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

Marielle W. G. Ruijs; Senno Verhoef; Matti A. Rookus; Roelof Pruntel; Annemarie H. van der Hout; Frans B. L. Hogervorst; Irma Kluijt; Rolf H. Sijmons; Cora M. Aalfs; Anja Wagner; Margreet G. E. M. Ausems; Nicoline Hoogerbrugge; Christi J. van Asperen; Encarna B. Gomez Garcia; Hanne E. J. Meijers-Heijboer; Leo P. ten Kate; Fred H. Menko; Laura J. van't Veer

doi:10.1136/jmg.2009.073429

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

Marielle W. G. Ruijs, Senno Verhoef, Matti A. Rookus, Roelof Pruntel, Annemarie H. van der Hout, Frans B. L. Hogervorst, Irma Kluijt, Rolf H. Sijmons, Cora M. Aalfs, Anja Wagner, Margreet G. E. M. Ausems, Nicoline Hoogerbrugge, Christi J. van Asperen, Encarna B. Gomez Garcia, Hanne E. J. Meijers-Heijboer, Leo P. ten Kate, Fred H. Menko, Laura J. van't Veer

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

Original language	English
Pages (from-to)	421-428
Journal	Journal of Medical Genetics
Volume	47
Issue number	6
DOIs	https://doi.org/10.1136/jmg.2009.073429
Publication status	Published - Jun 2010

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10.1136/jmg.2009.073429

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Ruijs, M. W. G., Verhoef, S., Rookus, M. A., Pruntel, R., van der Hout, A. H., Hogervorst, F. B. L., Kluijt, I., Sijmons, R. H., Aalfs, C. M., Wagner, A., Ausems, M. G. E. M., Hoogerbrugge, N., van Asperen, C. J., Garcia, E. B. G., Meijers-Heijboer, H. E. J., ten Kate, L. P., 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(6), 421-428. https://doi.org/10.1136/jmg.2009.073429

Ruijs, Marielle W. G. ; Verhoef, Senno ; Rookus, Matti A. ; Pruntel, Roelof ; van der Hout, Annemarie H. ; Hogervorst, Frans B. L. ; Kluijt, Irma ; Sijmons, Rolf H. ; Aalfs, Cora M. ; Wagner, Anja ; Ausems, Margreet G. E. M. ; Hoogerbrugge, Nicoline ; van Asperen, Christi J. ; Garcia, Encarna B. Gomez ; Meijers-Heijboer, Hanne E. J. ; ten Kate, Leo P. ; Menko, Fred H. ; van't Veer, Laura J. / TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. In: Journal of Medical Genetics. 2010 ; Vol. 47, No. 6. pp. 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 = "Ruijs, {Marielle W. G.} and Senno Verhoef and Rookus, {Matti A.} and Roelof Pruntel and {van der Hout}, {Annemarie H.} and Hogervorst, {Frans B. L.} and Irma Kluijt and Sijmons, {Rolf H.} and Aalfs, {Cora M.} and Anja Wagner and Ausems, {Margreet G. E. M.} and Nicoline Hoogerbrugge and {van Asperen}, {Christi J.} and Garcia, {Encarna B. Gomez} and Meijers-Heijboer, {Hanne E. J.} and {ten Kate}, {Leo P.} and Menko, {Fred H.} and {van't Veer}, {Laura J.}",

year = "2010",

month = jun,

doi = "10.1136/jmg.2009.073429",

language = "English",

volume = "47",

pages = "421--428",

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Ruijs, MWG, Verhoef, S, Rookus, MA, Pruntel, R, van der Hout, AH, Hogervorst, FBL, Kluijt, I, Sijmons, RH, Aalfs, CM, Wagner, A, Ausems, MGEM, Hoogerbrugge, N, van Asperen, CJ, Garcia, EBG, Meijers-Heijboer, HEJ, 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, no. 6, pp. 421-428. https://doi.org/10.1136/jmg.2009.073429

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. / Ruijs, Marielle W. G.; Verhoef, Senno; Rookus, Matti A.; Pruntel, Roelof; van der Hout, Annemarie H.; Hogervorst, Frans B. L.; Kluijt, Irma; Sijmons, Rolf H.; Aalfs, Cora M.; Wagner, Anja; Ausems, Margreet G. E. M.; Hoogerbrugge, Nicoline; van Asperen, Christi J.; Garcia, Encarna B. Gomez; Meijers-Heijboer, Hanne E. J.; ten Kate, Leo P.; Menko, Fred H.; van't Veer, Laura J.

In: Journal of Medical Genetics, Vol. 47, No. 6, 06.2010, p. 421-428.

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

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, Marielle W. G.

AU - Verhoef, Senno

AU - Rookus, Matti A.

AU - Pruntel, Roelof

AU - van der Hout, Annemarie H.

AU - Hogervorst, Frans B. L.

AU - Kluijt, Irma

AU - Sijmons, Rolf H.

AU - Aalfs, Cora M.

AU - Wagner, Anja

AU - Ausems, Margreet G. E. M.

AU - Hoogerbrugge, Nicoline

AU - van Asperen, Christi J.

AU - Garcia, Encarna B. Gomez

AU - Meijers-Heijboer, Hanne E. J.

AU - ten Kate, Leo P.

AU - Menko, Fred H.

AU - van't Veer, Laura J.

PY - 2010/6

Y1 - 2010/6

U2 - 10.1136/jmg.2009.073429

DO - 10.1136/jmg.2009.073429

M3 - Article

VL - 47

SP - 421

EP - 428

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 6

ER -