Search Results - "Askmalm, Marie Stenmark"
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Corticotroph Pituitary Carcinoma in a Patient With Lynch Syndrome (LS) and Pituitary Tumors in a Nationwide LS Cohort
Published in The journal of clinical endocrinology and metabolism (01-11-2017)“…Abstract Context Lynch syndrome (LS) is a cancer-predisposing syndrome caused by germline mutations in genes involved in DNA mismatch repair (MMR). Patients…”
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2
TERT promoter mutations and polymorphisms as prognostic factors in primary glioblastoma
Published in Oncotarget (30-06-2015)“…Telomerase reverse transcriptase (TERT) activity is up-regulated in several types of tumors including glioblastoma (GBM). In the present study, 128 primary…”
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3
Evolution of DNA repair defects during malignant progression of low-grade gliomas after temozolomide treatment
Published in Acta neuropathologica (01-04-2015)“…Temozolomide (TMZ) increases the overall survival of patients with glioblastoma (GBM), but its role in the clinical management of diffuse low-grade gliomas…”
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4
Whole‐body MRI surveillance in TP53 carriers is perceived as beneficial with no increase in cancer worry regardless of previous cancer: Data from the Swedish TP53 Study
Published in Cancer (15-03-2023)“…Background To evaluate the psychosocial consequences of surveillance with whole‐body MRI (WB‐MRI) in individuals with the heritable TP53‐related cancer…”
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5
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients
Published in Scientific reports (05-03-2021)“…Up to 10% of pediatric cancer patients harbor pathogenic germline variants in one or more cancer susceptibility genes. A recent study from the US reported…”
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6
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
Published in BMC cancer (10-08-2023)“…Genetic screening for pathogenic variants (PVs) in cancer predisposition genes can affect treatment strategies, risk prediction and preventive measures for…”
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7
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population
Published in Oncology reports (01-11-2016)“…Lynch syndrome caused by constitutional mismatch-repair defects is one of the most common hereditary cancer syndromes with a high risk for colorectal,…”
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8
A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients
Published in Scientific reports (20-07-2021)“…The risk of breast cancer associated with CHEK2: c.1100delC is 2–threefold but higher in carriers with a family history of breast cancer than without,…”
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9
Genetic anticipation in Swedish Lynch syndrome families
Published in PLoS genetics (31-10-2017)“…Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the…”
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10
The BRCA1/BRCA2/Rad51 complex is a prognostic and predictive factor in early breast cancer
Published in Radiotherapy and oncology (01-09-2007)“…Abstract Background and purpose The breast cancer susceptibility genes BRCA1 and BRCA2 interact with Rad51, one of the central components in the homologous…”
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11
A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families
Published in Hereditary cancer in clinical practice (23-10-2018)“…Lynch Syndrome is an autosomal dominant cancer syndrome caused by pathogenic germ-line variants in one of the DNA-mismatch-repair (MMR) genes or . Carriers are…”
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12
Intact Mre11/Rad50/Nbs1 Complex Predicts Good Response to Radiotherapy in Early Breast Cancer
Published in International journal of radiation oncology, biology, physics (01-05-2007)“…Purpose To investigate the expression and predictive role of the Mre11/Rad50/Nbs1 (MRN) complex and the ataxia-telangiectasia mutated protein (ATM) for the…”
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13
Low expression of Ku70/80, but high expression of DNA-PKcs, predict good response to radiotherapy in early breast cancer
Published in International journal of oncology (2010)“…The purpose was to study the prognostic and predictive roles of DNA protein kinase catalytic subunit (DNA-PKcs), Ku70/80 and p53 for the effect of radiotherapy…”
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14
A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia
Published in Case reports in gastrointestinal medicine (01-01-2015)“…Juvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract. We present a new pathogenic…”
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15
What Information Do Cancer Genetic Counselees Prioritize?
Published in Journal of genetic counseling (01-08-2012)“…This study explored the informational needs of individuals attending genetic counseling for hereditary cancer, using a free-choice and a forced choice method…”
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Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort
Published in Genes chromosomes & cancer (2022)“…Approximately 5% of patients with colorectal cancer (CRC) have a Mendelian predisposition for the disease. Identification of the disease‐causing genetic…”
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17
ABCB1 single-nucleotide variants and survival in patients with glioblastoma treated with radiotherapy concomitant with temozolomide
Published in The pharmacogenomics journal (01-04-2020)“…Standard treatment for glioblastoma (GBM) patients is surgery and radiochemotherapy (RCT) with temozolomide (TMZ). TMZ is a substrate for ABCB1, a…”
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18
The gynecological surveillance of women with Lynch syndrome in Sweden
Published in Gynecologic oncology (2015)“…Abstract Objective Women with Lynch syndrome (LS) have up to a 60% lifetime risk of endometrial cancer (EC) and up to a 24% risk of ovarian cancer (OC)…”
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Bilateral Prophylactic Mastectomy in Swedish Women at High Risk of Breast Cancer: A National Survey
Published in Annals of surgery (2011)“…This study attempted a national inventory of all bilateral prophylactic mastectomies performed in Sweden between 1995 and 2005 in high-risk women without a…”
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20
p53 polymorphic variants at codon 72 and the outcome of therapy in randomized breast cancer patients
Published in Pharmacogenetics and genomics (01-05-2006)“…BACKGROUNDAdjuvant therapy of breast cancer patients reduces the risk of recurrence and mortality, although, a substantial proportion of patients acquire…”
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