ABSTRACT
Cancer related to hereditary
syndromes corresponds to approximately 5-10% of all
tumors. Among those from the
genitourinary system, many
tumors had been identified to be related to genetic
syndromes in the last years with the advent of new
molecular genetic tests. New entities were described or better characterized, especially in
kidney cancer such as hereditary
leiomyomatosis renal cell carcinoma (HLRCC),
succinate dehydrogenase kidney cancer (SDH-RCC), and more recently BAP1
germline mutation related RCC. Among
tumors from the
bladder or
renal pelvis, some studies had reinforced the
role of
germline mutations in
mismatch repair (MMR)
genes, especially in young
patients. In
prostate adenocarcinoma, besides
mutations in BRCA1 and
BRCA2 genes that are known to increase the
incidence of high-
risk cancer in young
patients, new studies have shown
mutation in other
gene such as HOXB13 and also polymorphisms in MYC, MSMB, KLK2 and KLK3 that can be related to hereditary
prostate cancer. Finally,
tumors from
testis that showed an increased in 8 - 10-fold in
siblings and 4 - 6-fold in
sons of
germ cell tumors (TGCT)
patients, have been related to alteration in
X chromosome. Also
genome wide association studies GWAS pointed new
genes that can also be related to increase of this susceptibility.