Urological cancer related to familial syndromes.
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.
Departamento de Urologia, AC Camargo Cancer Center, São Paulo, SP, Brasil.
Walter Henriques da
WH
Costa
Department of Pathology, Department of Urology and Department of Oncology, Johns Hopkins University - Baltimore, Maryland, United States.
George
G
Jabboure
Departamento de Patologia, AC Camargo Cancer Center, São Paulo, SP, Brasil.
Isabela Werneck da
IW
Cunha
D002292:Carcinoma, Renal Cell / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D012307:Risk Factors; D014571:Urologic Neoplasms / Q000235:genetics*
Neoplastic Syndromes, Hereditary; Syndrome; Urinary Tract