Kjersti Jørgensen

FLCN loss is characterized by SQSTM1/p62 accumulation despite functional autophagy flux in Birt-Hogg-Dubé syndrome-associated kidney cancer

Halvor Ullern, Julie Aarmo Johannessen, Feyza Kasikci, Miriam Formica et autres

Birt-Hogg-Dubé syndrome (BHD) is an autosomal, dominant condition caused by Folliculin (FLCN) mutation and characterized by enhanced risk for kidney tumors. Previous studies have shown constitutive nuclear localization of the transcription factor TFEB and simultaneous hyperactivation of canonical MTORC1 signaling in the …

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Data deposit for "FLCN loss is characterized by SQSTM1/p62 accumulation despite functional autophagy flux in Birt-Hogg-Dubé syndrome-associated kidney cancer"

Halvor Ullern, Julie Aarmo Johannessen, Feyza Kasikci, Miriam Formica et autres

This repository contains data supporting the manuscript "FLCN loss is characterized by SQSTM1/p62 accumulation despite functional autophagy flux in Birt-Hogg-Dubé syndrome-associated kidney cancer"Ullern, Johannessen et al 2026 This dataset contains: bhd_data_deposit.Rdata : Complete tabular dataset with raw values used for graphs and …

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Data deposit for "FLCN loss is characterized by SQSTM1/p62 accumulation despite functional autophagy flux in Birt-Hogg-Dubé syndrome-associated kidney cancer"

Halvor Ullern, Julie Aarmo Johannessen, Feyza Kasikci, Miriam Formica et autres

This repository contains data supporting the manuscript "FLCN loss is characterized by SQSTM1/p62 accumulation despite functional autophagy flux in Birt-Hogg-Dubé syndrome-associated kidney cancer"Ullern, Johannessen et al 2026 This dataset contains: bhd_data_deposit.Rdata : Complete tabular dataset with raw values used for graphs and …

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SQSTM1/p62 accumulation is a hallmark of FLCN loss in Birt-Hogg-Dubé syndrome-associated kidney cancer

Halvor Ullern, Julie Aarmo Johannessen, Feyza Kasikci, Miriam Formica et autres

Abstract Birt-Hogg-Dubé syndrome (BHD) is an autosomal, dominant condition caused by Folliculin (FLCN) mutation and characterized by enhanced risk for kidney tumors. Previous studies have shown constitutive nuclear localization of the transcription factor TFEB and simultaneous hyperactivation of canonical MTORC1 signaling in …

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Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)—a European cohort study

Linda A.J. Hendricks, Katja C J Verbeek, Janneke H. M. Schuurs-Hoeijmakers, Robin De Putter et autres

BACKGROUND: PTEN hamartoma tumour syndrome (PHTS) patients have a high hereditary risk of cancer, especially breast (BC), endometrial (EC), and thyroid cancer (TC). However, the prognosis of PHTS-related cancers is unknown. METHODS: This European cohort study included adult PHTS patients with data …

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The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)

Linda A.J. Hendricks, Katja C J Verbeek, Janneke H. M. Schuurs-Hoeijmakers, Mirjam M. de Jong et autres

PURPOSE: Patients with PTEN Hamartoma Tumor Syndrome (PHTS) have high hereditary cancer risks for breast, endometrial, and thyroid cancer. Patients develop multiple primary cancers, but these risks remain uncertain. We aimed to provide the second primary cancer risk. METHODS: This European cohort …

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Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)

Linda A.J. Hendricks, Katja C J Verbeek, Janneke H. M. Schuurs-Hoeijmakers, Arjen R. Mensenkamp et autres

Females with PTEN Hamartoma Tumor Syndrome (PHTS) have breast cancer risks up to 76%. This study assessed associations between breast cancer and lifestyle in European female adult PHTS patients. Data were collected via patient questionnaires (July 2020–March 2023) and genetic diagnoses from …

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“It was an important part of my treatment”: a qualitative study of Norwegian breast Cancer patients’ experiences with mainstreamed genetic testing

Nina Strømsvik, Pernilla Turunen Olsson, Berit Gravdehaug, Hilde Lurås et autres

BACKGROUND: In South-Eastern Norway, genetic testing for BRCA1 and BRCA2 is offered to breast cancer patients by their treating surgeon or oncologist. Genetic counselling from a geneticist or a genetic counsellor is offered only to those who test positive for a pathogenic …

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Birt-Hogg-Dubé-syndrom

Ingvil Berger, Siren Berland, Jezabel Rivero Rodriguez, Henrik Aamodt et autres

Lungemedisinsk avdeling Oslo universitetssykehus Hun har bidratt med idé, litteratursøk, tabell og foto, utarbeiding, revisjon og godkjenning av manus.Ingvil Berger er spesialist i lungemedisin og overlege.Forfatteren har fylt ut ICMJE-skjemaet og oppgir ingen interessekonflikter. SIREN BERLANDAvdeling for medisinsk genetikk Haukeland universitetssjukehus Hun …

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Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway

Eli Marie Grindedal, Kjersti Jørgensen, Pernilla Turunen Olsson, Berit Gravdehaug et autres

Studies have shown that a significant number of eligible breast cancer patients are not offered genetic testing or referral to genetic counseling. To increase access to genetic testing in South Eastern Norway, testing has since 2014 been offered directly to breast cancer …

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Mainstreamed Genetic Testing of Breast Cancer Patients in Two Hospitals in South Eastern Norway

Eli Marie Grindedal, Kjersti Jørgensen, Pernilla Turunen Olsson, Berit Gravdehaug et autres

Abstract Background: Identification of a BRCA mutation in a breast cancer patient provides critical information both for treatment decisions and for prevention of new cancers. In South Eastern Norway, genetic testing of the BRCA genes has been mainstreamed into breast cancer care. …

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A woman in her thirties with breast cancer and bilateral goitre

Eva Sigstad, Krystyna Kotanska Grøholt, Kjersti Jørgensen, Astrid Tenden Stormorken et autres