Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome:a nationwide study

Autor: Jelsig, Anne Marie, van Overeem Hansen, Thomas, Gede, Lene Bjerring, Qvist, Niels, Christensen, Lise-Lotte, Lautrup, Charlotte Kvist, Ljungmann, Ken, Christensen, Louise Torp, Rønlund, Karina, Tørring, Pernille Mathiesen, Bertelsen, Birgitte, Sunde, Lone, Karstensen, John Gásdal

Publikováno v: Jelsig, A M, van Overeem Hansen, T, Gede, L B, Qvist, N, Christensen, L-L, Lautrup, C K, Ljungmann, K, Christensen, L T, Rønlund, K, Tørring, P M, Bertelsen, B, Sunde, L & Karstensen, J G 2023, ' Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome : a nationwide study ', Familial Cancer . https://doi.org/10.1007/s10689-023-00338-z

Juvenile polyposis syndrome (JPS) is a hereditary hamartomatous polyposis syndrome characterized by gastrointestinal juvenile polyps and increased risk of gastrointestinal cancer. Germline pathogenic variants are detected in SMAD4 or BMPR1A, however

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1266::d18d135faeee504a2ca078b71c129a2c
https://vbn.aau.dk/da/publications/5665dcfa-f796-4acf-8ca8-d7261a5dab06

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.

Autor: Jelsig, Anne Marie, van Overeem Hansen, Thomas, Gede, Lene Bjerring, Qvist, Niels, Christensen, Lise-Lotte, Lautrup, Charlotte Kvist, Ljungmann, Ken, Christensen, Louise Torp, Rønlund, Karina, Tørring, Pernille Mathiesen, Bertelsen, Birgitte, Sunde, Lone, Karstensen, John Gásdal

Publikováno v: Familial Cancer; Oct2023, Vol. 22 Issue 4, p429-436, 8p

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

Autor: O’Mahony, Denise G., Ramus, Susan J., Southey, Melissa C., Meagher, Nicola S., Hadjisavvas, Andreas, John, Esther M., Hamann, Ute, Imyanitov, Evgeny N., Andrulis, Irene L., Sharma, Priyanka, Daly, Mary B., Hake, Christopher R., Weitzel, Jeffrey N., Jakubowska, Anna, Godwin, Andrew K., Arason, Adalgeir, Bane, Anita, Simard, Jacques, Soucy, Penny, Caligo, Maria A., Mai, Phuong L., Claes, Kathleen B. M., Teixeira, Manuel R., Chung, Wendy K., Lazaro, Conxi, Hulick, Peter J., Toland, Amanda E., Pedersen, Inge Sokilde, Mourits, Marian J. E., Neuhausen, Susan L., Vega, Ana, de la Hoya, Miguel, Nevanlinna, Heli, Dhawan, Mallika, Zampiga, Valentina, Danesi, Rita, Varesco, Liliana, Gismondi, Viviana, Vellone, Valerio Gaetano, James, Paul A., Janavičius, Ramūnas, Nikitina-Zake, Liene, Nielsen, Finn Cilius, van Overeem Hansen, Thomas, Pejovic, Tanja, Borg, Ake, Rantala, Johanna, Offit, Kenneth, Montagna, Marco, Nathanson, Katherine L., Domchek, Susan M., Osorio, Ana, García, María J., Karlan, Beth Y., Lesueur, Fabienne, De Fazio, Anna, Bowtell, David, McGuffog, Lesley, Leslie, Goska, Parsons, Michael T., Dörk, Thilo, Speith, Lisa-Marie, dos Santos, Elizabeth Santana, da Costa, Alexandre André B. A., Radice, Paolo, Peterlongo, Paolo, Papi, Laura, Engel, Christoph, Hahnen, Eric, Schmutzler, Rita K., Wappenschmidt, Barbara, Easton, Douglas F., Tischkowitz, Marc, Singer, Christian F., Tan, Yen Yen, Whittemore, Alice S., Sieh, Weiva, Brenton, James D., Yannoukakos, Drakoulis, Fostira, Florentia, Konstantopoulou, Irene, Soukupova, Jana, Vocka, Michal, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Antoniou, Antonis C., Goldgar, David E., Spurdle, Amanda B., Michailidou, Kyriaki

Publikováno v: British journal of cancer, London : Springer Nature, 2023, Early Access, p. [1-12]

Background: The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4036::6e579f599c6b42c360f00424004a4049
https://repository.vu.lt/VU:ELABAPDB165226400&prefLang=en_US

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.