Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene

Autor: Irma van de Beek, Iris E. Glykofridis, Michael W. T. Tanck, Monique N. H. Luijten, Theo M. Starink, Jesper A. Balk, Paul C. Johannesma, Eric Hennekam, Maurice J. B. van den Hoff, Quinn D. Gunst, Johan J. P. Gille, Abeltje M. Polstra, Pieter E. Postmus, Maurice A. M. van Steensel, Alex V. Postma, Rob M. F. Wolthuis, Fred H. Menko, Arjan C. Houweling, Quinten Waisfisz

Publikováno v: van de Beek, I, Glykofridis, I E, Tanck, M W T, Luijten, M N H, Starink, T M, Balk, J A, Johannesma, P C, Hennekam, E, van den Hoff, M J B, Gunst, Q D, Gille, J J P, Polstra, A M, Postmus, P E, van Steensel, M A M, Postma, A V, Wolthuis, R M F, Menko, F H, Houweling, A C & Waisfisz, Q 2023, ' Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene ', Journal of human genetics, vol. 68, no. 4, pp. 273-279 . https://doi.org/10.1038/s10038-022-01113-1
Journal of human genetics. Nature Publishing Group
Journal of human genetics, 68(4), 273-279. Nature Publishing Group

Previously, we reported a series of families presenting with trichodiscomas, inherited in an autosomal dominant pattern. The phenotype was named familial multiple discoid fibromas (FMDF). The genetic cause of FMDF remained unknown so far. Trichodisco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db2dc04d649ec5fe2082f5e11c601c87
http://www.scopus.com/inward/record.url?scp=85145610461&partnerID=8YFLogxK

Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing

Autor: Johan J. P. Gille, Karijn Floor, Lianne Kerkhoven, Najim Ameziane, Hans Joenje, Johan P. de Winter

Publikováno v: Anemia, Vol 2012 (2012)

Fanconi anemia (FA) is a rare inherited disease characterized by developmental defects, short stature, bone marrow failure, and a high risk of malignancies. FA is heterogeneous: 15 genetic subtypes have been distinguished so far. A clinical diagnosis

Externí odkaz: https://doaj.org/article/b36a91fae82a4b60b494f646fd47d5d4

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for

Autor: Hongyan, Li, Mary Beth, Terry, Antonis C, Antoniou, Kelly-Anne, Phillips, Karin, Kast, Thea M, Mooij, Christoph, Engel, Catherine, Noguès, Dominique, Stoppa-Lyonnet, Christine, Lasset, Pascaline, Berthet, Veronique, Mari, Olivier, Caron, Daniel, Barrowdale, Debra, Frost, Carole, Brewer, D Gareth, Evans, Louise, Izatt, Lucy, Side, Lisa, Walker, Marc, Tischkowitz, Mark T, Rogers, Mary E, Porteous, Katie, Snape, Hanne E J, Meijers-Heijboer, Johan J P, Gille, Marinus J, Blok, Nicoline, Hoogerbrugge, Mary B, Daly, Irene L, Andrulis, Saundra S, Buys, Esther M, John, Sue-Anne, McLachlan, Michael, Friedlander, Yen Y, Tan, Ana, Osorio, Trinidad, Caldes, Anna, Jakubowska, Jacques, Simard, Christian F, Singer, Edith, Olah, Marie, Navratilova, Lenka, Foretova, Anne-Marie, Gerdes, Marie-José, Roos-Blom, Brita, Arver, Håkan, Olsson, Rita K, Schmutzler, John L, Hopper, Roger L, Milne, Douglas F, Easton, Flora E, Van Leeuwen, Matti A, Rookus, Nadine, Andrieu, David E, Goldgar

Publikováno v: Cancer Epidemiol Biomarkers Prev

BACKGROUND: Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effects on the risk of breast cancer (BC), but very few studies have examined these effects in BRCA1 and BRCA2 mutation carrie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::feef04b8805c096f76e1351b8c6220ea
https://pubmed.ncbi.nlm.nih.gov/31792088

Relative frequency and morphology of cancers in STK11 mutation carriers

Autor: Wendy, Lim, Sylviane, Olschwang, Josbert J, Keller, Anne Marie, Westerman, Fred H, Menko, Lisa A, Boardman, Rodney J, Scott, Jill, Trimbath, Francis M, Giardiello, Stephen B, Gruber, Johan J P, Gille, G Johan A, Offerhaus, Felix W M, de Rooij, J H Paul, Wilson, Allan D, Spigelman, Robin K S, Phillips, Richard S, Houlston

Publikováno v: Gastroenterology. 126(7)

There is limited data on the spectrum and risk for cancer associated with germline serine/threonine protein kinase 11 (STK11) mutations that cause Peutz-Jeghers syndrome (PJS).We analyzed the incidence of cancer in 240 individuals with PJS possessing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0a9d1d031476f818f87ecc4f4ce103fe
https://pubmed.ncbi.nlm.nih.gov/15188174