Search Results - "Hoogerbrugge, Nicoline"

"Patient Journeys": improving care by patient involvement by Bolz-Johnson, Matt, Meek, Jelena, Hoogerbrugge, Nicoline

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A review on age‐related cancer risks in PTEN hamartoma tumor syndrome by Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Schuurs‐Hoeijmakers, Janneke H.M., Vos, Janet R.

“…Patients with PTEN hamartoma tumor syndrome (PHTS, comprising Cowden, Bannayan‐Riley‐Ruvalcaba, and Proteus‐like syndromes) are at increased risk of developing…”
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Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors by Mensenkamp, Arjen R, Vogelaar, Ingrid P, van Zelst–Stams, Wendy A.G, Goossens, Monique, Ouchene, Hicham, Hendriks–Cornelissen, Sandra J.B, Kwint, Michael P, Hoogerbrugge, Nicoline, Nagtegaal, Iris D, Ligtenberg, Marjolijn J.L

“…Lynch syndrome is caused by germline mutations in the mismatch repair (MMR) genes. Tumors are characterized by microsatellite instability (MSI). However, a…”
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Influence of Risk Category and Screening Round on the Performance of an MR Imaging and Mammography Screening Program in Carriers of the BRCA Mutation and Other Women at Increased Risk by Vreemann, Suzan, Gubern-Mérida, Albert, Schlooz-Vries, Margrethe S, Bult, Peter, van Gils, Carla H, Hoogerbrugge, Nicoline, Karssemeijer, Nico, Mann, Ritse M

“…Purpose To evaluate the real-life performance of a breast cancer screening program for women with different categories of increased breast cancer risk with…”
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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results by Plon, Sharon E, Eccles, Diana M, Easton, Douglas, Foulkes, William D, Genuardi, Maurizio, Greenblatt, Marc S, Hogervorst, Frans B.L, Hoogerbrugge, Nicoline, Spurdle, Amanda B, Tavtigian, Sean V

“…Genetic testing of cancer susceptibility genes is now widely applied in clinical practice to predict risk of developing cancer. In general, sequence-based…”
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NTHL1 and MUTYH polyposis syndromes: two sides of the same coin? by Weren, Robbert DA, Ligtenberg, Marjolijn JL, Geurts van Kessel, Ad, De Voer, Richarda M, Hoogerbrugge, Nicoline, Kuiper, Roland P

“…It is now well established that germline genomic aberrations can underlie high‐penetrant familial polyposis and colorectal cancer syndromes, but a genetic…”
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Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk by ten Broeke, Sanne W, Brohet, Richard M, Tops, Carli M, van der Klift, Heleen M, Velthuizen, Mary E, Bernstein, Inge, Capellá Munar, Gabriel, Gomez Garcia, Encarna, Hoogerbrugge, Nicoline, Letteboer, Tom G W, Menko, Fred H, Lindblom, Annika, Mensenkamp, Arjen R, Moller, Pal, van Os, Theo A, Rahner, Nils, Redeker, Bert J W, Sijmons, Rolf H, Spruijt, Liesbeth, Suerink, Manon, Vos, Yvonne J, Wagner, Anja, Hes, Frederik J, Vasen, Hans F, Nielsen, Maartje, Wijnen, Juul T

“…The clinical consequences of PMS2 germline mutations are poorly understood compared with other Lynch-associated mismatch repair gene (MMR) mutations. The aim…”
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Effect of PTEN inactivating germline mutations on innate immune cell function and thyroid cancer-induced macrophages in patients with PTEN hamartoma tumor syndrome by Sloot, Yvette J. E., Rabold, Katrin, Netea, Mihai G., Smit, Johannes W. A., Hoogerbrugge, Nicoline, Netea-Maier, Romana T.

“…PTEN hamartoma tumor syndrome (PHTS) is caused by inactivating germline PTEN mutations with subsequent activation of Akt-mTOR signaling, leading to an…”
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Microsatellite instability screening in colorectal adenomas to detect Lynch syndrome patients? A systematic review and meta-analysis by Dabir, Parag D, Bruggeling, Carlijn E, van der Post, Rachel S, Dutilh, Bas E, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J L, Boleij, Annemarie, Nagtegaal, Iris D

“…The colorectal cancer spectrum has changed due to population screening programs, with a shift toward adenomas and early cancers. Whether it would be a feasible…”
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Determinants of adherence to recommendations for cancer prevention among Lynch Syndrome mutation carriers: A qualitative exploration by Visser, Annemiek, Vrieling, Alina, Murugesu, Laxsini, Hoogerbrugge, Nicoline, Kampman, Ellen, Hoedjes, Meeke

“…Lynch Syndrome (LS) mutation carriers are at high risk for various cancer types, particularly colorectal cancer. Adherence to lifestyle and body weight…”
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BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study by Høberg-Vetti, Hildegunn, Bjorvatn, Cathrine, Fiane, Bent E, Aas, Turid, Woie, Kathrine, Espelid, Helge, Rusken, Tone, Eikesdal, Hans Petter, Listøl, Wenche, Haavind, Marianne T, Knappskog, Per M, Haukanes, Bjørn Ivar, Steen, Vidar M, Hoogerbrugge, Nicoline

“…Germline BRCA1/2 testing of breast and ovarian cancer patients is growing rapidly as the result affects both treatment and cancer prevention in patients and…”
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The added value of mammography in different age-groups of women with and without BRCA mutation screened with breast MRI by Vreemann, Suzan, van Zelst, Jan C M, Schlooz-Vries, Margrethe, Bult, Peter, Hoogerbrugge, Nicoline, Karssemeijer, Nico, Gubern-Mérida, Albert, Mann, Ritse M

“…Breast magnetic resonance imaging (MRI) is the most sensitive imaging method for breast cancer detection and is therefore offered as a screening technique to…”
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Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome by Schei-Andersen, Ane J., van Oirschot, Bart, Drissen, Meggie M.C.M., Schieving, Jolanda, Schuurs-Hoeijmakers, Janneke H.M., Vos, Janet R., Barton, Claire M., Hoogerbrugge, Nicoline

“…Patients with PTEN hamartoma tumour syndrome (PHTS) have an increased risk of developing cancer due to a pathogenic germline variant in the PTEN tumour…”
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Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium by Li, Hongyan, Terry, Mary Beth, Antoniou, Antonis C, Phillips, Kelly-Anne, Kast, Karin, Mooij, Thea M, Engel, Christoph, Noguès, Catherine, Stoppa-Lyonnet, Dominique, Lasset, Christine, Berthet, Pascaline, Mari, Veronique, Caron, Olivier, Barrowdale, Daniel, Frost, Debra, Brewer, Carole, Evans, D Gareth, Izatt, Louise, Side, Lucy, Walker, Lisa, Tischkowitz, Marc, Rogers, Mark T, Porteous, Mary E, Snape, Katie, Meijers-Heijboer, Hanne E J, Gille, Johan J P, Blok, Marinus J, Hoogerbrugge, Nicoline, Daly, Mary B, Andrulis, Irene L, Buys, Saundra S, John, Esther M, McLachlan, Sue-Anne, Friedlander, Michael, Tan, Yen Y, Osorio, Ana, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Arver, Brita, Olsson, Håkan, Schmutzler, Rita K, Hopper, John L, Milne, Roger L, Easton, Douglas F, Van Leeuwen, Flora E, Rookus, Matti A, Andrieu, Nadine, Goldgar, David E

“…Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effects on the risk of breast cancer, but very…”
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Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies by Te Paske, Iris B A W, Ligtenberg, Marjolijn J L, Hoogerbrugge, Nicoline, de Voer, Richarda M

“…To discover novel high-penetrant risk loci for hereditary colorectal cancer (hCRC) and polyposis syndromes many whole-exome and whole-genome sequencing…”
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European Reference Networks: challenges and opportunities by Tumiene, Birute, Graessner, Holm, Mathijssen, Irene MJ, Pereira, Alberto M, Schaefer, Franz, Scarpa, Maurizio, Blay, Jean-Yves, Dollfus, Helene, Hoogerbrugge, Nicoline

“…European Reference Networks (ERNs) were founded on the principle that many rare disease (RD) issues are pan-European and any single Member State cannot solve…”
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Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer by de Voer, Richarda M., Hahn, Marc-Manuel, Mensenkamp, Arjen R., Hoischen, Alexander, Gilissen, Christian, Henkes, Arjen, Spruijt, Liesbeth, van Zelst-Stams, Wendy A., Marleen Kets, C., Verwiel, Eugene T., Nagtegaal, Iris D., Schackert, Hans K., van Kessel, Ad Geurts, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., Kuiper, Roland P.

“…Bloom syndrome is an autosomal recessive disorder characterized by chromosomal instability and increased cancer risk, caused by biallelic mutations in the…”
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Outcomes of screening gastroscopy in first-degree relatives of patients fulfilling hereditary diffuse gastric cancer criteria by van der Post, Rachel S., MD, van Dieren, Jolanda, MD, PhD, Grelack, Anna, MD, Hoogerbrugge, Nicoline, MD, PhD, van der Kolk, Lizet E., MD, PhD, Snaebjornsson, Petur, MD, PhD, Lansdorp-Vogelaar, Iris, PhD, van Krieken, J. Han, MD, PhD, Bisseling, Tanya M., MD, PhD, Cats, Annemieke, MD, PhD

“…Background and Aims The aim of this study was to determine the yield of endoscopic screening in first-degree relatives (FDRs) of CDH1 -negative hereditary…”
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PTEN Hamartoma Tumor Syndrome and Immune Dysregulation by Eissing, Marc, Ripken, Lise, Schreibelt, Gerty, Westdorp, Harm, Ligtenberg, Marjolijn, Netea-Maier, Romana, Netea, Mihai G., de Vries, I. Jolanda M., Hoogerbrugge, Nicoline

“…Carriers of a pathogenic germline mutations in the PTEN gene, a well-known tumor suppressor gene, are at increased risk of multiple benign and malignant…”
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A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report by Te Paske, Iris B A W, Garcia-Pelaez, José, Sommer, Anna K, Matalonga, Leslie, Starzynska, Teresa, Jakubowska, Anna, van der Post, Rachel S, Lubinski, Jan, Oliveira, Carla, Hoogerbrugge, Nicoline, de Voer, Richarda M

“…Hereditary diffuse gastric cancer (HDGC) is associated with germline deleterious variants in CDH1 and CTNNA1. The majority of HDGC-suspected patients are still…”
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