The Radboudumc research team has finished various research projects on PHTS. You can look into the results of these projects online by clicking on the titles below.

Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome

Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, Tveit Haavind M, Innella G, Turchetti D, Aretz S, Spier I, Tischkowitz M, Jahn A, Links TP, Olderode-Berends MJW, Blatnik A, Leter EM, Evans DG, Woodward ER, Steinke-Lange V, Anastasiadou VC, Colas C, Villy M, Benusiglio PR, Gerasimenko A, Barili V, Branchaud M, Houdayer C, Tesi B, Yazicioglu MO, Van der Post RS, Schuurs-Hoeijmakers JHM, PTEN Study Group, Vos JR.

J Natl Cancer Inst. 2022.


Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A, PTEN Study Group, Mensenkamp AR, Vos JR.

European Journal of Medical Genetics (2022).


The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome.

Alma Hoxhaj A, Drissen MMCM, Vos JR, Bult P, Mann RM, Hoogerbrugge N.

Cancer 2022.


Detection and Yield of Colorectal Cancer Surveillance in Adults with PTEN Hamartoma Tumour Syndrome.
Drissen MMCM, Vos JR, van der Biessen-van Beek DTJ, van der Post RS, Nagtegaal ID, van Kouwen MCA, Bisseling TM, Hoogerbrugge N. 

Cancers. 2022;14(16):4005. PMID: 36010998


Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review.
Hendricks LAJ, Schuurs-Hoeijmakers J, Spier I, Haadsma ML, Eijkelenboom A, Cremer K, Mensenkamp AR, Aretz S, Vos JR, Hoogerbrugge N. 
Eur J Med Genet. 2022;65(7):104533. PMID: 35640862
Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome.
Drissen MMCM, Schieving JH, Schuurs-Hoeijmakers JHM, Vos JR, Hoogerbrugge N. 
Eur J Med Genet. 2021;64(12):104364. PMID: 34637944

A review on age-related cancer risks in PTEN hamartoma tumor syndrome.
Hendricks LAJ, Hoogerbrugge N, Schuurs-Hoeijmakers JHM, Vos JR. 

Clin Genet. 2021;99:219-225. PMID: 33140411


“Patient Journeys”: improving care by patient involvement.

Bolz-Johnson M, Meek J, Hoogerbrugge N.

Eur J Hum Genet. 2020;28(2):141-143. PMID: 31801983


Recommendations on Surveillance for Differentiated Thyroid Carcinoma in Children with PTEN Hamartoma Tumor Syndrome.

Jonker LA, Lebbink CA, Jongmans MCJ, Nievelstein RAJ, Merks JHM, Nieveen van Dijkum EJM, Links TP, Hoogerbrugge N, van Trotsenburg ASP, van Santen HM.
Eur Thyroid J. 2020;9(5):234-242. PMID: 33088791

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome.

Tischkowitz M, Colas C, Pouwels S, Hoogerbrugge N; PHTS Guideline Development Group; European Reference Network GENTURIS.
Eur J Hum Genet. 2020;28(10):1387-1393. PMID: 32533092

Effect of PTEN inactivating germline mutations on innate immune cell function and thyroid cancer-induced macrophages in patients with PTEN hamartoma tumor syndrome.

Sloot YJE, Rabold K, Netea MG, Smit JWA, Hoogerbrugge N, Netea-Maier RT.
Oncogene. 2019;38(19):3743-3755. PMID: 30670777