Browsing by Author "Mensenkamp, A.R."

Now showing items 1-50 of 64

Germline and somatic mosaicism in a family with multiple endocrine neoplasia type 1 (MEN1) syndrome
Beijers, H.; Stikkelbroeck, N.; Mensenkamp, A.R. ; Pfundt, R.P. ; Luijt, R.B. van der; Timmers, H.J.L.M. ; Hermus, A.R.M.M. ; Kempers, M.J.E.
2019, Article / Letter to editor (European Journal of Endocrinology, vol. 180, iss. 2, (2019), pp. K15-k19)
TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort
Bakhuizen, J.J.; Hogervorst, F.B.; Velthuizen, M.E.; Ruijs, M.W.; Engelen, Klaartje van; Os, T.A. van; Kets, C.M. ; Mensenkamp, A.R. ; Jong, M.M. de; Ausems, M.G.
2019, Article / Letter to editor (Familial Cancer, vol. 18, iss. 2, (2019), pp. 273-280)
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report
Spurdle, A.B.; Greville-Heygate, Stephanie; Antoniou, A.C.; Brown, Melissa; Burke, Leslie; Hoya, Miguel de la; Mensenkamp, A.R. ; Tavtigian, S.V.; Eccles, Diana M.
2019, Article / Letter to editor (Journal of Medical Genetics, vol. 56, iss. 6, (2019), pp. 347-357)
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines
Chau, Cindy; Doorn, Remco van; Poppelen, Natasha M. van; Stoep, Nienke van der; Mensenkamp, A.R. ; Sijmons, R.H.; Wevers, M.R.; Jongmans, M.C.J. ; Luyten, Gregorius P.M.; Nielsen, Maartje
2019, Article / Letter to editor (Cancers, vol. 11, iss. 8, (2019), article 1114)
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Arts, P.; Simons, A. ; AlZahrani, Mofareh S.; Yilmaz, Elanur; AlIdrissi, Eman; Aerde, K.J. van; Bleeker-Rovers, C.P. ; Deuren, M. van ; Flier, M. van der ; Gilissen, C. ; Hehir-Kwa, J.Y. ; Henriet, S.S. ; Hoppenreijs, E.P. ; MacKenzie, M.A. ; Mensenkamp, A.R. ; Nelen, M.R. ; Oever, J. ten ; Schuurs-Hoeijmakers, J.H.M. ; Simon, A. ; Vorst, M. van de; Veltman, J.A. ; Zelst-Stams, W.A.G. van; Veerdonk, F.L. van de ; Netea, M.G. ; Hoischen, A. et al. sine al.
2019, Article / Letter to editor (Genome Medicine, vol. 11, iss. 1, (2019), article 38)
The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
Moghadasi, Setareh; Meeks, Huong D.; Vreeswijk, Maaike P.G.; Janssen, Linda A.M.; Borg, A.; Ehrencrona, H.; Mensenkamp, A.R. ; Goldgar, D.E.; Garcia, E.G.
2018, Article / Letter to editor (Journal of Medical Genetics, vol. 55, iss. 1, (2018), pp. 15-20)
An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice
Ellison, G.; Ahdesmaki, Miika; Luke, Sally; Waring, Paul M.; Wallace, Andrew; Wright, Ronnie; Ligtenberg, M.J.L. ; Mensenkamp, A.R. ; Mills, John; Barrett, J.Carl
2018, Article / Letter to editor (Human Mutation, vol. 39, iss. 3, (2018), pp. 394-405)
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Rebbeck, T.R.; Friebel, T.M.; Friedman, E.; Hamann, U.; Huo, D.; Kwong, A.; Olah, E.; Olopade, O.I.; Solano, A.R.; Teo, S.H.; Thomassen, M.; Weitzel, J.N.; Chan, T.L.; Couch, F.J.; Goldgar, D.E.; Kruse, T.A.; Palmero, E.I.; Park, S.K.; Torres, D.; Rensburg, E.J. van; McGuffog, L.; Parsons, M.T.; Leslie, G.; Aalfs, C.M.; Abugattas, J.; Adlard, J.; Agata, S.; Aittomaki, K.; Andrews, L.; Andrulis, I.L.; Arason, A.; Arnold, N.; Arun, B.K.; Asseryanis, E.; Auerbach, L.; Azzollini, J.; Balmana, J.; Barile, M.; Barkardottir, R.B.; Barrowdale, D.; Benitez, J.; Berger, A.; Berger, R.; Blanco, A.M.; Blazer, K.R.; Blok, M.J.; Bonadona, V.; Bonanni, B.; Bradbury, A.R.; Brewer, C.; Buecher, B.; Buys, S.S.; Caldes, T.; Caliebe, A.; Caligo, M.A.; Campbell, I.; Caputo, S.M.; Chiquette, J.; Chung, W.K.; Claes, K.B.M.; Collee, J.M.; Cook, J. ; Davidson, R.; Hoya, M. de la; Leeneer, K. De; Pauw, A. de; Delnatte, C.; Diez, O.; Ding, Y.C.; Ditsch, N.; Domchek, S.M.; Dorfling, C.M.; Velazquez, C.; Dworniczak, B.; Eason, J.; Easton, D.F.; Eeles, R.; Ehrencrona, H.; Ejlertsen, B.; Engel, C.; Engert, S.; Evans, D.G.; Faivre, L.; Feliubadalo, L.; Ferrer, S.F.; Foretova, L.; Fowler, J.; Frost, D.; Galvao, H.C.R.; Ganz, P.A.; Garber, J.; Gauthier-Villars, M.; Gehrig, A.; Gerdes, A.M.; Gesta, P.; Giannini, G.; Giraud, S.; Glendon, G.; Godwin, A.K.; Greene, M.H.; Mensenkamp, A.R. ; Antoniou, A.C.; Nathanson, K.L. et al. sine al.
2018, Article / Letter to editor (Human Mutation, vol. 39, iss. 5, (2018), pp. 593-620)
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants
Lee, Kristy; Krempely, Kate; Roberts, Maegan E.; Anderson, Michael J.; Carneiro, Fatima; Chao, Elizabeth; Mensenkamp, A.R. ; Schrader, Kasmintan A.; Karam, Rachid
2018, Article / Letter to editor (Human Mutation, vol. 39, iss. 11, (2018), pp. 1553-1568)
Cancer Risks for PMS2-Associated Lynch Syndrome
Broeke, S.W. ten; Klift, H.M. van der; Tops, Carli M.J.; Aretz, Stefan; Bernstein, I.; Buchanan, Daniel D.; Hoogerbrugge, N. ; Mensenkamp, A.R. ; Spruijt, L. ; Nielsen, M.; Win, Aung Ko et al. sine al.
2018, Article / Letter to editor (Journal of Clinical Oncology, vol. 36, iss. 29, (2018), pp. 2961-2968)
SNP association study in PMS2-associated Lynch syndrome
Broeke, S.W. ten; Elsayed, F.A.; Pagan, Lisa; Olderode-Berends, M.J.; Garcia, E.G.; Gille, H.J.; Mensenkamp, A.R. ; Spruijt, L. ; Wezel, T. van; Nielsen, M.
2018, Article / Letter to editor (Familial Cancer, vol. 17, iss. 4, (2018), pp. 507-515)
The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?
Teixeira, N.; Hout, A.H. van der; Oosterwijk, J.C; Vos, J.R.; Devilee, P.; Engelen, Klaartje van; Mensenkamp, A.R. ; Mourits, Marian J. E.; Bock, Geertruida H. de
2018, Article / Letter to editor (European Journal of Human Genetics, vol. 26, iss. 6, (2018), pp. 848-857)
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
Diets, I.J. ; Waanders, E. ; Ligtenberg, M.J.L. ; Bladel, D.A.G. van ; Kamping, E.J. ; Hoogerbrugge, P.M. ; Hopman, S.; Olderode-Berends, M.J.; Gerkes, E.H.; Koolen, D.A. ; Marcelis, C.L. ; Santen, G.W.E.; Belzen, M.J. van; Mordaunt, D.; McGregor, L.; Thompson, E.; Kattamis, A.; Pastorczak, A.; Mlynarski, W.; Ilencikova, D.; Vulto-van Silfhout, A.T. ; Gardeitchik, T. ; Bont, E.S. de; Loeffen, J.; Wagner, A.; Mensenkamp, A.R. ; Kuiper, R.P. ; Hoogerbrugge, N. ; Jongmans, M.C. et al. sine al.
2018, Article / Letter to editor (Clinical Cancer Research, vol. 24, iss. 7, (2018), pp. 1594-1603)
Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study
Tuin, Karin van der; Mensenkamp, A.R. ; Tops, Carli M.J.; Corssmit, Eleonora P.M.; Dinjens, Winand N.; Horst-Schrivers, Anouk N. van de; Kunst, H.P.M. ; Kusters, B. ; Spruijt, L. ; Hes, Frederik J.; Timmers, H.J.L.M. et al. sine al.
2018, Article / Letter to editor (Journal of Clinical Endocrinology and Metabolism, vol. 103, iss. 2, (2018), pp. 438-445)
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity
Houlleberghs, H.; Goverde, A.; Lusseveld, J.; Dekker, M.; Bruno, M.J.; Menko, F.H.; Mensenkamp, A.R. ; Spaander, M.C.; Wagner, A.; Hofstra, R.M.W.; Riele, H. Te et al. sine al.
2017, Article / Letter to editor (Plos Genetics, vol. 13, iss. 5, (2017), article e1006765)
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Phelan, C.M.; Kuchenbaecker, K.B.; Tyrer, J.P.; Kar, S.P.; Lawrenson, K.; Winham, S.J.; Dennis, J.; Pirie, A.; Riggan, M.J.; Chornokur, G.; Earp, M.A.; Lyra, P.C., Jr.; Lee, J.M.; Coetzee, S.; Beesley, J.; McGuffog, L.; Soucy, P.; Dicks, E.; Lee, A.; Barrowdale, D.; Lecarpentier, J.; Leslie, G.; Aalfs, C.M.; Aben, K.K.H. ; Adams, M.; Adlard, J.; Andrulis, I.L.; Anton-Culver, H.; Antonenkova, N.; Aravantinos, G.; Arnold, N.; Arun, B.K.; Arver, B.; Azzollini, J.; Balmana, J.; Banerjee, S.N.; Barjhoux, L.; Barkardottir, R.B.; Bean, Y.; Beckmann, M.W.; Beeghly-Fadiel, A.; Benitez, J.; Bermisheva, M.; Bernardini, M.Q.; Birrer, M.J.; Bjorge, L.; Black, A.; Blankstein, K.; Blok, M.J.; Bodelon, C.; Bogdanova, N.; Bojesen, A.; Bonanni, B.; Borg, A.; Bradbury, A.R.; Brenton, J.D.; Brewer, C.; Brinton, L.; Broberg, P.; Brooks-Wilson, A.; Bruinsma, F.; Brunet, J.; Buecher, B.; Butzow, R.; Buys, S.S.; Caldes, T.; Caligo, M.A.; Campbell, I.; Cannioto, R.; Carney, M.E.; Cescon, T.; Chan, S.B.; Chang-Claude, J.; Chanock, S.; Chen, X.Q.; Chiew, Y.E.; Chiquette, J.; Chung, W.K.; Claes, K.B.; Conner, T.; Cook, L.S.; Cook, J.; Cramer, D.W; Cunningham, J.M.; D'Aloisio, A.A.; Daly, M.B.; Damiola, F.; Damirovna, S.D.; Dansonka-Mieszkowska, A.; Dao, F.; Davidson, R.; Defazio, A.; Delnatte, C.; Doheny, K.F.; Diez, O.; Ding, Y.C.; Doherty, J.A.; Domchek, S.M.; Dorfling, C.M.; Dork, T.; Mensenkamp, A.R. ; Kiemeney, L.A.L.M. ; Massuger, L.F.A.G. ; Altena, A.M. van ; et al. et al. sine al.
2017, Article / Letter to editor (Nature Genetics, vol. 49, iss. 5, (2017), pp. 680-691)
Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands
Dommering, C.J.; Henneman, L.; Hout, A.H. van der; Jonker, M.A.; Tops, C.M.; Ouweland, A.M. van den; Luijt, R.B. van der; Mensenkamp, A.R. ; Hogervorst, F.B.; Redeker, E.J.; Die-Smulders, C.E.M. de; Moll, A.C.; Meijers-Heijboer, H. et al. sine al.
2017, Article / Letter to editor (Familial Cancer, vol. 16, iss. 2, (2017), pp. 271-277)
BRCA Testing by Single-Molecule Molecular Inversion Probes
Neveling, K. ; Mensenkamp, A.R. ; Derks, R; Kwint, M.P.; Ouchene, H.; Steehouwer, M. ; Lier, L.A. van; Bosgoed, E.A.J.; Rikken, A.; Tychon, M.W.J.; Zafeiropoulou, D.; Castelein, S.; Hehir-Kwa, J.Y. ; Thung, G.W.; Hofste, T.; Lelieveld, S.H.; Bertens, S.M.; Adan, I.B.; Eijkelenboom, A.; Tops, B.B.J.; Yntema, H.G. ; Stokowy, T.; Knappskog, P.M.; Hoberg-Vetti, H.; Steen, V.M.; Boyle, E.; Martin, B.; Ligtenberg, M.J.L. ; Shendure, J.; Nelen, M.R. ; Hoischen, A. et al. sine al.
2017, Article / Letter to editor (Clinical Chemistry, vol. 63, iss. 2, (2017), pp. 503-512)
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
Pfundt, R.P. ; Rosario, M. del; Vissers, L.E.L.M. ; Kwint, M.P.; Janssen, I.M. ; Leeuw, N. de ; Yntema, H.G. ; Nelen, M.R. ; Lugtenberg, D. ; Kamsteeg, E.J. ; Wieskamp, N.A. ; Stegmann, A.P.; Stevens, S.J.; Rodenburg, R.J.T. ; Simons, A. ; Mensenkamp, A.R. ; Rinne, T.K. ; Gilissen, C.F. ; Scheffer, H. ; Veltman, J.A. ; Hehir-Kwa, J.Y. et al. sine al.
2017, Article / Letter to editor (Genetics in Medicine, vol. 19, iss. 6, (2017), pp. 667-675)
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
Weren, R.D.A.; Mensenkamp, A.R. ; Simons, M.; Eijkelenboom, A.; Sie, A.S.; Ouchene, H.; Asseldonk, M. van; Gomez-Garcia, E.B.; Blok, M.J.; Hullu, J.A. de ; Nelen, M.R. ; Hoischen, A. ; Bulten, J. ; Tops, B.B.J.; Hoogerbrugge, N. ; Ligtenberg, M.J.L. et al. sine al.
2017, Article / Letter to editor (Human Mutation, vol. 38, iss. 2, (2017), pp. 226-235)
High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling
Sie, A.S.; Spruijt, L. ; Zelst-Stams, W.A.G. van; Mensenkamp, A.R. ; Ligtenberg, M.J.L. ; Brunner, H.G. ; Prins, J.B. ; Hoogerbrugge, N.
2016, Article / Letter to editor (Journal of Genetic Counseling, vol. 25, iss. 3, (2016), pp. 504-514)
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome
Klift, H.M. van der; Mensenkamp, A.R. ; Drost, M.; Bik, E.C.; Vos, Y.J.; Gille, H.J.; Redeker, B.E.; Tiersma, Y.; Zonneveld, J.B.; Garcia, E.G.; Letteboer, T.G.; Olderode-Berends, M.J.; Hest, L.P. van; Os, T.A. van; Verhoef, S.; Wagner, A.; Asperen, C.J. van; Broeke, S.W. ten; Hes, F.J.; Wind, N. de; Nielsen, M.; Devilee, P.; Ligtenberg, M.J.L. ; Wijnen, J.T.; Tops, C.M. et al. sine al.
2016, Article / Letter to editor (Human Mutation, vol. 37, iss. 11, (2016), pp. 1162-1179)
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
Dunning, A.M.; Michailidou, K.; Kuchenbaecker, K.B.; Thompson, D.; French, J.D.; Beesley, J.; Healey, C.S.; Kar, S.; Pooley, K.A.; Lopez-Knowles, E.; Dicks, E.; Barrowdale, D.; Sinnott-Armstrong, N.A.; Sallari, R.C.; Hillman, K.M.; Kaufmann, S.; Sivakumaran, H.; Marjaneh, M. Moradi; Lee, J.S.; Hills, M.; Jarosz, M.; Drury, S.; Canisius, S.; Bolla, M.K.; Dennis, J.; Wang, Q.; Hopper, J.L.; Southey, M.C.; Broeks, A.; Schmidt, M.K.; Lophatananon, A.; Muir, K.; Beckmann, M.W.; Fasching, P.A.; Dos-Santos-Silva, I.; Peto, J.; Sawyer, E.J.; Tomlinson, I.; Burwinkel, B.; Marme, F.; Guenel, P.; Truong, T.; Bojesen, S.E.; Flyger, H.; Gonzalez-Neira, A.; Perez, J.I.; Anton-Culver, H.; Eunjung, L.; Arndt, V.; Brenner, H.; Meindl, A.; Schmutzler, R.K.; Brauch, H.; Hamann, U.; Aittomaki, K.; Blomqvist, C.; Ito, H.; Matsuo, K.; Bogdanova, N.; Dork, T.; Lindblom, A.; Margolin, S.; Kosma, V.M.; Mannermaa, A.; Tseng, C.C.; Wu, A.H.; Lambrechts, D.; Wildiers, H.; Chang-Claude, J.; Rudolph, A.; Peterlongo, P.; Radice, P.; Olson, J.E.; Giles, G.G.; Milne, R.L.; Haiman, C.A.; Henderson, B.E.; Goldberg, M.S.; Teo, S.H.; Yip, C.H.; Nord, S.; Borresen-Dale, A.L.; Kristensen, V.; Long, J.; Zheng, W.; Pylkas, K.; Winqvist, R.; Andrulis, I.L.; Knight, J.A.; Devilee, P.; Seynaeve, C.; Figueroa, J.; Sherman, M.E.; Czene, K.; Darabi, H.; Hollestelle, A.; Ouweland, A.M. van den; Humphreys, K.; Gao, Y.T.; Shu, X.O.; Mensenkamp, A.R. ; et al. et al. sine al.
2016, Article / Letter to editor (Nature Genetics, vol. 48, iss. 4, (2016), pp. 374-386)
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
Hollestelle, A.; Baan, F.H. van der; Berchuck, A.; Johnatty, S.E.; Aben, K.K.H. ; Agnarsson, B.A.; Aittomaki, K.; Alducci, E.; Andrulis, I.L.; Anton-Culver, H.; Antonenkova, N.N.; Antoniou, A.C.; Apicella, C.; Arndt, V.; Arnold, N.; Arun, B.K.; Arver, B.; Ashworth, A.; Baglietto, L.; Balleine, R.; Bandera, E.V.; Barrowdale, D.; Bean, Y.T.; Beckmann, L.; Beckmann, M.W.; Benitez, J.; Berger, A.; Berger, R.; Beuselinck, B.; Bisogna, M.; Bjorge, L.; Blomqvist, C.; Bogdanova, N.V.; Bojesen, A.; Bojesen, S.E.; Bolla, M.K.; Bonanni, B.; Brand, J.S.; Brauch, H.; Brenner, H.; Brinton, L.; Brooks-Wilson, A.; Bruinsma, F.; Brunet, J.; Bruning, T.; Budzilowska, A.; Bunker, C.H.; Burwinkel, B.; Butzow, R.; Buys, S.S.; Caligo, M.A.; Campbell, I.; Carter, J.; Chang-Claude, J.; Chanock, S.J.; Claes, K.B.; Collee, J.M.; Cook, L.S.; Couch, F.J.; Cox, A; Cramer, D.; Cross, S.S.; Cunningham, J.M.; Cybulski, C.; Czene, K.; Damiola, F.; Dansonka-Mieszkowska, A.; Darabi, H.; Hoya, M. de la; Defazio, A.; Dennis, J.; Devilee, P.; Dicks, E.M.; Diez, O.; Doherty, J.A.; Domchek, S.M.; Dorfling, C.M.; Dork, T.; Silva Idos, S.; Bois, A. du; Dumont, M.; Dunning, A.M.; Duran, M.; Easton, D.F.; Eccles, D.; Edwards, R.P.; Ehrencrona, H.; Ejlertsen, B.; Ekici, A.B.; Ellis, S.D.; Engel, C.; Eriksson, M.; Fasching, P.A.; Feliubadalo, L.; Figueroa, J.; Flesch-Janys, D.; Fletcher, O.; Fontaine, A.; Fortuzzi, S.; Fostira, F.; Kiemeney, L.A.L.M. ; Massuger, L.F.A.G. ; Mensenkamp, A.R. ; et al. et al. sine al.
2016, Article / Letter to editor (Gynecologic Oncology, vol. 141, iss. 2, (2016), pp. 386-401)
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility
Voer, R.M. de; Hahn, M.M.; Weren, R.D.A.; Mensenkamp, A.R. ; Gilissen, C.F. ; Zelst-Stams, W.A. van; Spruijt, L. ; Kets, C.M. ; Zhang, J.Z; Venselaar, H. ; Vreede, L.A. ; Schubert, N.; Tychon, M.W.J.; Derks, R; Schackert, H.K.; Geurts van Kessel, A.H. ; Hoogerbrugge, N. ; Ligtenberg, M.J. ; Kuiper, R.P. et al. sine al.
2016, Article / Letter to editor (Plos Genetics, vol. 12, iss. 2, (2016), pp. e1005880)
Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers
Vos, J.R.; Oosterwijk, J.C; Aalfs, C.M.; Rookus, M.A.; Adank, M.A.; Hout, A.H. van der; Asperen, C.J. van; Gomez Garcia, E.B.; Mensenkamp, A.R. ; Jager, A..; Ausems, M.G.; Mourits, M.J.; Bock, G.H. de et al. sine al.
2016, Article / Letter to editor (Cancer Epidemiology, Biomarkers & Prevention, vol. 25, iss. 8, (2016), pp. 1251-1258)
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Vigorito, E.; Kuchenbaecker, K.B.; Beesley, J.; Adlard, J.; Agnarsson, B.A.; Andrulis, I.L.; Arun, B.K.; Barjhoux, L.; Belotti, M.; Benitez, J.; Berger, A.; Bojesen, A.; Bonanni, B.; Brewer, C.; Caldes, T.; Caligo, M.A.; Campbell, I.; Chan, S.B.; Claes, K.B.; Cohn, D.E.; Cook, J.; Daly, M.B.; Damiola, F.; Davidson, R.; Pauw, A. de; Delnatte, C.; Diez, O.; Domchek, S.M.; Dumont, M.; Durda, K.; Dworniczak, B.; Easton, D.F.; Eccles, D.; Edwinsdotter Ardnor, C.; Eeles, R.; Ejlertsen, B.; Ellis, S.; Evans, D.G.; Feliubadalo, L.; Fostira, F.; Foulkes, W.D.; Friedman, E.; Frost, D.; Gaddam, P.; Ganz, P.A.; Garber, J.; Garcia-Barberan, V.; Gauthier-Villars, M.; Gehrig, A.; Gerdes, A.M.; Giraud, S.; Godwin, A.K.; Goldgar, D.E.; Hake, C.R.; Hansen, T.V.; Healey, S.; Hodgson, S.; Hogervorst, F.B.; Houdayer, C.; Hulick, P.J.; Imyanitov, E.N.; Isaacs, C.; Izatt, L.; Izquierdo, A.; Jacobs, L; Jakubowska, A.; Janavicius, R.; Jaworska-Bieniek, K.; Jensen, U.B.; John, E.M.; Vijai, J.; Karlan, B.Y.; Kast, K.; Khan, S.; Kwong, A.; Laitman, Y.; Lester, J.; Lesueur, F.; Liljegren, A.; Lubinski, J.; Mai, P.L.; Manoukian, S.; Mazoyer, S.; Meindl, A.; Mensenkamp, A.R. ; Montagna, M.; Nathanson, K.L.; Neuhausen, S.L.; Nevanlinna, H.; Niederacher, D.; Olah, E.; Olopade, O.I.; Ong, K.R.; Osorio, A.; Park, S.K.; Paulsson-Karlsson, Y.; Pedersen, I.S.; Peissel, B.; Peterlongo, P.; et al. et al. sine al.
2016, Article / Letter to editor (PLoS One, vol. 11, iss. 7, (2016), article e0158801)
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
Lawrenson, K.; Kar, S.; McCue, K.; Kuchenbaeker, K.; Michailidou, K.; Tyrer, J.; Beesley, J.; Ramus, S.J.; Li, Q.; Delgado, M.K.; Lee, J.M.; Aittomaki, K.; Andrulis, I.L.; Anton-Culver, H.; Arndt, V.; Arun, B.K.; Arver, B.; Bandera, E.V.; Barile, M.; Barkardottir, R.B.; Barrowdale, D.; Beckmann, M.W.; Benitez, J.; Berchuck, A.; Bisogna, M.; Bjorge, L.; Blomqvist, C.; Blot, W.; Bogdanova, N.; Bojesen, A.; Bojesen, S.E.; Bolla, M.K.; Bonanni, B.; Borresen-Dale, A.L.; Brauch, H.; Brennan, P.; Brenner, H.; Bruinsma, F.; Brunet, J.; Buhari, S.A.; Burwinkel, B.; Butzow, R.; Buys, S.S.; Cai, Q.; Caldes, T.; Campbell, I.; Canniotto, R.; Chang-Claude, J.; Chiquette, J.; Choi, J.Y. ; Claes, K.B.; Cook, L.S.; Cox, A; Cramer, D.W; Cross, S.S.; Cybulski, C.; Czene, K.; Daly, M.B.; Damiola, F.; Dansonka-Mieszkowska, A.; Darabi, H.; Dennis, J.; Devilee, P.; Diez, O.; Doherty, J.A.; Domchek, S.M.; Dorfling, C.M.; Dork, T.; Dumont, M.; Ehrencrona, H.; Ejlertsen, B.; Ellis, S.; Engel, C.; Lee, E.; Evans, D.G.; Fasching, P.A.; Feliubadalo, L.; Figueroa, J.; Flesch-Janys, D.; Fletcher, O.; Flyger, H.; Foretova, L.; Fostira, F.; Foulkes, W.D.; Fridley, B.L.; Friedman, E.; Frost, D.; Gambino, G.; Ganz, P.A.; Garber, J.; Garcia-Closas, M.; Gentry-Maharaj, A.; Ghoussaini, M.; Giles, G.G.; Glasspool, R.; Godwin, A.K.; Goldberg, M.S.; Goldgar, D.E.; Gonzalez-Neira, A.; Goode, E.L.; Kiemeney, B. ; Massuger, L.F.A.G. ; Mensenkamp, A.R. ; et al. et al. sine al.
2016, Article / Letter to editor (Nature Communications, vol. 7, (2016), pp. 12675)
Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval
Aissani, B.; Zhang, K.; Mensenkamp, A.R. ; Menko, F.H.; Wiener, H.W.
2015, Article / Letter to editor (Endocrine-Related Cancer, vol. 22, iss. 4, (2015), pp. 633-643)
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
Rebbeck, T.R.; Mitra, N.; Wan, F.; Sinilnikova, O.M.; Healey, S.; McGuffog, L.; Mazoyer, S.; Chenevix-Trench, G.; Easton, D.F.; Antoniou, A.C.; Nathanson, K.L.; Laitman, Y.; Kushnir, A.; Paluch-Shimon, S.; Berger, R.; Zidan, J.; Friedman, E.; Ehrencrona, H.; Stenmark-Askmalm, M.; Einbeigi, Z.; Loman, N.; Harbst, K.; Rantala, J.; Melin, B.; Huo, D.; Olopade, O.I.; Seldon, J.; Ganz, P.A.; Nussbaum, R.L.; Chan, S.B.; Odunsi, K.; Gayther, S.A.; Domchek, S.M.; Arun, B.K.; Lu, K.H.; Mitchell, G.; Karlan, B.Y.; Walsh, C.; Lester, J.; Godwin, A.K.; Pathak, H.; Ross, E.; Daly, M.B.; Whittemore, A.S.; John, E.M.; Miron, A.; Terry, M.B.; Chung, W.K.; Goldgar, D.E.; Buys, S.S.; Janavicius, R.; Tihomirova, L.; Tung, N.; Dorfling, C.M.; Rensburg, E.J. van; Steele, L.; Neuhausen, S.L.; Ding, Y.C.; Ejlertsen, B.; Gerdes, A.M.; Hansen, T.; Ramon Y Cajal, T.; Osorio, A.; Benitez, J.; Godino, J.; Tejada, M.I.; Duran, M.; Weitzel, J.N.; Bobolis, K.A.; Sand, S.R.; Fontaine, A.; Savarese, A.; Pasini, B.; Peissel, B.; Bonanni, B.; Zaffaroni, D.; Vignolo-Lutati, F.; Scuvera, G.; Giannini, G.; Bernard, L.; Genuardi, M.; Radice, P.; Dolcetti, R.; Manoukian, S.; Pensotti, V.; Gismondi, V.; Yannoukakos, D.; Fostira, F.; Garber, J.; Torres, D.; Rashid, M.U.; Hamann, U.; Peock, S.; Frost, D.; Platte, R.; Evans, D.G.; Eeles, R.; Davidson, R.; Eccles, D.; Cole, T.; Kets, M. ; Mensenkamp, A.R. ; et al. et al. sine al.
2015, Article / Letter to editor (Jama : Journal of the American Medical Association, vol. 313, iss. 13, (2015), pp. 1347-1361)
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer
Elsayed, F.A.; Kets, C.M. ; Ruano, D.; Akker, B. van den; Mensenkamp, A.R. ; Schrumpf, M.; Nielsen, M.; Wijnen, J.T.; Tops, C.M.; Ligtenberg, M.J. ; Vasen, H.F.A.; Hes, F.J.; Morreau, H.; Wezel, T. van et al. sine al.
2015, Article / Letter to editor (European Journal of Human Genetics, vol. 23, iss. 8, (2015), pp. 1080-1084)
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk
Broeke, S.W. ten; Brohet, R.M.; Tops, C.M.; Klift, H.M. van der; Velthuizen, M.E.; Bernstein, I.; Capella Munar, G.; Garcia, E.; Hoogerbrugge, N. ; Letteboer, T.G.; Menko, F.H.; Lindblom, A.; Mensenkamp, A.R. ; Moller, P.; Os, T.A. van; Rahner, N.; Redeker, B.J.; Sijmons, R.H.; Spruijt, L. ; Suerink, M.; Vos, Y.J.; Wagner, A.; Hes, F.J.; Vasen, H.F.A.; Nielsen, M.; Wijnen, J.T. et al. sine al.
2015, Article / Letter to editor (Journal of Clinical Oncology, vol. 33, iss. 4, (2015), pp. 319-325)
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
Kuchenbaecker, K.B.; Ramus, S.J.; Tyrer, J.; Lee, A.; Shen, H.C.; Beesley, J.; Lawrenson, K.; McGuffog, L.; Healey, S.; Lee, J.M.; Spindler, T.J.; Lin, Y.G.; Pejovic, T.; Bean, Y.; Li, Q.; Coetzee, S.; Hazelett, D.; Miron, A.; Southey, M.; Terry, M.B.; Goldgar, D.E.; Buys, S.S.; Janavicius, R.; Dorfling, C.M.; Rensburg, E.J. van; Neuhausen, S.L.; Ding, Y.C.; Hansen, T.V.; Jonson, L.; Gerdes, A.M.; Ejlertsen, B.; Barrowdale, D.; Dennis, J.; Benitez, J.; Osorio, A.; Garcia, M.J.; Komenaka, I.; Weitzel, J.N.; Ganschow, P.; Peterlongo, P.; Bernard, L.; Viel, A.; Bonanni, B.; Peissel, B.; Manoukian, S.; Radice, P.; Papi, L.; Ottini, L.; Fostira, F.; Konstantopoulou, I.; Garber, J.; Frost, D.; Perkins, J.; Platte, R.; Ellis, S.; Embrace, .; Godwin, A.K.; Schmutzler, R.K.; Meindl, A.; Engel, C.; Sutter, C.; Sinilnikova, O.M.; Damiola, F.; Mazoyer, S.; Stoppa-Lyonnet, D.; Claes, K.; Leeneer, K. De; Kirk, J.; Rodriguez, G.C.; Piedmonte, M.; O'Malley, D.M.; Hoya, M. de la; Caldes, T.; Aittomaki, K.; Nevanlinna, H.; Collee, J.M.; Rookus, M.A.; Oosterwijk, J.C; Tihomirova, L.; Tung, N.; Hamann, U.; Isaccs, C.; Tischkowitz, M.; Imyanitov, E.N.; Caligo, M.A.; Campbell, I.G.; Hogervorst, F.B.; Olah, E.; Diez, O.; Blanco, I.; Brunet, J.; Lazaro, C.; Pujana, M.A.; Jakubowska, A.; Gronwald, J.; Lubinski, J.; Sukiennicki, G.; Massuger, L.F.A.G. ; Altena, A.M. van ; Aben, K.K.H. ; Kiemeney, B. ; Mensenkamp, A.R. ; Kets, M. ; Hoogerbrugge, N. ; Ligtenberg, M.J.L. ; et al. et al. sine al.
2015, Article / Letter to editor (Nature Genetics, vol. 47, iss. 2, (2015), pp. 164-171)
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1
Post, R.S. van der; Vogelaar, I.P.; Manders, P. ; Kolk, L.E. van der; Cats, A.; Hest, L.P. van; Sijmons, R.; Aalfs, C.M.; Ausems, M.G.; Garcia, E.B.; Wagner, A.; Hes, F.J.; Arts, N.; Mensenkamp, A.R. ; Krieken, J.H.J.M. van ; Hoogerbrugge, N. ; Ligtenberg, M.J. et al. sine al.
2015, Article / Letter to editor (Gastroenterology, vol. 149, iss. 4, (2015), pp. 897-906.e19)
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer
Voer, R.M. de; Hahn, M.M.; Mensenkamp, A.R. ; Hoischen, A. ; Gilissen, C.F. ; Henkes, A.; Spruijt, L. ; Zelst-Stams, W.A. van; Kets, C.M. ; Verwiel, E.T.P. ; Nagtegaal, I.D. ; Schackert, H.K.; Kessel, A.G. van ; Hoogerbrugge, N. ; Ligtenberg, M.J. ; Kuiper, R.P. et al. sine al.
2015, Article / Letter to editor (Scientific Reports, vol. 5, (2015), article 14060)
Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing
Diekstra, A.; Bosgoed, E.A.J.; Rikken, A.; Lier, B. van; Kamsteeg, E.J. ; Tychon, M.W.J.; Derks, R.C.; Soest, R.A.; Mensenkamp, A.R. ; Scheffer, H. ; Neveling, K. ; Nelen, M.R. et al. sine al.
2015, Article / Letter to editor (Clinical Chemistry, vol. 61, iss. 1, (2015), pp. 154-162)
Genotype-specific differences in the tumor metabolite profile of pheochromocytoma and paraganglioma using untargeted and targeted metabolomics
Rao, J.U.; Engelke, U.F.H. ; Sweep, C.G.J. ; Pacak, K.; Kusters, B. ; Goudswaard, A.G.; Hermus, A.R.M.M. ; Mensenkamp, A.R. ; Eisenhofer, G.; Qin, N.; Richter, S; Kunst, H.P.M. ; Timmers, H.J.L.M. ; Wevers, R.A. et al. sine al.
2015, Article / Letter to editor (Journal of Clinical Endocrinology and Metabolism, vol. 100, iss. 2, (2015), pp. E214-22)
NRAS-mutated melanocytic BAP1-associated intradermal tumor (MBAIT): a case report
Blokx, W.A.M. ; Rabold, K.; Bovenschen, H.J.; Ligtenberg, M.J.L. ; Mensenkamp, A.R. ; Lijnschoten, G. van; Zelst-Stams, W.A.G. van; Groenen, P.J.T.A.
2015, Article / Letter to editor (Virchows Archiv, vol. 466, iss. 1, (2015), pp. 117-121)
Easy-to-use online referral test detects most patients with a high familial risk of colorectal cancer
Dekker, N.; Hermens, R.P.M.G. ; Mensenkamp, A.R. ; Zelst-Stams, W.A.G. van; Hoogerbrugge, N.
2014, Article / Letter to editor (Colorectal Disease, vol. 16, iss. 1, (2014), pp. O26-34)
More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling
Sie, A.S.; Zelst-Stams, W.A.G. van; Spruijt, L. ; Mensenkamp, A.R. ; Ligtenberg, M.J.L. ; Brunner, H.G. ; Prins, J.B. ; Hoogerbrugge, N.
2014, Article / Letter to editor (Familial Cancer, vol. 13, iss. 2, (2014), pp. 143-151)
Fourfold increased detection of Lynch syndrome by raising age limit for tumour genetic testing from 50 to 70 years is cost-effective
Sie, A.S.; Mensenkamp, A.R. ; Adang, E.M. ; Ligtenberg, M.J. ; Hoogerbrugge, N.
2014, Article / Letter to editor (Annals of Oncology, vol. 25, iss. 10, (2014), pp. 2001-2007)
The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype
Kwok, C.T.; Vogelaar, I.P.; Zelst-Stams, W.A.G. van; Mensenkamp, A.R. ; Ligtenberg, M.J.L. ; Rapkins, R.W.; Ward, R.L.; Chun, N.; Ford, J.M.; Ladabaum, U.; McKinnon, W.C.; Greenblatt, M.S.; Hitchins, M.P. et al. sine al.
2014, Article / Letter to editor (European Journal of Human Genetics, vol. 22, iss. 5, (2014), pp. 617-624)
[A young man with intestinal polyposis and epistaxis]
Menko, F.H.; Jacobs, M.A.; Mager, J.J.; Nicolai, J.J.; Mensenkamp, A.R. ; Aalfs, C.M.
2014, Article / Letter to editor (Nederlands Tijdschrift voor Geneeskunde, vol. 158, (2014), pp. A7398)
Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair
Wielders, E.A.; Hettinger, J.; Dekker, R.; Kets, C.M. ; Ligtenberg, M.J.L. ; Mensenkamp, A.R. ; Ouweland, A.M. van den; Prins, J.; Wagner, A.; Dinjens, W.N.; Dubbink, H.J.; Hest, L.P. van; Menko, F.; Hogervorst, F.; Verhoef, S.; Riele, H. te et al. sine al.
2014, Article / Letter to editor (Journal of Medical Genetics, vol. 51, iss. 4, (2014), pp. 245-253)
Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands
Vos, J.R.; Teixeira, N.; Kolk, D.M. van der; Mourits, M.J.E.; Rookus, M.A.; Leeuwen, F.E. van; Collee, M.; Asperen, C.J. van; Mensenkamp, A.R. ; Ausems, M.G.; Os, T.A. van; Meijers-Heijboer, H.E.; Gomez-Garcia, E.B.; Vasen, H.F.; Brohet, R.M.; Hout, A.H. van der; Jansen, L.; Oosterwijk, J.C; Bock, G.H. de et al. sine al.
2014, Article / Letter to editor (Cancer Epidemiology, Biomarkers & Prevention, vol. 23, iss. 11, (2014), pp. 2482-2491)
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Thompson, B.A.; Spurdle, A.B.; Plazzer, J.P.; Greenblatt, M.S.; Akagi, K.; Al-Mulla, F.; Bapat, B.; Bernstein, I.; Capella, G.; Dunnen, J.T. den; Sart, D. du; Fabre, A.; Farrell, M.P.; Farrington, S.M.; Frayling, I.M.; Frebourg, T.; Goldgar, D.E.; Heinen, C.D.; Holinski-Feder, E.; Kohonen-Corish, M.; Robinson, K.L.; Leung, S.Y.; Martins, A.; Moller, P.; Morak, M.; Nystrom, M.; Peltomaki, P.; Pineda, M.; Qi, M.; Ramesar, R.; Rasmussen, L.J.; Royer-Pokora, B.; Scott, R.J.; Sijmons, R.; Tavtigian, S.V.; Tops, C.M.; Weber, T.; Wijnen, J.; Woods, M.O.; Macrae, F.; Genuardi, M.; Mensenkamp, A.R. ; Ligtenberg, M.J.L. ; et al. et al. sine al.
2014, Article / Letter to editor (Nature Genetics, vol. 46, iss. 2, (2014), pp. 107-115)
Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors
Mensenkamp, A.R. ; Vogelaar, I.P.; Zelst-Stams, W.A.G. van; Goossens, M.; Ouchene, H.; Hendriks-Cornelissen, S.J.; Kwint, M.P.; Hoogerbrugge, N. ; Nagtegaal, I.D. ; Ligtenberg, M.J.L.
2014, Article / Letter to editor (Gastroenterology, vol. 146, iss. 3, (2014), pp. 643-646 e8)
Correlation Between In Vivo 18F-FDG PET and Immunohistochemical Markers of Glucose Uptake and Metabolism in Pheochromocytoma and Paraganglioma
Berkel, A van; Rao, J.U.; Kusters, B. ; Demir, T.; Visser, Eric ; Mensenkamp, A.R. ; Laak, J.A.W.M. van der ; Oosterwijk, E. ; Lenders, J.W.M. ; Sweep, C.G.J. ; Wevers, R.A. ; Hermus, A.R.M.M. ; Langenhuijsen, J.F. ; Kunst, D.P.M.; Pacak, K.; Gotthardt, M. ; Timmers, H.J.L.M. et al. sine al.
2014, Article / Letter to editor (The Journal of Nuclear Medicine (1978), vol. 55, (2014), pp. 1253-1259)
The endoplasmic Recticulum Coat Protein II Transport Machinery Coordinates Cellular Lipid Secretion and Cholestorol Biosynthesis
Fryer, L.G.; Jones, B.; Duncan, E.J.; Hutchison, C.E.; Ozkan, T.; Williams, P.A.; Alder, O.; Nieuwdorp, M.; Townley, A.K.; Mensenkamp, A.R. ; Stephens, D.J.; Dallinga-Thie, G.M.; Shoulders, C.C. et al. sine al.
2014, Article / Letter to editor (Journal of Biological Chemistry, vol. 289, iss. 7, (2014), pp. 4244-4261)
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Bojesen, S.E.; Pooley, K.A.; Johnatty, S.E.; Beesley, J.; Michailidou, K.; Tyrer, J.P.; Edwards, S.L.; Pickett, H.A.; Shen, H.C.; Smart, C.E.; Hillman, K.M.; Mai, P.L.; Lawrenson, K.; Stutz, M.D.; Lu, Y.; Karevan, R.; Woods, N.; Johnston, R.L.; French, J.D.; Chen, X.; Weischer, M.; Nielsen, S.F.; Maranian, M.J.; Ghoussaini, M.; Ahmed, S.; Baynes, C.; Bolla, M.K.; Wang, Q.; Dennis, J.; McGuffog, L.; Barrowdale, D.; Lee, A.; Healey, S.; Lush, M.; Tessier, D.C.; Vincent, D.; Bacot, F.; Vergote, I.; Lambrechts, S.; Despierre, E.; Risch, H.A.; Gonzalez-Neira, A.; Rossing, M.A.; Pita, G.; Doherty, J.A.; Alvarez, N.; Larson, M.C.; Fridley, B.L.; Schoof, N.; Chang-Claude, J.; Cicek, M.S.; Peto, J.; Kalli, K.R.; Broeks, A.; Armasu, S.M.; Schmidt, M.K.; Braaf, L.M.; Winterhoff, B.; Nevanlinna, H.; Konecny, G.E.; Lambrechts, D.; Rogmann, L.; Guenel, P.; Teoman, A.; Milne, R.L.; Garcia, J.J.; Cox, A; Shridhar, V.; Burwinkel, B.; Marme, F.; Hein, R.; Sawyer, E.J.; Haiman, C.A.; Wang-Gohrke, S.; Andrulis, I.L.; Moysich, K.B.; Hopper, J.L.; Odunsi, K.; Lindblom, A.; Giles, G.G.; Brenner, H.; Simard, J.; Lurie, G.; Fasching, P.A.; Carney, M.E.; Radice, P.; Wilkens, L.R.; Swerdlow, A.; Goodman, M.T.; Kiemeney, L.A.L.M. ; Aben, K.K.H. ; Altena, A.M. van ; Massuger, L.F.A.G. ; Mensenkamp, A.R. ; et al. et al. sine al.
2013, Article / Letter to editor (Nature Genetics, vol. 45, iss. 4, (2013), pp. 371-384)

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