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Items: 1 to 50 of 140

1.

Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.

Chau C, van Doorn R, van Poppelen NM, van der Stoep N, Mensenkamp AR, Sijmons RH, van Paassen BW, van den Ouweland AMW, Naus NC, van der Hout AH, Potjer TP, Bleeker FE, Wevers MR, van Hest LP, Jongmans MCJ, Marinkovic M, Bleeker JC, Jager MJ, Luyten GPM, Nielsen M.

Cancers (Basel). 2019 Aug 4;11(8). pii: E1114. doi: 10.3390/cancers11081114.

2.

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P.

Genet Med. 2020 Jan;22(1):15-25. doi: 10.1038/s41436-019-0596-9. Epub 2019 Jul 24.

PMID:
31337882
3.

Comprehensive Profiling of Primary and Metastatic ccRCC Reveals a High Homology of the Metastases to a Subregion of the Primary Tumour.

Ferronika P, Hof J, Kats-Ugurlu G, Sijmons RH, Terpstra MM, de Lange K, Leliveld-Kors A, Westers H, Kok K.

Cancers (Basel). 2019 Jun 12;11(6). pii: E812. doi: 10.3390/cancers11060812.

4.

Systematic Review of the Prognostic Role of the Immune System After Surgery of Colorectal Liver Metastases.

Hof J, Kok K, Sijmons RH, de Jong KP.

Front Oncol. 2019 Mar 19;9:148. doi: 10.3389/fonc.2019.00148. eCollection 2019.

5.

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP.

Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011.

6.

NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.

Johansson LF, de Weerd HA, de Boer EN, van Dijk F, Te Meerman GJ, Sijmons RH, Sikkema-Raddatz B, Swertz MA.

BMC Bioinformatics. 2018 Dec 17;19(1):531. doi: 10.1186/s12859-018-2557-8.

7.

A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.

Drost M, Tiersma Y, Thompson BA, Frederiksen JH, Keijzers G, Glubb D, Kathe S, Osinga J, Westers H, Pappas L, Boucher KM, Molenkamp S, Zonneveld JB, van Asperen CJ, Goldgar DE, Wallace SS, Sijmons RH, Spurdle AB, Rasmussen LJ, Greenblatt MS, de Wind N, Tavtigian SV.

Genet Med. 2019 Jul;21(7):1486-1496. doi: 10.1038/s41436-018-0372-2. Epub 2018 Dec 3.

PMID:
30504929
8.

Characteristics of Lynch syndrome associated ovarian cancer.

Woolderink JM, De Bock GH, de Hullu JA, Hollema H, Zweemer RP, Slangen BFM, Gaarenstroom KN, van Beurden M, van Doorn HC, Sijmons RH, Vasen HFA, Mourits MJE.

Gynecol Oncol. 2018 Aug;150(2):324-330. doi: 10.1016/j.ygyno.2018.03.060. Epub 2018 Jun 5.

PMID:
29880284
9.

Genetic Screening Test to Detect Translocations in Acute Leukemias by Use of Targeted Locus Amplification.

Alimohamed MZ, Johansson LF, de Boer EN, Splinter E, Klous P, Yilmaz M, Bosga A, van Min M, Mulder AB, Vellenga E, Sinke RJ, Sijmons RH, van den Berg E, Sikkema-Raddatz B.

Clin Chem. 2018 Jul;64(7):1096-1103. doi: 10.1373/clinchem.2017.286047. Epub 2018 May 24.

PMID:
29794109
10.

How to support cancer genetics counselees in informing at-risk relatives? Lessons from a randomized controlled trial.

Eijzenga W, de Geus E, Aalfs CM, Menko FH, Sijmons RH, de Haes HCJM, Smets EMA.

Patient Educ Couns. 2018 Sep;101(9):1611-1619. doi: 10.1016/j.pec.2018.05.009. Epub 2018 May 8.

PMID:
29789176
11.

Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co-occurring FANCC and CHEK2 mutations.

Berger G, van den Berg E, Smetsers S, Leegte BK, Sijmons RH, Abbott KM, Mulder AB, Vellenga E.

Br J Haematol. 2019 Mar;184(6):1071-1073. doi: 10.1111/bjh.15265. Epub 2018 May 16. No abstract available.

PMID:
29767408
12.

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

Schubert SA, Ruano D, Elsayed FA, Boot A, Crobach S, Sarasqueta AF, Wolffenbuttel B, van der Klauw MM, Oosting J, Tops CM, van Eijk R, Vasen HF, Vossen RH, Nielsen M, Castellví-Bel S, Ruiz-Ponte C, Tomlinson I, Dunlop MG, Vodicka P, Wijnen JT, Hes FJ, Morreau H, de Miranda NF, Sijmons RH, van Wezel T.

Br J Cancer. 2018 Jan;118(2):e4. doi: 10.1038/bjc.2017.380. Epub 2017 Oct 12. No abstract available.

13.

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.

Weren RDA, van der Post RS, Vogelaar IP, van Krieken JH, Spruijt L, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Oliveira C, Kamping EJ, Schackert HK, Ranzani GN, Gómez García EB, Hes FJ, Holinski-Feder E, Genuardi M, Ausems MGEM, Sijmons RH, Wagner A, van der Kolk LE, Cats A, Bjørnevoll I, Hoogerbrugge N, Ligtenberg MJL.

J Med Genet. 2018 Oct;55(10):669-674. doi: 10.1136/jmedgenet-2017-104962. Epub 2018 Jan 12.

14.

DNA and RNA analysis of intratumour heterogeneity in metastatic clear cell renal cell carcinoma.

Ferronika P, Hof J, Kats-Ugurlu G, Terpstra M, De Lange K, Leliveld-Kors A, Sijmons RH, Kok K.

Ann Oncol. 2017 Oct;28 Suppl 7:vii31. doi: 10.1093/annonc/mdx510.001. No abstract available.

15.

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

Vogelaar IP, van der Post RS, van Krieken JHJ, Spruijt L, van Zelst-Stams WA, Kets CM, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Pinheiro H, Oliveira C, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, de Ligt J, Vissers LELM, Hoischen A, Gilissen C, van de Vorst M, Goeman JJ, Schackert HK, Ranzani GN, Molinaro V, Gómez García EB, Hes FJ, Holinski-Feder E, Genuardi M, Ausems MGEM, Sijmons RH, Wagner A, van der Kolk LE, Bjørnevoll I, Høberg-Vetti H, van Kessel AG, Kuiper RP, Ligtenberg MJL, Hoogerbrugge N.

Eur J Hum Genet. 2017 Nov;25(11):1246-1252. doi: 10.1038/ejhg.2017.138. Epub 2017 Sep 6.

16.

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.

Møller P, Seppälä TT, Bernstein I, Holinski-Feder E, Sala P, Gareth Evans D, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen JT, Jenkins MA, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Valentin MD, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Moeslein G, Sampson JR, Capella G; Mallorca Group.

Gut. 2018 Jul;67(7):1306-1316. doi: 10.1136/gutjnl-2017-314057. Epub 2017 Jul 28.

17.

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

Schubert SA, Ruano D, Elsayed FA, Boot A, Crobach S, Sarasqueta AF, Wolffenbuttel B, van der Klauw MM, Oosting J, Tops CM, van Eijk R, Vasen HF, Vossen RH, Nielsen M, Castellví-Bel S, Ruiz-Ponte C, Tomlinson I, Dunlop MG, Vodicka P, Wijnen JT, Hes FJ, Morreau H, de Miranda NF, Sijmons RH, van Wezel T.

Br J Cancer. 2017 Sep 5;117(6):1215-1223. doi: 10.1038/bjc.2017.240. Epub 2017 Jul 25. Erratum in: Br J Cancer. 2018 Jan;118(2):e4.

18.

Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing.

Johansson LF, de Boer EN, de Weerd HA, van Dijk F, Elferink MG, Schuring-Blom GH, Suijkerbuijk RF, Sinke RJ, Te Meerman GJ, Sijmons RH, Swertz MA, Sikkema-Raddatz B.

Sci Rep. 2017 May 12;7(1):1838. doi: 10.1038/s41598-017-02031-5.

19.

Reusability of coded data in the primary care electronic medical record: A dynamic cohort study concerning cancer diagnoses.

Sollie A, Sijmons RH, Helsper C, Numans ME.

Int J Med Inform. 2017 Mar;99:45-52. doi: 10.1016/j.ijmedinf.2016.08.004. Epub 2016 Aug 28.

PMID:
28118921
20.

GAVIN: Gene-Aware Variant INterpretation for medical sequencing.

van der Velde KJ, de Boer EN, van Diemen CC, Sikkema-Raddatz B, Abbott KM, Knopperts A, Franke L, Sijmons RH, de Koning TJ, Wijmenga C, Sinke RJ, Swertz MA.

Genome Biol. 2017 Jan 16;18(1):6. doi: 10.1186/s13059-016-1141-7.

21.

Prevalence and Progression of Pancreatic Cystic Precursor Lesions Differ Between Groups at High Risk of Developing Pancreatic Cancer.

Konings IC, Harinck F, Poley JW, Aalfs CM, van Rens A, Krak NC, Wagner A, Nio CY, Sijmons RH, van Dullemen HM, Vleggaar FP, Ausems MG, Fockens P, van Hooft JE, Bruno MJ; Dutch Research Group on Pancreatic Cancer Surveillance in High-Risk Individuals.

Pancreas. 2017 Jan;46(1):28-34.

PMID:
27846136
22.

Do GPs know their patients with cancer? Assessing the quality of cancer registration in Dutch primary care: a cross-sectional validation study.

Sollie A, Roskam J, Sijmons RH, Numans ME, Helsper CW.

BMJ Open. 2016 Sep 15;6(9):e012669. doi: 10.1136/bmjopen-2016-012669.

23.

Functional Studies on Primary Tubular Epithelial Cells Indicate a Tumor Suppressor Role of SETD2 in Clear Cell Renal Cell Carcinoma.

Li J, Kluiver J, Osinga J, Westers H, van Werkhoven MB, Seelen MA, Sijmons RH, van den Berg A, Kok K.

Neoplasia. 2016 Jun;18(6):339-46. doi: 10.1016/j.neo.2016.04.005. Epub 2016 May 26.

24.

Design and Feasibility of an Intervention to Support Cancer Genetic Counselees in Informing their At-Risk Relatives.

de Geus E, Eijzenga W, Menko FH, Sijmons RH, de Haes HC, Aalfs CM, Smets EM.

J Genet Couns. 2016 Dec;25(6):1179-1187. Epub 2016 Apr 22.

25.

Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.

Ghorbanoghli Z, Nieuwenhuis MH, Houwing-Duistermaat JJ, Jagmohan-Changur S, Hes FJ, Tops CM, Wagner A, Aalfs CM, Verhoef S, Gómez García EB, Sijmons RH, Menko FH, Letteboer TG, Hoogerbrugge N, van Wezel T, Vasen HF, Wijnen JT.

Fam Cancer. 2016 Oct;15(4):563-70. doi: 10.1007/s10689-016-9877-5.

26.

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.

Johansson LF, van Dijk F, de Boer EN, van Dijk-Bos KK, Jongbloed JD, van der Hout AH, Westers H, Sinke RJ, Swertz MA, Sijmons RH, Sikkema-Raddatz B.

Hum Mutat. 2016 May;37(5):457-64. doi: 10.1002/humu.22969. Epub 2016 Feb 24.

PMID:
26864275
27.

Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations.

Sijmons RH, Hofstra RMW.

DNA Repair (Amst). 2016 Feb;38:155-162. doi: 10.1016/j.dnarep.2015.11.018. Epub 2015 Dec 11. Review.

PMID:
26746812
28.

A multicentre comparative prospective blinded analysis of EUS and MRI for screening of pancreatic cancer in high-risk individuals.

Harinck F, Konings IC, Kluijt I, Poley JW, van Hooft JE, van Dullemen HM, Nio CY, Krak NC, Hermans JJ, Aalfs CM, Wagner A, Sijmons RH, Biermann K, van Eijck CH, Gouma DJ, Dijkgraaf MG, Fockens P, Bruno MJ; Dutch research group on pancreatic cancer surveillance in high-risk individuals.

Gut. 2016 Sep;65(9):1505-13. doi: 10.1136/gutjnl-2014-308008. Epub 2015 May 18.

PMID:
25986944
29.

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.

van der Velde KJ, Kuiper J, Thompson BA, Plazzer JP, van Valkenhoef G, de Haan M, Jongbloed JD, Wijmenga C, de Koning TJ, Abbott KM, Sinke R, Spurdle AB, Macrae F, Genuardi M, Sijmons RH, Swertz MA; InSiGHT Group.

Hum Mutat. 2015 Jul;36(7):712-9. doi: 10.1002/humu.22798. Epub 2015 May 20.

30.

Development of the Informing Relatives Inventory (IRI): Assessing Index Patients' Knowledge, Motivation and Self-Efficacy Regarding the Disclosure of Hereditary Cancer Risk Information to Relatives.

de Geus E, Aalfs CM, Menko FH, Sijmons RH, Verdam MG, de Haes HC, Smets EM.

Int J Behav Med. 2015 Aug;22(4):551-60. doi: 10.1007/s12529-014-9455-x.

PMID:
25515913
31.

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

ten Broeke SW, Brohet RM, Tops CM, van der Klift HM, Velthuizen ME, Bernstein I, Capellá Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp AR, Moller P, van Os TA, Rahner N, Redeker BJ, Sijmons RH, Spruijt L, Suerink M, Vos YJ, Wagner A, Hes FJ, Vasen HF, Nielsen M, Wijnen JT.

J Clin Oncol. 2015 Feb 1;33(4):319-25. doi: 10.1200/JCO.2014.57.8088. Epub 2014 Dec 15.

PMID:
25512458
32.

Charles Buys (1942-2014).

Sijmons RH, te Meerman GJ, Hofstra RM.

Eur J Hum Genet. 2014 Dec;22(12):1343-4. doi: 10.1038/ejhg.2014.207. No abstract available.

33.

New target genes in endometrial tumors show a role for the estrogen-receptor pathway in microsatellite-unstable cancers.

Ferreira AM, Tuominen I, Sousa S, Gerbens F, van Dijk-Bos K, Osinga J, Kooi KA, Sanjabi B, Esendam C, Oliveira C, Terpstra P, Hardonk M, van der Sluis T, Zazula M, Stachura J, van der Zee AG, Hollema H, Sijmons RH, Aaltonen LA, Seruca R, Hofstra RM, Westers H.

Hum Mutat. 2014 Dec;35(12):1514-23. doi: 10.1002/humu.22700.

PMID:
25231886
34.

High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors.

Ferreira AM, Tuominen I, van Dijk-Bos K, Sanjabi B, van der Sluis T, van der Zee AG, Hollema H, Zazula M, Sijmons RH, Aaltonen LA, Westers H, Hofstra RM.

Hum Mutat. 2014 Dec;35(12):1442-5. doi: 10.1002/humu.22686.

PMID:
25196364
35.

Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis.

Hes FJ, Ruano D, Nieuwenhuis M, Tops CM, Schrumpf M, Nielsen M, Huijts PE, Wijnen JT, Wagner A, Gómez García EB, Sijmons RH, Menko FH, Letteboer TG, Hoogerbrugge N, Harryvan J, Kampman E, Morreau H, Vasen HF, van Wezel T.

J Med Genet. 2014 Jan;51(1):55-60. doi: 10.1136/jmedgenet-2013-102000. Epub 2013 Nov 19.

36.

The additional value of endometrial sampling in the early detection of endometrial cancer in women with Lynch syndrome.

Helder-Woolderink JM, De Bock GH, Sijmons RH, Hollema H, Mourits MJ.

Gynecol Oncol. 2013 Nov;131(2):304-8. doi: 10.1016/j.ygyno.2013.05.032. Epub 2013 Jun 13.

PMID:
23769810
37.

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.

Sikkema-Raddatz B, Johansson LF, de Boer EN, Almomani R, Boven LG, van den Berg MP, van Spaendonck-Zwarts KY, van Tintelen JP, Sijmons RH, Jongbloed JD, Sinke RJ.

Hum Mutat. 2013 Jul;34(7):1035-42. doi: 10.1002/humu.22332. Epub 2013 Apr 29.

PMID:
23568810
38.

Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians.

Sijmons RH, Greenblatt MS, Genuardi M.

Fam Cancer. 2013 Jun;12(2):181-7. doi: 10.1007/s10689-013-9629-8.

PMID:
23525798
39.

A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing.

Sollie A, Sijmons RH, Lindhout D, van der Ploeg AT, Rubio Gozalbo ME, Smit GP, Verheijen F, Waterham HR, van Weely S, Wijburg FA, Wijburg R, Visser G.

Hum Mutat. 2013 Jul;34(7):967-73. doi: 10.1002/humu.22316. Epub 2013 Jun 3.

PMID:
23504699
40.

The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.

Plazzer JP, Sijmons RH, Woods MO, Peltomäki P, Thompson B, Den Dunnen JT, Macrae F.

Fam Cancer. 2013 Jun;12(2):175-80. doi: 10.1007/s10689-013-9616-0.

PMID:
23443670
41.

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.

Vasen HF, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, Bernstein I, Bertario L, Burn J, Capella G, Colas C, Engel C, Frayling IM, Genuardi M, Heinimann K, Hes FJ, Hodgson SV, Karagiannis JA, Lalloo F, Lindblom A, Mecklin JP, Møller P, Myrhoj T, Nagengast FM, Parc Y, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Sijmons RH, Tejpar S, Thomas HJ, Rahner N, Wijnen JT, Järvinen HJ, Möslein G; Mallorca group.

Gut. 2013 Jun;62(6):812-23. doi: 10.1136/gutjnl-2012-304356. Epub 2013 Feb 13.

42.

Risks of less common cancers in proven mutation carriers with lynch syndrome.

Engel C, Loeffler M, Steinke V, Rahner N, Holinski-Feder E, Dietmaier W, Schackert HK, Goergens H, von Knebel Doeberitz M, Goecke TO, Schmiegel W, Buettner R, Moeslein G, Letteboer TG, Gómez García E, Hes FJ, Hoogerbrugge N, Menko FH, van Os TA, Sijmons RH, Wagner A, Kluijt I, Propping P, Vasen HF.

J Clin Oncol. 2012 Dec 10;30(35):4409-15. doi: 10.1200/JCO.2012.43.2278. Epub 2012 Oct 22.

PMID:
23091106
43.

Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.

Knopperts AP, Nielsen M, Niessen RC, Tops CM, Jorritsma B, Varkevisser J, Wijnen J, Siezen CL, Heine-Bröring RC, van Kranen HJ, Vos YJ, Westers H, Kampman E, Sijmons RH, Hes FJ.

Fam Cancer. 2013 Mar;12(1):43-50. doi: 10.1007/s10689-012-9570-2. Review.

PMID:
23007840
44.

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Thompson BA, Greenblatt MS, Vallee MP, Herkert JC, Tessereau C, Young EL, Adzhubey IA, Li B, Bell R, Feng B, Mooney SD, Radivojac P, Sunyaev SR, Frebourg T, Hofstra RM, Sijmons RH, Boucher K, Thomas A, Goldgar DE, Spurdle AB, Tavtigian SV.

Hum Mutat. 2013 Jan;34(1):255-65. doi: 10.1002/humu.22214. Epub 2012 Oct 22.

45.

Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas.

Harinck F, Kluijt I, van der Stoep N, Oldenburg RA, Wagner A, Aalfs CM, Sijmons RH, Poley JW, Kuipers EJ, Fockens P, van Os TA, Bruno MJ.

J Med Genet. 2012 Jun;49(6):362-5. doi: 10.1136/jmedgenet-2011-100563. Epub 2012 May 25.

PMID:
22636603
46.

The use of arrays to detect copy-number variations in clinical practice.

Sikkema-Raddatz B, Sijmons RH.

Hum Mutat. 2012 Jun;33(6):905. doi: 10.1002/humu.22084. No abstract available.

PMID:
22570302
47.

Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance.

Kluijt I, Sijmons RH, Hoogerbrugge N, Plukker JT, de Jong D, van Krieken JH, van Hillegersberg R, Ligtenberg M, Bleiker E, Cats A; Dutch Working Group on Hereditary Gastric Cancer.

Fam Cancer. 2012 Sep;11(3):363-9. doi: 10.1007/s10689-012-9521-y.

PMID:
22388873
48.

Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated.

Harinck F, Kluijt I, van Mil SE, Waisfisz Q, van Os TA, Aalfs CM, Wagner A, Olderode-Berends M, Sijmons RH, Kuipers EJ, Poley JW, Fockens P, Bruno MJ.

Eur J Hum Genet. 2012 May;20(5):577-9. doi: 10.1038/ejhg.2011.226. Epub 2011 Dec 14.

49.

The introduction of a choice to learn pre-symptomatic DNA test results for BRCA or Lynch syndrome either face-to-face or by letter.

Voorwinden JS, Jaspers JP, ter Beest JG, Kievit Y, Sijmons RH, Oosterwijk JC.

Clin Genet. 2012 May;81(5):421-9. doi: 10.1111/j.1399-0004.2011.01811.x. Epub 2011 Dec 13.

PMID:
22091929
50.

CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling.

Kluijt I, Siemerink EJ, Ausems MG, van Os TA, de Jong D, Simões-Correia J, van Krieken JH, Ligtenberg MJ, Figueiredo J, van Riel E, Sijmons RH, Plukker JT, van Hillegersberg R, Dekker E, Oliveira C, Cats A, Hoogerbrugge N; Dutch Working Group on Hereditary Gastric Cancer.

Int J Cancer. 2012 Jul 15;131(2):367-76. doi: 10.1002/ijc.26398. Epub 2011 Oct 23.

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