LUMC Clinical Genetics

Our institution

Leiden University Medical Center
Albinusdreef 2
2333 ZA Leiden
The Netherlands

Our group

Department of Clinical Genetics
Leiden University Medical Center
Postbus 9600
2300 RC Leiden
The Netherlands

Department of Clinical Genetics
LUMC building 2
Post zone S-06-P
PO box 9600
2300 RC Leiden

The name, address and contact e-mail, tel of the group leader

Prof. Dr. M. H. Breuning
Department of Clinical Genetics
Leiden University Medical Center
Postbus 9600
2300 RC Leiden
The Netherlands

Phone: 071-5266090 / 5266060
Fax: 071-526 6749

Our knowledge of mankind’s hereditary characteristics is growing at a tremendous pace. As a result we are becoming more and more successful at tracking down the causes of congenital defects and hereditary diseases.

The Department of Clinical Genetics at the Leiden University Medical Center (LUMC) strives to apply all of this new knowledge as quickly and well as possible in medical practice. Through close collaboration with the Department of Human Genetics at the Center for Human and Clinical Genetics (CHCG) we are able to speedily put into practice the very latest developments in the diagnosis of hereditary diseases.

Related Links

Clinical Genetics, LUMC

Leiden University Medical Center (LUMC)

The Netherlands Foundation for the Detection of Hereditary Tumours

The names and e-mail addresses of group members with a description of their contribution

Management Team Department

Mrs. Dr. C.J. van Asperen
Head Genetic Counseling Section

Prof. Dr. E. Bakker
Head Laboratory Diagnostics sub-department

Prof. Dr. M. H. Breuning
Head Department of Clinical Genetics

Mrs. J.E.M. van Diemen-Homan
Quality Manager Genetic Counseling Section

Mrs. Drs. E. Voorhoeve
quality manager  Laboratory Diagnostics sub-department

Genetic Counselling Section

Mrs. Dr. C.J. van Asperen
head Genetic Counseling Section

Mrs. Dr. E.K. Bijlsma
clinical geneticist

Prof. Dr. M.H. Breuning
clinical geneticist

Mrs. Dr. A.H.J.T. Bröcker-Vriends
clinical geneticist

Mrs. B.T.J. van Brussel
genetic consultant

Mrs. J.E.M. van Diemen-Homan
genetic consultant

Drs. A. van Haeringen
clinical geneticist

Mrs. Drs. A.T.J.M. Helderman – v.d. Enden
clinical geneticist

Mrs. Drs. Y.M. Hendriks
medical assistant clinical genetics

Dr. F.J.H. Hes
clinical geneticist

Mrs. Drs. Y. Hilhorst-Hofstee
clinical geneticist

Mrs. Dr. N.S. den Hollander
clinical geneticist

Mrs. Dr. S.G. Kant
clinical geneticist

Mrs. Drs. M. Kriek
medical assistant clinical genetics

Mrs. Dr. S.A.M.J. Lesnik Oberstein
medical assistant clinical genetics

Mrs. A.M. van Mil
genetic consultant

Mrs. I. v.d. Schoot-van Velzen
genetic consultant in training

Mrs. Drs. F. de Snoo
medical assistant clinical genetics

Prof. Dr. A. Tibben



Prof. Dr. E. Bakker
ad interim laboratory head

Mrs. Dr. K.B.M. Hansson
clinical cytogeneticist, laboratory head

Mrs. Dr. M.J.V. Hoffer
clinical cytogeneticist

Mrs. Drs. W.G.M. Kroes
clinical cytogeneticist

Mrs. Dr. C. Ruivenkamp
clinical cytogeneticist in training

Mrs. Drs. S.L. van Zelderen – Bhola
clinical cytogeneticist

Molecular Genetics

Prof. Dr. E. Bakker
laboratory head

Mrs. Dr. E.M.J. Boon
clinical molecular geneticist in training

Mrs. Dr. M.J. van Belzen
clinical molecular geneticist in training

Mrs. Dr. H.B. Ginjaar
clinical molecular geneticist

Ing. A.L.J. Kneppers
head technician

Mrs. Dr. M. Losekoot
clinical molecular geneticist, laboratory head

Mrs. Dr. C.M.J. Tops
clinical molecular geneticist

Mrs. Dr. M.M. Weiss
clinical molecular geneticist in training

Dr. J.T.H. Wijnen
clinical molecular geneticist

Hemoglobinopathies Laboratory

Dr. P.C. Giordano
clinical biochemic geneticist, laboratory head

Dr. C.L. Harteveld
clinical molecular geneticist


 Pavel S, van Nieuwpoort F, van der Meulen H, Out C, Pizinger K, Cetkovska P, Smit NP, Koerten HK.
Disturbed melanin synthesis and chronic oxidative stress in dysplastic naevi.
Eur J Cancer 2004, 40:1423-30.

Hayes MJ, Koundouris A, Gruis N, Bergman W, Peters GG, Sinclair AJ.
P16(INK4A)-independence of Epstein-Barr virus-induced cell proliferation and virus latency.
J Gen Virol. 2004, 85:1381-6.

Zuidervaart W, van der Velden PA, Hurks MH, van Nieuwpoort FA, Out-Luiting CJ, Singh AD, Frants RR, Jager MJ, Gruis NA.
Gene expression profiling identifies tumour markers potentially playing a role in uveal melanoma development.
Br J Cancer. 2003, 89:1914-9.

de Snoo FA, Bergman W, Gruis NA.
Familial melanoma: a complex disorder leading to controversy on DNA testing.
Fam Cancer. 2003,2:109-16.

de vos tot Nederveen Cappel WH, Offerhaus GJ, van Puijenbroek M, Caspers E,Gruis NA, De Snoo FA, Lamers CB, Griffioen G, Bergman W, Vasen HF, Morreau H.
Pancreatic carcinoma in carriers of a specific 19 base pair deletion of CDKN2A/p16 (p16-leiden).
Clin Cancer Res. 2003, 9:3598-605.

van der Velden PA, Zuidervaart W, Hurks MH, Pavey S, Ksander BR, Krijgsman E, Frants RR, Tensen CP, Willemze R, Jager MJ, Gruis NA.
Expression profiling reveals that methylation of TIMP3 is involved in uveal melanoma development.
Int J Cancer. 2003, 106:472-9.

 Gillanders E, Juo SH, Holland EA, Jones M, Nancarrow D, Freas-Lutz D, Sood R, Park N, Faruque M, Markey C, Kefford RF, Palmer J, Bergman W, Bishop DT,Tucker MA, Bressac-de Paillerets B, Hansson J, Stark M, Gruis N, Bishop JN,Goldstein AM, Bailey-Wilson JE, Mann GJ, Hayward N, Trent J; Lund Melanoma Study Group; Melanoma Genetics Consortium.
Localization of a novel melanoma susceptibility locus to 1p22.
Am J Hum Genet. 2003,73:301-13.

Pavel S, Smit NP, van der Meulen H, Kolb RM, de Groot AJ, van der Velden PA,Gruis NA, Bergman W.
Homozygous germline mutation of CDKN2A/p16 and glucose-6-phosphate dehydrogenase deficiency in a multiple melanoma case.
Melanoma Res. 2003,13:171-8.

Bishop DT, Demenais F, Goldstein AM, Bergman W, Bishop JN, Bressac-de Paillerets B, Chompret A, Ghiorzo P, Gruis N, Hansson J, Harland M, Hayward N,Holland EA, Mann GJ, Mantelli M, Nancarrow D, Platz A, Tucker MA; Melanoma Genetics Consortium.
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
J Natl Cancer Inst. 2002,94:894-903.

Brookes S, Rowe J, Ruas M, Llanos S, Clark PA, Lomax M, James MC, Vatcheva R, Bates S, Vousden KH, Parry D, Gruis N, Smit N, Bergman W, Peters G.
INK4a-deficient human diploid fibroblasts are resistant to RAS-induced senescence.
EMBO J. 2002,21:2936-45.

Kennedy C, Naipal A, Gruis NA, Struijk L, ter Schegget J, Willemze R, Claas FH, Bouwes Bavinck JN, Doxiadis II.
MICA gene polymorphism is not associated with an increased risk for skin cancer.
J Invest Dermatol. 2002,118:686-91.

Kennedy C, ter Huurne J, Berkhout M, Gruis N, Bastiaens M, Bergman W, Willemze R, Bavinck JN.
Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.
J Invest Dermatol. 2001, 117:294-300.

van der Velden PA, Sandkuijl LA, Bergman W, Pavel S, van Mourik L, Frants RR, Gruis NA.
Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma.
Am J Hum Genet. 2001, 69:774-9.

Bastiaens M, ter Huurne J, Gruis N, Bergman W, Westendorp R, Vermeer BJ,Bouwes Bavinck JN.
The melanocortin-1-receptor gene is the major freckle gene.
Hum Mol Genet. 2001, 10:1701-8.

Metzelaar-Blok JA, ter Huurne JA, Hurks HM, Keunen JE, Jager MJ, Gruis NA.
Characterization of melanocortin-1 receptor gene variants in uveal melanoma patients.
Invest Ophthalmol Vis Sci. 2001, 42:1951-4.

van der Velden PA, Metzelaar-Blok JA, Bergman W, Monique H, Hurks H, Frants RR, Gruis NA, Jager MJ.
Promoter hypermethylation: a common cause of reduced p16(INK4a) expression in uveal melanoma.
Cancer Res. 2001, 61:5303-6.

Bastiaens MT, Struyk L, Tjong-A-Hung SP, Gruis N, ter Huurne J, Westendorp RG, Vermeer BJ, Bavinck JN, ter Schegget J.
Cutaneous squamous cell carcinoma and p53 codon 72 polymorphism: a need for screening?
Mol Carcinog. 2001, 30:56-61.

Bastiaens MT, ter Huurne JA, Kielich C, Gruis NA, Westendorp RG, Vermeer BJ, Bavinck JN; Leiden Skin Cancer Study Team.
Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair.
Am J Hum Genet. 2001, 68:884-94.

Gruis NA, Bergman W.
[From gene to disease; from p16 to melanoma].
Ned Tijdschr Geneeskd. 2000, 144:2100-2.

Vasen HF, Gruis NA, Frants RR, van Der Velden PA, Hille ET, Bergman W.
Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden).
Int J Cancer. 2000, 87:809-11.

Dekker SK, van Doorn R, Kempenaar J, Gruis NA, Vermeer BJ, Ponec M.
Skin equivalent: an attractive model to evaluate early melanoma metastasis.
Melanoma Res. 2000, 10:127-40.

Gruis NA, van der Velden PA, Bergman W, Frants RR.
Familial melanoma; CDKN2A and beyond.
J Investig Dermatol Symp Proc. 1999, 4:50-4. Review.

van der Velden PA, Sandkuijl LA, Bergman W, Hille ET, Frants RR, Gruis NA.
A locus linked to p16 modifies melanoma risk in Dutch familial atypical multiple mole melanoma (FAMMM) syndrome families.
Genome Res. 1999,9:575-80.

Snels DG, Hille ET, Gruis NA, Bergman W.
Risk of cutaneous malignant melanoma in patients with nonfamilial atypical nevi from a pigmented lesions clinic.
J Am Acad Dermatol. 1999, 40:686-93.