Browsing by Author "Mensenkamp, A.R."

Now showing items 1-50 of 63

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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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), pp. 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)
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)
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)
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)
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)
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)
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)
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), pp. 14060)
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)
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)
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)
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)
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)
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)
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)
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes
Bot, S.T. de ; Veldink, J.H.; Vermeer, S. ; Mensenkamp, A.R. ; Brugman, F.; Scheffer, H. ; Berg, L.H. van den; Kremer, H.P.H. ; Kamsteeg, E.J. ; Warrenburg, B.P.C. van de
2013, Article / Letter to editor (Journal of Neurology, vol. 260, iss. 3, (2013), pp. 869-875)
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
Neveling, K. ; Feenstra, I. ; Gilissen, C.; Hoefsloot, L.H. ; Kamsteeg, E.J. ; Mensenkamp, A.R. ; Rodenburg, R.J.T. ; Yntema, H.G. ; Spruijt, L. ; Vermeer, S. ; Rinne, T.; Gassen, K.L.I. van ; Bodmer, D. ; Lugtenberg, D. ; Reuver, R. de; Buijsman, W.; Derks, R.C.; Wieskamp, N.; Heuvel, B. van den ; Ligtenberg, M.J.L. ; Kremer, H. ; Koolen, D.A. ; Warrenburg, B.P.C. van de ; Cremers, F.P.M. ; Marcelis, C.L.M. ; Smeitink, J.A.M. ; Wortmann, S.B.; Zelst-Stams, W.A.G. van; Veltman, J.A. ; Brunner, H.G. ; Scheffer, H. ; Nelen, M.R. et al. sine al.
2013, Article / Letter to editor (Human Mutation, vol. 34, iss. 12, (2013), pp. 1721-1726)

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