Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting

Autor: Hannes Jürgens, Laura Roht, Liis Leitsalu, Margit Nõukas, Marili Palover, Tiit Nikopensius, Anu Reigo, Mart Kals, Kersti Kallak, Riina Kütner, Kai Budrikas, Saskia Kuusk, Vahur Valvere, Piret Laidre, Kadri Toome, Kadri Rekker, Mikk Tooming, Ülle Murumets, Tiina Kahre, Krista Kruuv-Käo, Katrin Õunap, Peeter Padrik, Andres Metspalu, Tõnu Esko, Krista Fischer, Neeme Tõnisson

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Although hereditary breast cancer screening and management are well accepted and established in clinical settings, these efforts result in the detection of only a fraction of genetic predisposition at the population level. Here, we describe our exper

Externí odkaz: https://doaj.org/article/c00f41df49fe491cbba2b6ab1143c687

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A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

Autor: Brittany M Wenger, Bruce D. Gelb, Douglas R. Stewart, Marco Tartaglia, Julie De Backer, Ron Do, Laura Muiño-Mosquera, Nihir Patel, Madeline Lui, Arden Moscati, Amy R Kontorovich

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics

PURPOSE The purpose of this study is to use a genotype-first approach to explore highly penetrant, autosomal dominant cardiovascular diseases with external features, the RASopathies and Marfan syndrome (MFS), using biobank data. METHODS This study us

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9e9e7675752aa7fd1f75cbdfd94fbd9
https://doi.org/10.1038/s41436-020-00973-2

Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants

Autor: Peeter Padrik, Marili Palover, Neeme Tõnisson, Liis Leitsalu, Anu Reigo, Andres Metspalu, Tiit Nikopensius, Timo Tõnis Sikka, Kalle Pärn, Mart Kals, Tõnu Esko

Publikováno v: Eur J Hum Genet

Genotype-first approach allows to systematically identify carriers of pathogenic variants in BRCA1/2 genes conferring a high risk of familial breast and ovarian cancer. Participants of the Estonian biobank have expressed support for the disclosure of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0be5e25c57c743b013ce6a942b962e7b
https://pubmed.ncbi.nlm.nih.gov/33230308

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Autor: Rolph Pfundt, Bregje W.M. van Bon, Petra de Vries, Carl Baker, Marloes Steehouwer, Bradley P. Coe, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Han G. Brunner, David A. Koolen, Caroline Nava, Daniëlle G. M. Bosch, Anna Hackett, Hilde Van Esch, Fleur Vansenne, Alexander Hoischen, Christian Gilissen, Kali Witherspoon, Heather C Mefford, Martin Jakob Larsen, Janneke H M Schuurs-Hoeijmakers, Malin Kvarnung, Gemma L. Carvill, Bert B.A. de Vries, Fiona Haslam McKenzie, Maartje van de Vorst, Mirella Vinci, Jozef Gecz, Carlo Marcelis, Sandra Jansen, Marijke Bauters, Raphael Bernier, Joris A. Veltman, Corrado Romano, Evan E. Eichler, Ulla A Andersen, Hedi L Claahsen-van der Grinten, Connie T.R.M. Stumpel, Lucia Grillo, Marie Lorraine Monin, Servi J. C. Stevens

Publikováno v: European Journal of Human Genetics, 26(1), 54. Nature Publishing Group
European Journal of Human Genetics, 26(1), 54-63. Nature Publishing Group
European Journal of Human Genetics, 26, 54-63
European Journal of Human Genetics, 26, 1, pp. 54-63
Jansen, S, Hoischen, A, Coe, B P, Carvill, G L, Van Esch, H, Bosch, D G M, Andersen, U A, Baker, C, Bauters, M, Bernier, R A, van Bon, B W, Claahsen-van der Grinten, H L, Gecz, J, Gilissen, C, Grillo, L, Hackett, A, Kleefstra, T, Koolen, D, Kvarnung, M, Larsen, M J, Marcelis, C, McKenzie, F, Monin, M-L, Nava, C, Schuurs-Hoeijmakers, J H, Pfundt, R, Steehouwer, M, Stevens, S J C, Stumpel, C T, Vansenne, F, Vinci, M, van de Vorst, M, Vries, P D, Witherspoon, K, Veltman, J A, Brunner, H G, Mefford, H C, Romano, C, Vissers, L E L M, Eichler, E E & de Vries, B B A 2018, ' A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency ', European Journal of Human Genetics, vol. 26, no. 1, pp. 54–63 . https://doi.org/10.1038/s41431-017-0039-5

Genotype-first combined with reverse phenotyping has shown to be a powerful tool in human genetics, especially in the era of next generation sequencing. This combines the identification of individuals with mutations in the same gene and linking these

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40caced28f86c97b1448dfa2a27ded01
https://hdl.handle.net/2066/183753