Search Results - "van Os, T A"

Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: revisiting the evidence for risk reduction by Heemskerk-Gerritsen, B A M, Seynaeve, C, van Asperen, C J, Ausems, M G E M, Collée, J M, van Doorn, H C, Gomez Garcia, E B, Kets, C M, van Leeuwen, F E, Meijers-Heijboer, H E J, Mourits, M J E, van Os, T A M, Vasen, H F A, Verhoef, S, Rookus, M A, Hooning, M J

“…Previous studies have reported a breast cancer (BC) risk reduction of approximately 50% after risk-reducing salpingo-oophorectomy (RRSO) in BRCA1/2 mutation…”
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Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas by Christiaans, I, Kenter, S B, Brink, H C, van Os, T A M, Baas, F, van den Munckhof, P, Kidd, A M J, Hulsebos, T J M

“…Multiple meningiomas occur in <10% of meningioma patients. Their development may be caused by the presence of a predisposing germline mutation in the…”
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Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families by Houweling, A C, Gijezen, L M, Jonker, M A, van Doorn, M B A, Oldenburg, R A, van Spaendonck-Zwarts, K Y, Leter, E M, van Os, T A, van Grieken, N C T, Jaspars, E H, de Jong, M M, Bongers, E M H F, Johannesma, P C, Postmus, P E, van Moorselaar, R J A, van Waesberghe, J-Htm, Starink, T M, van Steensel, M A M, Gille, J J P, Menko, F H

“…Background: Birt–Hogg–Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas,…”
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Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome by Boparai, K S, Reitsma, J B, Lemmens, V, van Os, T A M, Mathus-Vliegen, E M H, Koornstra, J J, Nagengast, F M, van Hest, L P, Keller, J J, Dekker, E

“…Hyperplastic polyposis syndrome (HPS) is characterised by the presence of multiple colorectal hyperplastic polyps and is associated with an increased…”
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Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits by Lammens, C. R. M., Bleiker, E. M. A., Aaronson, N. K., Wagner, A., Sijmons, R. H., Ausems, M. G. E. M., Vriends, A. H. J. T., Ruijs, M. W. G., van Os, T. A. M., Spruijt, L., Gómez García, E. B., Cats, A., Nagtegaal, T., Verhoef, S.

“…Li Fraumeni Syndrome (LFS) is a hereditary cancer syndrome characterized by a high risk of developing various types of cancer from birth through late…”
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TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort by Bakhuizen, J. J., Hogervorst, F. B., Velthuizen, M. E., Ruijs, M. W., van Engelen, K., van Os, T. A., Gille, J. J., Collée, M., van den Ouweland, A. M., van Asperen, C. J., Kets, C. M., Mensenkamp, A. R., Leter, E. M., Blok, M. J., de Jong, M. M., Ausems, M. G.

“…Early-onset breast cancer may be due to Li–Fraumeni Syndrome (LFS). Current national and international guidelines recommend that TP53 genetic testing should be…”
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Performance of BRCA1/2 mutation prediction models in male breast cancer patients by Moghadasi, S., Grundeken, V., Janssen, L.A.M., Dijkstra, N.H., Rodríguez‐Girondo, M., van Zelst‐Stams, W.A.G., Oosterwijk, J.C., Ausems, M.G.E.M., Oldenburg, R.A., Adank, M.A., Blom, E.W., Ruijs, M.W.G., van Os, T.A.M., van Deurzen, C.H.M., Martens, J.W.M., Schroder, C.P., Wijnen, J.T., Vreeswijk, M.P.G., van Asperen, C.J.

“…To establish whether existing mutation prediction models can identify which male breast cancer (MBC) patients should be offered BRCA1 and BRCA2 diagnostic DNA…”
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Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes by Lammens, C. R. M., Bleiker, E. M. A., Verhoef, S., Ausems, M. G. E. M., Majoor-Krakauer, D., Sijmons, R. H., Hes, F. J., Gómez-García, E. B., Van Os, T. A. M., Spruijt, L., van der Luijt, R. B., van den Ouweland, A. M. W., Ruijs, M. W. G., Gundy, C., Nagtegaal, T., Aaronson, N. K.

“…Objective: Li Fraumeni syndrome (LFS) and Von Hippel‐Lindau disease (VHL) are two rare hereditary tumor syndromes, characterized by a high risk of developing…”
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Germline BRCA -Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity by de Jonge, Marthe M, Ritterhouse, Lauren L, de Kroon, Cornelis D, Vreeswijk, Maaike P G, Segal, Jeremy P, Puranik, Rutika, Hollema, Harry, Rookus, Matti A, van Asperen, Christi J, van Leeuwen, Flora E, Smit, Vincent T H B M, Howitt, Brooke E, Bosse, Tjalling

“…Whether endometrial carcinoma (EC) should be considered part of the associated hereditary breast and ovarian cancer (HBOC) syndrome is topic of debate. We…”
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Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus by Li, Qiyuan, Andrulis, Irene L., Arndt, Volker, Arver, Brita, Bandera, Elisa V., Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Benitez, Javier, Bisogna, Maria, Bogdanova, Natalia, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Bruinsma, Fiona, Buhari, Shaik Ahmad, Burwinkel, Barbara, Campbell, Ian, Chang-Claude, Jenny, Chiquette, Jocelyne, Choi, Ji-Yeob, Czene, Kamila, Diez, Orland, Doherty, Jennifer A., Domchek, Susan M., Dörk, Thilo, Dumont, Martine, Figueroa, Jonine, Flyger, Henrik, Fostira, Florentia, Foulkes, William D., Friedman, Eitan, Frost, Debra, Gambino, Gaetana, Ganz, Patricia A., Garber, Judy, Gentry-Maharaj, Aleksandra, Ghoussaini, Maya, Giles, Graham G., Glasspool, Rosalind, Goldgar, David E., González-Neira, Anna, Goodman, Marc T., Guénel, Pascal, Haiman, Christopher A., Hallberg, Emily, Hartman, Mikael, Healey, Sue, Heitz, Florian, Høgdall, Estrid, Hogervorst, Frans B. L., Huzarski, Tomasz, Imyanitov, Evgeny N., John, Esther M., Kapuscinski, Miroslav, Karlan, Beth Y., Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli-Matti, Kupryjanczyk, Jolanta, de la Hoya, Miguel, Lambrechts, Diether, De Leeneer, Kim, Li, Jingmei, Lubinski, Jan, Margolin, Sara, McGuffog, Lesley, McNeish, Iain, Meindl, Alfons, Mulligan, Anna Marie, Ness, Roberta B., Neuhausen, Susan L., Odunsi, Kunle, Olah, Edith, Orr, Nick, Osorio, Ana, Park, Sue Kyung, Poole, Elizabeth M., Rantala, Johanna, Risch, Harvey A., Sangrajrang, Suleeporn, Schildkraut, Joellen M., Schmidt, Marjanka K., Shu, Xiao-Ou, Sieh, Weiva, Singer, Christian F., Sinilnikova, Olga M., Slager, Susan, Southey, Melissa C., Stenmark-Askmalm, Marie, Tihomirova, Laima, Tung, Nadine, van Doorn, Helena C., Van't Veer, Laura J., Wentzensen, Nicolas, Wildiers, Hans, Zheng, Wei, Simard, Jacques, Pharoah, Paul D., Chenevix-Trench, Georgia

“…A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases,…”
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Psychosocial impact of Von Hippel-Lindau disease: levels and sources of distress by Lammens, CRM, Bleiker, EMA, Verhoef, S, Hes, FJ, Ausems, MGEM, Majoor-Krakauer, D, Sijmons, RH, Van Der Luijt, RB, Van Den Ouweland, AMW, Van Os, Tam, Hoogerbrugge, N, Gómez García, EB, Dommering, CJ, Gundy, CM, Aaronson, NK

“…Lammens CRM, Bleiker EMA, Verhoef S, Hes FJ, Ausems MGEM, Majoor‐Krakauer D, Sijmons RH, Luijt van der RB, Ouweland van den AMW, Van Os Tam, Hoogerbrugge N,…”
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The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect by Ten Broeke, Sanne W, Rodríguez-Girondo, Mar, Suerink, Manon, Aretz, Stefan, Bernstein, Inge, Capellá, Gabriel, Engel, Christoph, Gomez-Garcia, Encarna B, van Hest, Liselot P, von Knebel Doeberitz, Magnus, Lagerstedt-Robinson, Kristina, Letteboer, Tom G W, Moller, Pal, van Os, Theo A, Pineda, Marta, Rahner, Nils, Olderode-Berends, Maran J W, von Salomé, Jenny, Schackert, Hans K, Spruijt, Liesbeth, Steinke-Lange, Verena, Wagner, Anja, Tops, Carli M J, Nielsen, Maartje

“…PMS2-associated Lynch syndrome is characterized by a relatively low colorectal cancer penetrance compared with other Lynch syndromes. However, age at…”
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The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers by Sinilnikova, O M, Antoniou, A C, Simard, J, Healey, S, Léoné, M, Sinnett, D, Spurdle, A B, Beesley, J, Chen, X, Greene, M H, Loud, J T, Lejbkowicz, F, Rennert, G, Dishon, S, Andrulis, I L, Domchek, S M, Nathanson, K L, Manoukian, S, Radice, P, Konstantopoulou, I, Blanco, I, Laborde, A L, Durán, M, Osorio, A, Benitez, J, Hamann, U, Hogervorst, F B L, van Os, T A M, Gille, H J P, Peock, S, Cook, M, Luccarini, C, Evans, D G, Lalloo, F, Eeles, R, Pichert, G, Davidson, R, Cole, T, Cook, J, Paterson, J, Brewer, C, Hughes, D J, Coupier, I, Giraud, S, Coulet, F, Colas, C, Soubrier, F, Rouleau, E, Bièche, I, Lidereau, R, Demange, L, Nogues, C, Lynch, H T, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Sutter, C, Deissler, H, Schaefer, D, Froster, U G, Aittomäki, K, Nevanlinna, H, McGuffog, L, Easton, D F, Chenevix-Trench, G, Stoppa-Lyonnet, D

“…Background: The TP53 pathway, in which TP53 and its negative regulator MDM2 are the central elements, has an important role in carcinogenesis, particularly in…”
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The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers by Suerink, Manon, van der Klift, Heleen M., ten Broeke, Sanne W., Dekkers, Olaf M., Bernstein, Inge, Capellá Munar, Gabriel, Gomez Garcia, Encarna, Hoogerbrugge, Nicoline, Letteboer, Tom G.W., Menko, Fred H., Lindblom, Annika, Mensenkamp, Arjen, Moller, Pal, van Os, Theo A., Rahner, Nils, Redeker, Bert J.W., Olderode, Maran, Spruijt, Liesbeth, Vos, Yvonne J., Wagner, Anja, Morreau, Hans, Hes, Frederik J., Vasen, Hans F.A., Tops, Carli M., Wijnen, Juul T., Nielsen, Maartje

“…Lynch syndrome (LS), a heritable disorder with an increased risk of primarily colorectal cancer (CRC) and endometrial cancer (EC), can be caused by mutations…”
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Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers by ENGEL, Christoph, VERSMOLD, Beatrix, GARETH EVANS, D, EELES, Rosalind, PATERSON, Joan, BREWER, Carole, MCGUFFOG, Lesley, ANTONIOU, Antonis C, STOPPA-LYONNET, Dominique, SINILNIKOVA, Olga M, BARJHOUX, Laure, FRENAY, Marc, WAPPENSCHMIDT, Barbara, MICHEL, Cécile, LEROUX, Dominique, DREYFUS, Helene, TOULAS, Christine, GLADIEFF, Laurence, UHRHAMMER, Nancy, BIGNON, Yves-Jean, MEINDL, Alfons, ARNOLD, Norbert, VARON-MATEEVA, Raymonda, SIMARD, Jacques, NIEDERACHER, Dieter, PREISLER-ADAMS, Sabine, KAST, Karin, DEISSLER, Helmut, SUTTER, Christian, GADZICKI, Dorothea, CHENEVIX-TRENCH, Georgia, SPURDLE, Amanda B, XIAOQING CHEN, BEESLEY, Jonathan, EASTON, Douglas F, OLSSON, Håkan, KRISTOFFERSSON, Ulf, EHRENCRONA, Hans, LILJEGREN, Annelie, VAN DER LUIJT, Rob B, VAN OS, Theo A, VAN LEEUWEN, Flora E, DOMCHEK, Susan M, REBBECK, Timothy R, NATHANSON, Katherine L, PEOCK, Susan, OSORIO, Ana, RAMON Y CAJAL, Teresa, KONSTANTOPOULOU, Irene, BENITEZ, Javier, FRIEDMAN, Eitan, KAUFMAN, Bella, LAITMAN, Yael, MAI, Phuong L, GREENE, Mark H, NEVANLINNA, Heli, COOK, Margaret, OLIVER, Clare, FROST, Debra, MAYES, Rebecca

“…The genes caspase-8 (CASP8) and caspase-10 (CASP10) functionally cooperate and play a key role in the initiation of apoptosis. Suppression of apoptosis is one…”
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Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF) by Henneman, L., Bramsen, I., Van Os, Th. A. M., Reuling, I. E. W., Heyerman, H. G. M., van der Laag, J., van der Ploeg, H. M., ten Kate, L. P.

“…Assessing the reproductive choices of parents of children with cystic fibrosis (CF) is important in getting a greater insight into the possible needs for…”
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Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers by SPURDLE, Amanda B, MARQUART, Louise, GSCHWANTLER-KAULICH, Daphne, BLUM, Joanne L, TUNG, Nadine, WEITZEL, Jeff, LYNCH, Henry, GARBER, Judy, EASTON, Douglas F, PEOCK, Susan, COOK, Margaret, OLIVER, Clare T, MCGUFFOG, Lesley, FROST, Debra, CONROY, Don, GARETH EVANS, D, LALLOO, Fiona, EELES, Ros, IZATT, Louise, DAVIDSON, Rosemarie, CHU, Carol, ECCLES, Diana, SELKIRK, Christina G, HEALEY, Sue, DALY, Mary, ISAACS, Claudine, STOPPA-LYONNET, Dominique, SINILNIKOVA, Olga M, BUECHER, Bruno, BELOTTI, Muriel, MAZOYER, Sylvie, BARJHOUX, Laure, VERNY-PIERRE, Carole, LASSET, Christine, SINILNIKOVA, Olga, DREYFUS, Hélène, PUJOL, Pascal, COLLONGE-RAME, Marie-Agnès, ROOKUS, Matti A, VERHOEF, Senno, KRIEGE, Mieke, HOOGERBRUGGE, Nicoline, AUSEMS, Margreet G. E. M, VAN OS, Theo A, WIJNEN, Juul, FEI WAN, DEVILEE, Peter, MEIJERS-HEIJBOER, Hanne E. J, BLOK, Marinus J, HEIKKINEN, Tuomas, NEVANLINNA, Heli, JAKUBOWSKA, Anna, LUBINSKI, Jan, HUZARSKI, Tomasz, BYRSKI, Tomasz, DUROCHER, Francine, XIAOQING CHEN, BEESLEY, Jonathan, SINGER, Christian F, DRESSLER, Anne-Catharine

“…Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in…”
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Efficacy of cascade testing for fragile X syndrome by Wildhagen, M F, van Os, T A, Polder, J J, ten Kate, L P, Habbema, J D

“…Fragile X syndrome is the most common cause of mental retardation from a single gene defect, transmitted in an X-linked semidominant fashion. Cloning of the…”
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精神病的跨诊断维度：对精神疾病的分类学与研究的意义 by Jim VAN OS

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