Search Results - "Collée, J"
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Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study
Published in JNCI : Journal of the National Cancer Institute (04-09-2021)“…Endometrial cancer (EC) risk in BReast CAncer gene 1/2 (BRCA1/2) mutation carriers is uncertain; therefore, we assessed this in a large Dutch nationwide cohort…”
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Substantial breast cancer risk reduction and potential survival benefit after bilateral mastectomy when compared with surveillance in healthy BRCA1 and BRCA2 mutation carriers: a prospective analysis
Published in Annals of oncology (01-08-2013)“…To prospectively assess the efficacy of bilateral risk-reducing mastectomy (BRRM) when compared with surveillance on breast cancer (BC) risk and mortality in…”
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The benefit of adding polygenic risk scores, lifestyle factors, and breast density to family history and genetic status for breast cancer risk and surveillance classification of unaffected women from germline CHEK2 c.1100delC families
Published in Breast (Edinburgh) (01-02-2024)“…To determine the changes in surveillance category by adding a polygenic risk score based on 311 breast cancer (BC)-associated variants (PRS311),…”
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Survival and contralateral breast cancer in CHEK2 1100delC breast cancer patients: impact of adjuvant chemotherapy
Published in British journal of cancer (26-08-2014)“…Background: We assessed the sensitivity to adjuvant chemotherapy in cell cycle checkpoint kinase 2 ( CHEK2 ) vs non- CHEK2 breast cancer patients by comparing…”
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Breast cancer genomes from CHEK2 c.1100delC mutation carriers lack somatic TP53 mutations and display a unique structural variant size distribution profile
Published in Breast cancer research : BCR (09-05-2023)“…CHEK2 c.1100delC was the first moderate-risk breast cancer (BC) susceptibility allele discovered. Despite several genomic, transcriptomic and functional…”
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The benefit of adding polygenic risk scores, lifestyle factors, and breast density to family history and genetic status for breast cancer risk and surveillance classification of unaffected women from germline CHEK2 c.1100delC families
Published in Breast (Edinburgh) (01-06-2024)“…To determine the changes in surveillance category by adding a polygenic risk score based on 311 breast cancer (BC)-associated variants (PRS311),…”
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Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families
Published in Genetics in medicine (01-09-2024)“…Female CHEK2 c.1100delC heterozygotes are eligible for additional breast surveillance because of an increased breast cancer risk. Increased risks for other…”
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Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations
Published in Journal of medical genetics (01-02-2014)“…BRCA1 or BRCA2 mutations confer increased risks of breast and ovarian cancer, but risks have been found to vary across studies and populations. We ascertained…”
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Effects of chemotherapy on contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers: A nationwide cohort study
Published in Breast (Edinburgh) (01-02-2022)“…BRCA1/2 mutation carriers with primary breast cancer (PBC) are at high risk of contralateral breast cancer (CBC). In a nationwide cohort, we investigated the…”
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Long-term outcome of high-grade serous carcinoma established in risk-reducing salpingo-oophorectomy specimens in asymptomatic BRCA1/2 germline pathogenic variant carriers
Published in Gynecologic oncology (01-08-2024)“…The aim of this study was to describe the long-term outcome of asymptomatic BRCA1/2 germline pathogenic variant (GPV) carriers with high-grade serous carcinoma…”
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Urinary incontinence more than 15 years after premenopausal risk‐reducing salpingo‐oophorectomy: a multicentre cross‐sectional study
Published in BJOG : an international journal of obstetrics and gynaecology (01-01-2024)“…Objective To study the impact of premenopausal risk‐reducing salpingo‐oophorectomy (RRSO), compared with postmenopausal RRSO, on urinary incontinence (UI) ≥10…”
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Molecular determination of the clonal relationships between multiple tumors in BRCA1/2-associated breast and/or ovarian cancer patients is clinically relevant
Published in Modern pathology (01-01-2017)“…Female BRCA1/2 mutation carriers affected with breast and/or ovarian cancer may develop new tumor deposits over time. It is of utmost importance to know the…”
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Sexual functioning more than 15 years after premenopausal risk-reducing salpingo-oophorectomy
Published in American journal of obstetrics and gynecology (01-04-2023)“…Women with a BRCA1/2 pathogenic variant are advised to undergo premenopausal risk-reducing salpingo-oophorectomy after completion of childbearing, to reduce…”
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Physical activity and the risk of breast cancer in BRCA1/2 mutation carriers
Published in Breast cancer research and treatment (01-02-2010)“…BRCA1/2 mutation carriers have a high lifetime risk of developing breast cancer. Differences in penetrance indicate that this risk may be influenced by…”
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PTEN in colorectal cancer: a report on two Cowden syndrome patients
Published in Clinical genetics (01-06-2012)“…Kersseboom R, Dubbink HJ, Corver WE, van Tilburg AJP, Poley JW, van Leerdam ME, Atmodimedjo PN, van de Laar IMBH, Collée JM, Dinjens WNM, Morreau H, Wagner A…”
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Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk
Published in Scientific reports (18-07-2016)“…The HOXB13 p.G84E mutation has been firmly established as a prostate cancer susceptibility allele. Although HOXB13 also plays a role in breast tumor…”
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Sensitivity to systemic therapy for metastatic breast cancer in CHEK2 1100delC mutation carriers
Published in Journal of cancer research and clinical oncology (01-10-2015)“…Purpose The role of CHEK2 in DNA repair by homologous recombination suggests that CHEK2 -associated breast cancer (BC) patients might be more sensitive to…”
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Erratum to ‘The benefit of adding polygenic risk scores, lifestyle factors, and breast density to family history and genetic status for breast cancer risk and surveillance classification of unaffected women from germline CHEK2 c.1100delC families’ [The Breast 73 (2024) 103611]
Published in Breast (Edinburgh) (01-06-2024)Get full text
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Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset
Published in American journal of human genetics (05-09-2024)“…Co-observation of a gene variant with a pathogenic variant in another gene that explains the disease presentation has been designated as evidence against…”
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