Urological cancer related to familial syndromes
Int. braz. j. urol
;
43(2): 192-201, Mar.-Apr. 2017. tab, graf
Artigo
em Inglês
| LILACS
| ID: biblio-840816
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Síndromes Neoplásicas Hereditárias
/
Neoplasias Urológicas
Tipo de estudo:
Estudo de etiologia
/
Estudo prognóstico
/
Fatores de risco
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Int. braz. j. urol
Assunto da revista:
Urologia
Ano de publicação:
2017
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
AC Camargo Cancer Center/BR
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