Search Results - "Kets, M"

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…”
Get full text

Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers by van der Post, R S, Kiemeney, L A, Ligtenberg, M J L, Witjes, J A, Hulsbergen-van de Kaa, C A, Bodmer, D, Schaap, L, Kets, C M, van Krieken, J H J M, Hoogerbrugge, N

“…Colorectal, endometrial and upper urinary tract tumours are characteristic for Lynch syndrome (hereditary non-polyposis colon carcinoma, HNPCC). The aim of the…”
Get more information

Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report by van Riel, L., Kets, C. M., van Hest, L. P., Menko, F. H., Boerrigter, B. G., Franken, S. M., Wolthuis, R. M.F., Dubbink, H. J., Zondervan, P. J., van Moorselaar, R. J.A., Houweling, A. C., van de Beek, I.

Get full text

Risk-reducing salpingectomy with delayed oophorectomy to prevent ovarian cancer in women with an increased inherited risk: insights into an alternative strategy by Gootzen, TA, Steenbeek, MP, van Bommel, MHD, IntHout, J, Kets, CM, Hermens, RPMG, de Hullu, JA

“…Epithelial ovarian cancer (EOC) is the most lethal type of gynaecological cancer, due to lack of effective screening possibilities and because the disease…”
Get full text

Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats by You, J-F, Buhard, O, Ligtenberg, M J L, Kets, C M, Niessen, R C, Hofstra, R M W, Wagner, A, Dinjens, W N M, Colas, C, Lascols, O, Collura, A, Flejou, J-F, Duval, A, Hamelin, R

“…Background: Microsatellite instability (MSI) is commonly screened using a panel of two mononucleotide and three dinucleotide repeats as recommended by a…”
Get full text

Genetic counseling of patients with ovarian carcinoma: acceptance, timing, and psychological wellbeing by Van de Beek, I., Smets, E. M. A., Legdeur, M. A., de Hullu, J. A., Lok, C. A. R., Buist, M. R., Mourits, M. J. E., Kets, C. M., van der Kolk, L. E., Oosterwijk, J. C., Aalfs, C. M.

“…The new Dutch guidelines on hereditary and familial ovarian carcinoma recommend genetic testing of all patients with epithelial ovarian cancer (EOC). With this…”
Get full text

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) by Koolen, D A, Nillesen, W M, Versteeg, M H A, Merkx, G F M, Knoers, N V A M, Kets, M, Vermeer, S, van Ravenswaaij, C M A, de Kovel, C G, Brunner, H G, Smeets, D, de Vries, B B A, Sistermans, E A

“…Background: Subtelomeric rearrangements contribute to idiopathic mental retardation and human malformations, sometimes as distinct mental retardation…”
Get full text

Young age and a positive family history of colorectal cancer are complementary selection criteria for the identification of Lynch syndrome by Manders, P, Spruijt, L, Kets, C.M, Willems, H.W, Bodmer, D, Hebeda, K.M, Nagtegaal, I.D, van Krieken, J.H.J.M, Ligtenberg, M.J.L, Hoogerbrugge, N

“…Abstract Families at high risk for Lynch syndrome can effectively be recognised by microsatellite instability (MSI) testing. The aim of the present study is to…”
Get full text

Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer by OVERBEEK, L. I. H, KETS, C. M, HOOGERBRUGGE, N, LIGTENBERG, M. J. L, HEBEDA, K. M, BODMER, D, VAN DER LOOIJ, E, WILLEMS, R, GOOSSENS, M, ARTS, N, BRUNNER, H. G, VAN KRIEKEN, J. H. J. M

“…The cancer risk is unknown for those families in which a microsatellite instable tumour is neither explained by MLH1 promoter methylation nor by a germline…”
Get full text

Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2 by KETS, Carolien M, HOOGERBRUGGE, Nicoline, VAN KRIEKEN, Joannes H. J. M, GOOSSENS, Monique, BRUNNER, Han G, LIGTENBERG, Marjolijn J. L

“…Mono-allelic germline mutations in mismatch repair (MMR) genes lead to Lynch syndrome, an autosomal dominant syndrome with an increased risk of predominantly…”
Get full text

Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners by Gietel-Habets, J.J.G., de Die-Smulders, C.E.M., Derks-Smeets, I.A.P., Tibben, A., Tjan-Heijnen, V.C.G., van Golde, R., Gomez-Garcia, E., Kets, C.M., van Osch, L.A.D.M.

“…Abstract STUDY QUESTION To what extent are BRCA mutation carriers and their partners in the Netherlands aware about preimplantation genetic diagnosis (PGD) and…”
Get full text

Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability by KETS, C. M, VAN KRIEKEN, J. H. J. M, HEBEDA, K. M, WEZENBERG, S. J, GOOSSENS, M, BRUNNER, H. G, LIGTENBERG, M. J. L, HOOGERBRUGGE, N

“…Hereditary non-polyposis colorectal cancer (HNPCC) is caused by mutations in one of the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 and results in…”
Get full text

Is early‐onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome? by Kets, C.M., van Krieken, J.H.J.M., van Erp, P.E.J., Feuth, T., Jacobs, Y.H.A, Brunner, H.G., Ligtenberg, M.J.L., Hoogerbrugge, N.

“…Most colorectal cancers show either microsatellite or chromosomal instability. A subset of colorectal cancers, especially those diagnosed at young age, is…”
Get full text

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…”
Get full text

Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation by Wagner, A, Tops, C, Wijnen, J T, Zwinderman, K, van der Meer, C, Kets, M, Niermeijer, M F, Klijn, J G M, Tibben, A, Vasen, H F A, Meijers-Heijboer, H

“…1, 2 HNPCC is characterised by a high risk of developing colorectal cancer and endometrial cancer at a young age (cumulative lifetime risk 80-90% and 30-40%,…”
Get full text

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations by Friedrich, Katrin, Lee, Lin, Leistritz, Dru F, Nürnberg, Gudrun, Saha, Bidisha, Hisama, Fuki M, Eyman, Daniel K, Lessel, Davor, Nürnberg, Peter, Li, Chumei, Garcia-F-Villalta, María J, Kets, Carolien M, Schmidtke, Joerg, Cruz, Vítor Tedim, Van den Akker, Peter C, Boak, Joseph, Peter, Dincy, Compoginis, Goli, Cefle, Kivanc, Ozturk, Sukru, López, Norberto, Wessel, Theda, Poot, Martin, Ippel, P. F, Groff-Kellermann, Birgit, Hoehn, Holger, Martin, George M, Kubisch, Christian, Oshima, Junko

“…Werner syndrome (WS) is an autosomal recessive segmental progeroid syndrome caused by null mutations at the WRN locus, which codes for a member of the RecQ…”
Get full text

1391P Tumor-first mutation-specific risk approach to trigger germline testing in castration-resistant prostate cancer by Kloots, I.S.H., Kets, M., Schuurs-Hoeijmakers, J., Westdorp, H., Coskunturk, M., Bloemendal, H., Gerritsen, W.R., van Oort, I.M., Ligtenberg, M., Mehra, N.

Get full text

Is colorectal surveillance indicated in patients with PTEN mutations? by Nieuwenhuis, M. H., Kets, C. M., Murphy-Ryan, M., Colas, C., Möller, P., Hes, F. J., Hodgson, S. V., Olderode-Berends, M. J. W., Aretz, S., Heinimann, K., Gomez Garcia, E. B., Douglas, F., Spigelman, A., Timshel, S., Lindor, N. M., Vasen, H. F. A.

“…Aim  Patients with germline phosphatase and tensin homologue (PTEN) mutations develop hamartomatous lesions in several organs and are at increased risk of…”
Get full text

Focusing on Patient Needs and Preferences May Improve Genetic Counseling for Colorectal Cancer by Salemink, Simone, Dekker, Nicky, Kets, Carolien M., van der Looij, Erica, van Zelst-Stams, Wendy A. G., Hoogerbrugge, Nicoline

“…During cancer genetic counseling, different items which counselors consider important are discussed. However, relatively little empirical evidence exists…”
Get full text

Reference values for touch sensibility thresholds in healthy Nepalese volunteers by Kets, C M, Van Leerdam, M E, Van Brakel, W H, Deville, W, Bertelsmann, F W

“…A hundred and thirty-six apparently healthy volunteers between the ages of 16 and 67 were used to determine normative thresholds of tactile sensibility in the…”
Get more information