TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

M.W. Ruijs; S. Verhoef; M.A. Rookus; R. Pruntel; A.H. van der Hout; F.B. Hogervorst; I. Kluijt; R.H. Sijmons; C.M. Aalfs; A. Wagner; M.G.E.M. Ausems; N. Hoogerbrugge; CJ van Asperen; E.B. Gomez Garcia; H. Meijers-Heijboer; LP ten Kate; F.H. Menko; L.J. van 't Veer

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

Translated title of the contribution: TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

M.W. Ruijs
, S. Verhoef
, M.A. Rookus
, R. Pruntel
, A.H. van der Hout
, F.B. Hogervorst
, I. Kluijt
, R.H. Sijmons
, C.M. Aalfs
, A. Wagner
, M.G.E.M. Ausems
, N. Hoogerbrugge
, CJ van Asperen
, E.B. Gomez Garcia
, H. Meijers-Heijboer
, LP ten Kate
, F.H. Menko
, L.J. van 't Veer

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contribution	TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
Original language	Undefined/Unknown
Pages (from-to)	421-428
Number of pages	8
Journal	Journal of Medical Genetics
Volume	47
Publication status	Published - 2010

Cite this

Ruijs, M. W., Verhoef, S., Rookus, M. A., Pruntel, R., van der Hout, A. H., Hogervorst, F. B., Kluijt, I., Sijmons, R. H., Aalfs, C. M., Wagner, A., Ausems, M. G. E. M., Hoogerbrugge, N., van Asperen, CJ., Gomez Garcia, E. B., Meijers-Heijboer, H., ten Kate, LP., Menko, F. H., & van 't Veer, L. J. (2010). TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. Journal of Medical Genetics, 47, 421-428.

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title = "TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes",

author = "M.W. Ruijs and S. Verhoef and M.A. Rookus and R. Pruntel and \{van der Hout\}, A.H. and F.B. Hogervorst and I. Kluijt and R.H. Sijmons and C.M. Aalfs and A. Wagner and M.G.E.M. Ausems and N. Hoogerbrugge and \{van Asperen\}, CJ and \{Gomez Garcia\}, E.B. and H. Meijers-Heijboer and \{ten Kate\}, LP and F.H. Menko and \{van 't Veer\}, L.J.",

year = "2010",

language = "Undefined/Unknown",

volume = "47",

pages = "421--428",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

}

Ruijs, MW, Verhoef, S, Rookus, MA, Pruntel, R, van der Hout, AH, Hogervorst, FB, Kluijt, I, Sijmons, RH, Aalfs, CM, Wagner, A, Ausems, MGEM, Hoogerbrugge, N, van Asperen, CJ, Gomez Garcia, EB, Meijers-Heijboer, H, ten Kate, LP, Menko, FH & van 't Veer, LJ 2010, 'TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes', Journal of Medical Genetics, vol. 47, pp. 421-428.

TY - JOUR

T1 - TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

AU - Ruijs, M.W.

AU - Verhoef, S.

AU - Rookus, M.A.

AU - Pruntel, R.

AU - van der Hout, A.H.

AU - Hogervorst, F.B.

AU - Kluijt, I.

AU - Sijmons, R.H.

AU - Aalfs, C.M.

AU - Wagner, A.

AU - Ausems, M.G.E.M.

AU - Hoogerbrugge, N.

AU - van Asperen, CJ

AU - Gomez Garcia, E.B.

AU - Meijers-Heijboer, H.

AU - ten Kate, LP

AU - Menko, F.H.

AU - van 't Veer, L.J.

PY - 2010

Y1 - 2010

M3 - Article

SN - 0022-2593

VL - 47

SP - 421

EP - 428

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

ER -