - European Journal of …, 2017 - nature.com
Recognition of individuals with a genetic predisposition to gastric cancer (GC) enables
preventive measures. However, the underlying cause of genetic susceptibility to gastric …

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility

RDA Weren, RS Van Der Post, IP Vogelaar… - Journal of medical …, 2018 - jmg.bmj.com
Background In approximately 10% of all gastric cancer (GC) cases, a heritable cause is
suspected. A subset of these cases have a causative germline CDH1 mutation; however, in …

[HTML][HTML] Development of a registration system for genetic counsellors and nurses in health-care services in Europe

M Paneque, R Moldovan, C Cordier… - European Journal of …, 2016 - nature.com
The first genetic counsellors were employed in Europe in the 1980s, and since then the
professionalisation of the role has developed rapidly. 1 Here we summarise the work to …

A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts

W Sjursen, I Bjørnevoll, LF Engebretsen, K Fjelland… - Familial cancer, 2009 - Springer
Turcot syndrome is a rare, inherited disease predisposing of tumours in the central nerve
system and in the colorectal system. This report describes a Turcot patient with an …

Diagnostic uncertainties, ethical tensions, and accounts of role responsibilities in genetic counseling communication

G Thomassen Hammerstad, S Sarangi… - Journal of genetic …, 2020 - Wiley Online Library
Diagnostic uncertainties are intricately associated with genomic testing—especially
concerning new technologies such as exome sequencing—with test results being either …

De novo Huntington disease caused by 26–44 CAG repeat expansion on a low-risk haplotype

G Houge, O Bruland, I Bjørnevoll, MR Hayden… - Neurology, 2013 - AAN Enterprises
Huntington disease (HD, OMIM# 143100) is a dominantly inherited neurodegenerative
disorder due to a CAG repeat expansion in the HTT gene, encoding a polyglutamine tract in …

[HTML][HTML] The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry

EM Grindedal, H Aarset, I Bjørnevoll, E Røyset… - Hereditary cancer in …, 2014 - Springer
Background Using immunohistochemistry (IHC) to select cases for mismatch repair (MMR)
genetic testing, we failed to identify a large kindred with the deleterious PMS2 mutation c …