• Germline pathogenic variants in patients with high-grade gastroenteropancreatic neuroendocrine neoplasms 

      Venizelos, Andreas; Sorbye, Halfdan; Elvebakken, Hege; Perren, Aurel; Lothe, Inger Marie Bowitz; Couvelard, Anne; Hjortland, Geir Olav; Sundlöv, Anna; Svensson, Johanna; Garresori, Herish; Kersten, Christian; Hofsli, Eva; Detlefsen, Sönke; Vestermark, Lene W.; Ladekarl, Morten; Tabaksblat, Elizaveta Mitkina; Knappskog, Stian (Journal article; Peer reviewed, 2023)
      High-grade gastroenteropancreatic (HG-GEP) neuroendocrine neoplasms (NENs) are highly aggressive cancers. The molecular etiology of these tumors remains unclear, and the prevalence of pathogenic germline variants in patients ...
    • High PTEN gene expression is a negative prognostic marker in human primary breast cancers with preserved p53 function 

      Yndestad, Synnøve; Austreid, Eilin; Knappskog, Stian; Chrisanthar, Ranjan; Lilleng, Peer Kåre; Lønning, Per Eystein; Eikesdal, Hans Petter (Peer reviewed; Journal article, 2017)
      Purpose: PTEN is an important tumor suppressor in breast cancer. Here, we examined the prognostic and predictive value of PTEN and PTEN pseudogene (PTENP1) gene expression in patients with locally advanced breast cancer ...
    • Identification and characterization of retinoblastoma gene mutations disturbing apoptosis in human breast cancers 

      Berge, Elisabet Ognedal; Knappskog, Stian; Geisler, Stephanie; Staalesen, Vidar; Pacal, Marec; Børresen-Dale, Anne-Lise; Puntervoll, Pål; Lillehaug, Johan; Lønning, Per Eystein (Peer reviewed; Journal article, 2010-07-01)
      Background The tumor suppressor pRb plays a key role regulating cell cycle arrest, and disturbances in the RB1 gene have been reported in different cancer forms. However, the literature reports contradictory findings with ...
    • Impact of KRAS, BRAF, PIK3CA, TP53 status and intraindividual mutation heterogeneity on outcome after liver resection for colorectal cancer metastases 

      Løes, Inger Marie; Immervoll, Heike; Sorbye, Halfdan; Angelsen, Jon-Helge; Horn, Arild; Knappskog, Stian; Lønning, Per Eystein (Peer reviewed; Journal article, 2016-04)
      We determined prognostic impact of KRAS, BRAF, PIK3CA and TP53 mutation status and mutation heterogeneity among 164 colorectal cancer (CRC) patients undergoing liver resections for metastatic disease. Mutation status was ...
    • Impact of MDM2 promoter SNP55 (rs2870820) on risk of endometrial and ovarian cancer 

      Helwa, Reham; Gansmo, Liv Beathe; Bjørnslett, Merete Pauline; Halle, Mari Kyllesø; Werner, Henrica Maria Johanna; Romundstad, Pål Richard; Hveem, Kristian; Vatten, Lars Johan; Dørum, Anne; Lønning, Per Eystein; Knappskog, Stian (Journal article; Peer reviewed, 2021)
      Background While large GWAS analyses have not found convincing associations between MDM2 promoter SNP55 and gynaecological cancers, SNP55 is in linkage disequilibrium with two other functional SNPs in the same promoter, ...
    • Impact of the APOBEC3A/B deletion polymorphism on risk of ovarian cancer 

      Gansmo, Liv Beathe; Sofiyeva, Nigar; Bjørnslett, Merete Pauline; Romundstad, Pål Richard; Hveem, Kristian; Vatten, Lars Johan; Dørum, Anne; Lønning, Per Eystein; Knappskog, Stian (Journal article; Peer reviewed, 2021)
      A germline 29.5-kb deletion variant removes the 3’ end of the APOBEC3A gene and a large part of APOBEC3B, creating a hybrid gene that has been linked to increased APOBEC3 activity and DNA damage in human cancers. We genotyped ...
    • Influence of MDM2 SNP309 and SNP285 status on the risk of cancer in the breast, prostate, lung and colon 

      Gansmo, Liv Beathe; Knappskog, Stian; Romundstad, Pål Richard; Hveem, Kristian; Vatten, Lars; Lønning, Per Eystein (Peer reviewed; Journal article, 2015-07)
      MDM2 is a key regulator of the p53 tumor suppressor protein and is overexpressed in many human cancers. Two single nucleotide polymorphisms (SNPs) located in the MDM2 intronic promoter (P2) have been found to exert biological ...
    • Influence of p53 isoform expression on survival in high-grade serous ovarian cancers 

      Bischof, Katharina; Knappskog, Stian; Hjelle, Sigrun Margrethe; Stefansson, Ingunn; Woie, Kathrine; Salvesen, Helga; Gjertsen, Bjørn Tore; Bjørge, Line (Peer reviewed; Journal article, 2019-03-27)
      High-grade serous ovarian carcinoma (HGSOC) is characterised by alterations in the p53 pathway. The expression levels of p53 isoforms have been shown to be associated with patient survival in several cancers. This study ...
    • Low expression levels of ATM may substitute for CHEK2 / TP53 mutations predicting resistance towards anthracycline and mitomycin chemotherapy in breast cancer 

      Knappskog, Stian; Chrisanthar, Ranjan; Løkkevik, Erik; Anker, Gun Birgitta; Østenstad, Bjørn; Lundgren, Steinar; Risberg, Terje; Mjaaland, Ingvil; Leirvaag, Beryl; Miletic, Hrvoje; Lønning, Per Eystein (Peer reviewed; Journal article, 2012-03-15)
      Introduction: Mutations affecting p53 or its upstream activator Chk2 are associated with resistance to DNAdamaging chemotherapy in breast cancer. ATM (Ataxia Telangiectasia Mutated protein) is the key activator of p53 and ...
    • MDM2 promoter polymorphism del1518 (rs3730485) and its impact on endometrial and ovarian cancer risk 

      Gansmo, Liv Beathe; Bjørnslett, Merete Pauline; Halle, Mari Kyllesø; Salvesen, Helga; Romundstad, Pål Richard; Hveem, Kristian; Vatten, Lars Johan; Dørum, Anne; Lønning, Per Eystein; Knappskog, Stian (Peer reviewed; Journal article, 2017-02-03)
      Background: The del1518 (rs3730485) polymorphism is an in/del variant in the MDM2 promoter P1. The variant is in complete linkage disequilibrium with MDM2 SNP309 (rs2279744) and has previously been found associated with ...
    • MDM2 Promoter SNP344T>A (rs1196333) Status Does Not Affect Cancer Risk 

      Knappskog, Stian; Gansmo, Liv B.; Romundstad, Pål; Bjørnslett, Merete; Trovik, Jone; Lønning, Per Eystein; Salvesen, Helga Birgitte (Peer reviewed; Journal article, 2012-04-30)
      The MDM2 proto-oncogene plays a key role in central cellular processes like growth control and apoptosis, and the gene locus is frequently amplified in sarcomas. Two polymorphisms located in the MDM2 promoter P2 have been ...
    • MDM2 promoter SNP55 (rs2870820) affects risk of colon cancer but not breast-, lung-, or prostate cancer 

      Helwa, Reham; Gansmo, Liv Beathe; Romundstad, Pål Richard; Hveem, Kristian; Vatten, Lars Johan; Ryan, Bríd M.; Harris, Curtis C.; Lønning, Per Eystein; Knappskog, Stian (Peer reviewed; Journal article, 2016-09-14)
      Two functional SNPs (SNP285G > C; rs117039649 and SNP309T > G; rs2279744) have previously been reported to modulate Sp1 transcription factor binding to the promoter of the proto-oncogene MDM2, and to influence cancer risk. ...
    • MDM4 SNP34091 (rs4245739) and its effect on breast-, colon-, lung- and prostate cancer risk. 

      Gansmo, Liv Beathe; Romundstad, Pål Richard; Birkeland, Einar Elvbakken; Hveem, Kristian; Vatten, Lars Johan; Knappskog, Stian; Lønning, Per Eystein (Peer reviewed; Journal article, 2015-10-16)
      The MDM4 protein plays an important part in the negative regulation of the tumor suppressor p53 through its interaction with MDM2. In line with this, MDM4 amplification has been observed in several tumor forms. A polymorphism ...
    • The MDM4 SNP34091 (rs4245739) C-allele is associated with increased risk of ovarian—but not endometrial cancer 

      Gansmo, Liv Beathe; Bjørnslett, Merete Pauline; Halle, Mari Kyllesø; Salvesen, Helga Birgitte; Dørum, Anne; Birkeland, Einar Elvbakken; Hveem, Kristian; Romundstad, Pål Richard; Vatten, Lars Johan; Lønning, Per Eystein; Knappskog, Stian (Peer reviewed; Journal article, 2016-02-11)
      The MDM4 protein (also known as MDMX or HDMX) is a negative regulator of p53, not only by direct interaction but also through its interaction with MDM2. Further, MDM4 overexpression and amplification have been observed in ...
    • Molecular and phenotypic characteristics influencing the degree of cytoreduction in high-grade serous ovarian carcinomas 

      Torkildsen, Cecilie Fredvik; Thomsen, Liv Cecilie Vestrheim; Sande, Ragnar; Krakstad, Camilla; Stefansson, Ingunn Marie; Lamark, Eva Karin; Knappskog, Stian; Bjørge, Line (Journal article; Peer reviewed, 2023)
      Background: High-grade serous ovarian carcinoma (HGSOC) is the deadliest ovarian cancer subtype, and survival relates to initial cytoreductive surgical treatment. The existing tools for surgical outcome prediction remain ...
    • The molecular characteristics of high-grade gastroenteropancreatic neuroendocrine neoplasms 

      Venizelos, Andreas; Elvebakken, Hege; Perren, Aurel; Nikolaienko, Oleksii; Deng, Wei; Lothe, Inger Marie Bowitz; Couvelard, Anne; Hjortland, Geir Olav; Sundlöv, Anna; Svensson, Johanna; Garresori, Herish; Kersten, Christian; Hofsli, Eva; Detlefsen, Sönke; Krogh, Merete; Sørbye, Halfdan; Knappskog, Stian (Journal article; Peer reviewed, 2021)
      High-grade (HG) gastroenteropancreatic (GEP) neuroendocrine neoplasms (NEN) are rare but have a very poor prognosis and represent a severely understudied class of tumours. Molecular data for HG GEP-NEN are limited, and ...
    • Mutation analysis by deep sequencing of pancreatic juice from patients with pancreatic ductal adenocarcinoma 

      Choi, Man Hung; Mejlænder-Andersen, Eline; Manueldas, Sophia; el Jellas, Khadija; Steine, Solrun; Tjensvoll, Kjersti; Sætran, Hege Aase; Knappskog, Stian; Hoem, Dag; Nordgård, Oddmund; Hovland, Randi; Molven, Anders (Peer reviewed; Journal article, 2019-01-05)
      Background Reliable methods are needed to identify patients with early-stage cancer or high-grade precancerous lesions in the pancreas. Analysis of pancreatic juice to detect somatic mutations could represent one such ...
    • Mutational Signature 3 Detected from Clinical Panel Sequencing is Associated with Responses to Olaparib in Breast and Ovarian Cancers 

      Batalini, Felipe; Gulhan, Doga C.; Mao, Victor; Tran, Antuan; Polak, Madeline; Xiong, Niya; Tayob, Nabihah; Tung, Nadine M.; Winer, Eric P.; Mayer, Erica L.; Knappskog, Stian; Lønning, Per Eystein; Matulonis, Ursula A.; Konstantinopoulos, Panagiotis A.; Solit, David B.; Won, Helen; Eikesdal, Hans Petter; Park, Peter J.; Wulf, Gerburg M. (Journal article; Peer reviewed, 2022)
      Purpose: The identification of patients with homologous recombination deficiency (HRD) beyond BRCA1/2 mutations is an urgent task, as they may benefit from PARP inhibitors. We have previously developed a method to detect ...
    • The novel microRNAs hsa-miR-nov7 and hsamiR- nov3 are over-expressed in locally advanced breast cancer 

      Poduval, Deepak; Sichmanovà, Zuzana; Straume, Anne Hege; Lønning, Per Eystein; Knappskog, Stian (Journal article; Peer reviewed, 2020)
      miRNAs are an important class of small non-coding RNAs, which play a versatile role in gene regulation at the post-transcriptional level. Expression of miRNAs is often deregulated in human cancers. We analyzed small RNA ...
    • Obesity-associated changes in molecular biology of primary breast cancer 

      Nguyen, Ha-Linh; Geukens, Tatjana; Maetens, Marion; Aparicio, Samuel; Bassez, Ayse; Borg, Ake; Brock, Jane; Broeks, Annegien; Caldas, Carlos; Cardoso, Fatima; De Schepper, Maxim; Delorenzi, Mauro; Drukker, Caroline A.; Glas, Annuska M.; Green, Andrew R.; Isnaldi, Edoardo; Eyfjörð, Jórunn; Khout, Hazem; Knappskog, Stian; Krishnamurthy, Savitri; Lakhani, Sunil R.; Langerød, Anita; Martens, John W. M.; McCart Reed, Amy E.; Murphy, Leigh; Naulaerts, Stefan; Nik-Zainal, Serena; Nevelsteen, Ines; Neven, Patrick; Piccart, Martine; Poncet, Coralie; Punie, Kevin; Purdie, Colin; Rakha, Emad A.; Richardson, Andrea; Rutgers, Emiel; Vincent-Salomon, Anne; Simpson, Peter T.; Schmidt, Marjanka K.; Sotiriou, Christos; Span, Paul N.; Tan, Kiat Tee Benita; Thompson, Alastair; Tommasi, Stefania; Van Baelen, Karen; Van de Vijver, Marc; Van Laere, Steven; van’t Veer, Laura; Viale, Giuseppe; Viari, Alain; Vos, Hanne; Witteveen, Anke T.; Wildiers, Hans; Floris, Giuseppe; Garg, Abhishek D.; Smeets, Ann; Lambrechts, Diether; Biganzoli, Elia; Richard, François; Desmedt, Christine (Journal article; Peer reviewed, 2023)
      Obesity is associated with an increased risk of developing breast cancer (BC) and worse prognosis in BC patients, yet its impact on BC biology remains understudied in humans. This study investigates how the biology of ...