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Hereditary predisposition to kidney cancer: cancer syndromes, multisystemic disorders, and nephropathies


Kidney cancer (KC) is a common disease characterized by extreme heterogeneity. There are nine known monogenic diseases associated with a significantly elevated KC risk: von Hippel-Lindau disease, MET-associated papillary renal cancer, familial multiple leiomyomatosis and renal cell cancer, SDHx-associated familial pheochromocytoma/ paraganglioma, Birt-Hogg-Dube syndrome, tuberous sclerosis, Cowden syndrome, BAP1- and MITF-associated melanoma-KC predisposition. These syndromes differ in the degree of cancer risk, the quantity, growth and progression rates of associated precancerous lesions, the morphology, and clinical presentations of malignancy itself, and in the response to therapy. Identification of causative germline lesion allows planning the surveillance of a mutation carrier, choosing the right time and extent of surgery, and optimizing treatment regimen. Hereditary KC research often brings forward novel approaches to the management of sporadic “phenocopies” of hereditary syndromes, i.e. sporadic cancers with somatic mutations in similar genes. The main directions for further study of genetic factors of KC are to find novel KC genes, to study risk modifiers in carriers of highly penetrant mutations, to clarify the involvement of hereditary nephropathies in the occurrence of renal cancers.

About the Authors

G. A. Yanus
NMRC of Oncology named after N.N. Petrov; St. Petersburg State Pediatric Medical University
Russian Federation

Grigory A. Yanus, Cand. of Sci. (Medicine), Researcher, Laboratory of Molecular Oncology; Researcher, Laboratory of Molecular Diagnostics with an extended group of Ecogenetics

68, Leningradskaya str., Pesochny village, Saint Petersburg, 197758

2, Litovskaya str., Saint Petersburg, 194100

A. G. Iyevleva
NMRC of Oncology named after N.N. Petrov; St. Petersburg State Pediatric Medical University
Russian Federation

Aglaya G. Iyevleva, Cand. of Sci. (Medicine), Senior Researcher, Laboratory of Molecular Oncology; Associate Professor, Department of General and Molecular Medical Genetics

68, Leningradskaya str., Pesochny village, Saint Petersburg, 197758

2, Litovskaya str., Saint Petersburg, 194100

E. N. Suspitsin
NMRC of Oncology named after N.N. Petrov; St. Petersburg State Pediatric Medical University
Russian Federation

Evgeny N. Suspitsin, Cand. of Sci. (Medicine), Senior Researcher, Laboratory of Molecular Oncology; Associate Professor, Department of General and Molecular Medical Genetics

68, Leningradskaya str., Pesochny village, Saint Petersburg, 197758

2, Litovskaya str., Saint Petersburg, 194100

A. V. Tumakova
St. Petersburg State Pediatric Medical University
Russian Federation

Anastasia V. Tumakova, Acting Head of the Laboratory of Molecular Diagnostics with an extended group of Ecogenetics

2, Litovskaya str., Saint Petersburg, 194100

E. V. Belogubova
NMRC of Oncology named after N.N. Petrov
Russian Federation

Evgenia V. Belogubova, Cand. of Sci. (Biology), Junior Researcher, Laboratory of Molecular Oncology

68, Leningradskaya str., Pesochny village, Saint Petersburg, 197758

S. N. Aleksakhina
NMRC of Oncology named after N.N. Petrov
Russian Federation

Svetlana N. Aleksakhina, Cand. of Sci. (Biology), Senior Researcher, Laboratory of Molecular Oncology

68, Leningradskaya str., Pesochny village, Saint Petersburg, 197758

A. V. Togo
NMRC of Oncology named after N.N. Petrov
Russian Federation

Alexandr V. Togo, Cand. of Sci. (Biology), Leading Researcher, Laboratory of Molecular Oncology

68, Leningradskaya str., Pesochny village, Saint Petersburg, 197758

E. N. Imyanitov
NMRC of Oncology named after N.N. Petrov; St. Petersburg State Pediatric Medical University; North-Western State Medical University named after I.I. Mechnikov
Russian Federation

Evgeny N. Imyanitov, Doctor of Sci. (Medicine), Professor, corresponding member of the RAS, Head of the Scientific Department of Tumor Growth Biology; Head of the Department of General and Molecular Medical Genetics; Professor, Department of Oncology

68, Leningradskaya str., Pesochny village, Saint Petersburg, 197758

+7 (901) 302-37-07


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