Genetic tumour syndromes of the urinary and male genital tracts
2022-11-28 Paola Dal Cin, PhD , Michelle S. Hirsch, MD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Classification
Definition
There are several genetic disorders associated with genitourinary system. The occurrence of bilateral, multifocal, or metachronous neoplasms and specific histopathologic findings can suggest a genetic predisposition syndrome. Constitutional pathogenetic variants can now be routinely screened by next generation sequencing (NGS) to identify at-risk individuals in affected families and offer genetic counseling, choice of therapy and surveillance guideline. However, there are many more genes associated with specific syndromes and disorders that can predispose individuals to genitourinary tumors. See details in 5th edition (2022) WHO Urinary and Male Genital Tumours.
| Genetic tumor syndromes of the urinary and male genital tracts | OMIM | |
|---|---|---|
| Von-Hippel Lindau syndrome | OMIM:193300 | |
| Birt-Hogg-Dube' syndrome | OMIM:135150 | |
| Hereditary papillary renal carcinoma | OMIM:605074 | |
| Hereditary leiomyomatosis and renal cell carcinoma syndrome | OMIM:150800 | |
| Succinate-deydrogenase-deficient tumor syndromes | OMIM:16800,OMIM:601650,OMIM:608373,OMIM:16800, OMIM:614165 | |
| BAP1 tumor predisposition syndrome | OMIM:614327 | |
| Hereditary pheochromocytoma and paraganglioma syndromes | OMIM:16800,OMIM:601650,OMIM:608373, OMIM:16800, OMIM:614165 | |
| Tuberous sclerosis | OMIM:191100,OMIM:613254 | |
| Genitourinary system and Lynch syndromes | OMIM:120435, OMIM:609310,OMIM:614337,OMIM:614350, OMIM:613244 | |
| Hereditary tumor syndromes associated with homologous recombination pathway mutations | Homologous Recombination (HR)-deficient tumors are caused by germline mutations in the BRCA1, BRCA2, ATM, and CHEK2 genes. 1-5 | |
| Carney complex | OMIM:160980 | |
| Peutz-Jeghers syndrome | OMIM:185470 | |
| Hereditary kidney cancer with germline chromosomal 3p translocation | 6,7 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 28323334 | 2017 | The emerging role of homologous recombination repair and PARP inhibitors in genitourinary malignancies. | Rimar KJ et al |
| 2 | 31794323 | 2020 | Cancer Susceptibility Mutations in Patients With Urothelial Malignancies. | Carlo MI et al |
| 3 | 31844177 | 2020 | Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma. | Nassar AH et al |
| 4 | 32801862 | 2020 | PARP Inhibitors in Endometrial Cancer: Current Status and Perspectives. | Musacchio L et al |
| 5 | 33462368 | 2021 | Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer. | Lotan TL et al |
| 6 | 15579032 | 2004 | Chromosome 3 translocations and familial renal cell cancer. | Bonné AC et al |
| 7 | 19827124 | 2010 | Population-based survey of cancer risks in chromosome 3 translocation carriers. | Woodward ER et al |
Citation
Paola Dal Cin, PhD ; Michelle S. Hirsch, MD
Genetic tumour syndromes of the urinary and male genital tracts
Atlas Genet Cytogenet Oncol Haematol. 2022-11-28
Online version: http://atlasgeneticsoncology.org/solid-tumor/208964/genetic-tumour-syndromes-of-the-urinary-and-male-genital-tracts
