Articles

Genetic testing in prostate cancer in clinical practice

BJMO - volume 15, issue 4, june 2021

R. de Putter MD, B. De Laere PhD, P. Ost MD, PhD, K.B.M. Claes PhD

SUMMARY

Mutations in DNA damage repair (DDR) genes are relatively common in prostate cancer (PC), and may guide therapy selection. Approximately half of somatic DDR mutations are also present in the germline and lead to a heritable cancer predisposition syndrome (CPS), which informs on future risk, prostate cancer prognosis, and therapeutic options. In germline carriers, genetic counselling is essential to help psychosocial coping and to provide pre-symptomatic testing in relatives, who upon carrier identification can opt for intensified surveillance or – in some cases – prophylactic surgery.

(BELG J MED ONCOL 2021;15(4):156-63)

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Practical issues of next generation sequencing in prostate cancer

BJMO - 2021, issue SPECIAL, march 2021

R. de Putter MD

With the advent of next-generation sequencing (NGS) technologies together with large whole-exome and genome studies in prostate and other cancers, our understanding of the landscape of genomic alterations has dramatically been refined. Several studies found that germline or acquired DNA damage repair (DDR) defects affect a high percentage of castration resistant prostate cancer (CRPC) patients. Among DDR defects, BRCA mutations show relevant clinical implications. BRCA mutations are associated with adverse clinical features in primary tumors and with poor outcomes in patients with mCRPC. In addition, BRCA mutations predict a good response to poly-ADP ribose polymerase (PARP) inhibitors. However, concerns still remain on the role of extensive mutational testing in prostate cancer patients, given the implications for patients and for their progeny. During the 2021 annual BMUC meeting, these and other issues regarding NGS testing in prostate cancer were addressed by Dr. Robin de Putter.

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Not just a ‘usual’ Li-Fraumeni syndrome

BJMO - volume 14, issue 3, may 2020

Y. Dockx MD, A. Goossens MD, J. Decloedt MD, R. de Putter MD, M. Vandewalle MD, W. Lybaert MD

SUMMARY

The Li-Fraumeni syndrome (LFS) is characterised clinically by the appearance of tumours in multiple organs, generally at an early age. This hereditary condition is caused by germinal mutations in the TP53 gene, which codifies for the tumour suppressor gene p53.

We present here the case of a patient aged 40 with the diagnosis of LFS who presented with premenopausal breast cancer. She had a positive family history of cancer. As a consequence, she was referred to genetic counselling. Genetic analysis revealed a TP53 germline mutation, which is diagnostic for LFS. However, further genetic analysis of different tissues showed a genetic mosaicism in our patient.

Patients with LFS have a high risk for a broad spectrum of tumours. The diagnosis and management of Li-Fraumeni syndrome should be performed by a multidisciplinary team, and genetic counselling should be offered to patients and their relatives. Targeted next-generation sequencing represents an efficient approach for the identification of mutations in families with a heterogeneous phenotype. Theoretically, since mosaics do not have mutations in all of their cells, the cells that do not have mutant p53 are less likely to undergo malignant transformation or have the same risk of everyone else.

(BELG J MED ONCOL 2020;14(3):100–105)

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Molecular test algorithms for breast tumours

BJMO - volume 13, issue 2, march 2019

Ir A. Hébrant PhD, K. Punie MD, F.P. Duhoux MD, PhD, C. Colpaert MD, PhD, G. Floris MD, PhD, K. Lambein MD, PhD, P. Neven MD, PhD, M. Berlière MD, PhD, R. Salgado MD, PhD, M. Chintinne MD, PhD, K. Dahan MD, PhD, S. Dedeurwaerdere MD, J. De Grève MD, PhD, A. de Leener MD, PhD, H. Denys MD, PhD, R. de Putter MD, L. Desmyter PhD, M. Baldewijns MD, PhD, D. Feret MD, C. Fontaine MD, C. Galant MD, P. Hilbert PhD, J. Janssens MD, PhD, D. Larsimont MD, PhD, P. Lefesvre MD, PhD, T. Sticca PhD, M-D. Tkint de Roodenbeke MD, G. Van Den Eynden MD, PhD, I. Vanden Bempt PhD, C. Van den Broecke MD, I. Vandernoot MD, C. Sotiriou MD, PhD, J. van Dorpe MD, PhD, H.A. Poirel MD, PhD, E. Van Valckenborgh PhD, G. Raicevic PhD, M. Van den Bulcke PhD, P. Aftimos MD

SUMMARY

In order to advise the Federal Government on all matters related to personalised medicine in oncology, including the reimbursement of molecular tests, the Commission of Personalized Medicine (ComPerMed) has applied, for the breast tumours, the same methodology as previously applied for the digestive tumours. Meaning, the different molecular tests, represented in the shape of algorithms, are annotated with test levels — which aim to reflect their relevance based on current available data and to define the reimbursement — and are documented with recent literature, guidelines and a brief technical description.

(BELG J MED ONCOL 2019;13(2):40–45)

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