Clinical and genetic aspects of testicular germ cell tumours

<p>Abstract</p> <p>In this paper we review clinical and genetic aspects of testicular germ cell tumours (TGCTs). TGCT is the most common type of malignant disorder in men aged 15-40 years. Its incidence has increased sharply in recent years. Fortunately, survival of patients with T...

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Main Authors: Holzik Martijn, Sijmons Rolf H, Hoekstra-Weebers Josette EHM, Sleijfer Dirk T, Hoekstra Harald J
Format: Article
Language:English
Published: BMC 2008-02-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
Online Access:http://www.hccpjournal.com/content/6/1/3
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author Holzik Martijn
Sijmons Rolf H
Hoekstra-Weebers Josette EHM
Sleijfer Dirk T
Hoekstra Harald J
author_facet Holzik Martijn
Sijmons Rolf H
Hoekstra-Weebers Josette EHM
Sleijfer Dirk T
Hoekstra Harald J
author_sort Holzik Martijn
collection DOAJ
description <p>Abstract</p> <p>In this paper we review clinical and genetic aspects of testicular germ cell tumours (TGCTs). TGCT is the most common type of malignant disorder in men aged 15-40 years. Its incidence has increased sharply in recent years. Fortunately, survival of patients with TGCT has improved enormously, which can chiefly be attributed to the cisplatin-based polychemotherapy that was introduced in the nineteen eighties to treat patients with metastasized TGCT. In addition, new strategies have been developed in the surgical approach to metastasized/non-metastasized TGCT and alterations have been made to the radiotherapy technique and radiation dose for seminoma. Family history of TGCT is among the strongest risk factors for this tumour type. Although this fact and others suggest the existence of genetic predisposition to develop TGCT, no germline mutations conferring high risk of developing TGCT have been identified so far. A small deletion, referred to as gr/gr, identified on the Y chromosome is probably associated with only a modest increase in TGCT risk, and linkage of familial TGCT to the Xq27 region has not been confirmed yet. Whether highly penetrant TGCT-predisposing mutations truly exist or familial clustering of TGCT can be explained by combinations of weak predispositions, shared in utero or postnatal risks factors and coincidental somatic mutations is an intriguing puzzle, still waiting to be solved.</p>
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spelling doaj.art-3909e01880534bd89b614f894f0760a52022-12-22T02:46:13ZengBMCHereditary Cancer in Clinical Practice1897-42872008-02-016131410.1186/1897-4287-6-1-3Clinical and genetic aspects of testicular germ cell tumoursHolzik MartijnSijmons Rolf HHoekstra-Weebers Josette EHMSleijfer Dirk THoekstra Harald J<p>Abstract</p> <p>In this paper we review clinical and genetic aspects of testicular germ cell tumours (TGCTs). TGCT is the most common type of malignant disorder in men aged 15-40 years. Its incidence has increased sharply in recent years. Fortunately, survival of patients with TGCT has improved enormously, which can chiefly be attributed to the cisplatin-based polychemotherapy that was introduced in the nineteen eighties to treat patients with metastasized TGCT. In addition, new strategies have been developed in the surgical approach to metastasized/non-metastasized TGCT and alterations have been made to the radiotherapy technique and radiation dose for seminoma. Family history of TGCT is among the strongest risk factors for this tumour type. Although this fact and others suggest the existence of genetic predisposition to develop TGCT, no germline mutations conferring high risk of developing TGCT have been identified so far. A small deletion, referred to as gr/gr, identified on the Y chromosome is probably associated with only a modest increase in TGCT risk, and linkage of familial TGCT to the Xq27 region has not been confirmed yet. Whether highly penetrant TGCT-predisposing mutations truly exist or familial clustering of TGCT can be explained by combinations of weak predispositions, shared in utero or postnatal risks factors and coincidental somatic mutations is an intriguing puzzle, still waiting to be solved.</p>http://www.hccpjournal.com/content/6/1/3testicular germ cell tumourgeneticsfamilialtherapyreview
spellingShingle Holzik Martijn
Sijmons Rolf H
Hoekstra-Weebers Josette EHM
Sleijfer Dirk T
Hoekstra Harald J
Clinical and genetic aspects of testicular germ cell tumours
Hereditary Cancer in Clinical Practice
testicular germ cell tumour
genetics
familial
therapy
review
title Clinical and genetic aspects of testicular germ cell tumours
title_full Clinical and genetic aspects of testicular germ cell tumours
title_fullStr Clinical and genetic aspects of testicular germ cell tumours
title_full_unstemmed Clinical and genetic aspects of testicular germ cell tumours
title_short Clinical and genetic aspects of testicular germ cell tumours
title_sort clinical and genetic aspects of testicular germ cell tumours
topic testicular germ cell tumour
genetics
familial
therapy
review
url http://www.hccpjournal.com/content/6/1/3
work_keys_str_mv AT holzikmartijn clinicalandgeneticaspectsoftesticulargermcelltumours
AT sijmonsrolfh clinicalandgeneticaspectsoftesticulargermcelltumours
AT hoekstraweebersjosetteehm clinicalandgeneticaspectsoftesticulargermcelltumours
AT sleijferdirkt clinicalandgeneticaspectsoftesticulargermcelltumours
AT hoekstraharaldj clinicalandgeneticaspectsoftesticulargermcelltumours