Personalized Systemic Therapies in Hereditary Cancer Syndromes

被引：9

作者：

Mastrodomenico, Luciana ^{[1
]}

Piombino, Claudia ^{[1
]}

Ricco, Beatrice ^{[1
]}

Barbieri, Elena ^{[1
]}

Venturelli, Marta ^{[1
]}

Piacentini, Federico ^{[1
,2
]}

Dominici, Massimo ^{[1
,2
]}

Cortesi, Laura ^{[1
]}

Toss, Angela ^{[1
,2
]}

机构：

[1] Azienda Osped Univ Modena, Dept Oncol & Hematol, I-41124 Modena, Italy

[2] Univ Modena & Reggio Emilia, Dept Med & Surg Sci, I-41124 Modena, Italy

来源：

GENES | 2023年 / 14卷 / 03期

关键词：

hereditary cancer syndromes; BRCA; PALB2; MMR/MSI; VHL; RET; personalized therapy; MULTIPLE ENDOCRINE NEOPLASIA; HYPOXIA-INDUCIBLE FACTORS; METASTATIC BREAST-CANCER; HIPPEL-LINDAU DISEASE; RELAPSED OVARIAN-CANCER; GERMLINE MUTATIONS; HEDGEHOG PATHWAY; DOUBLE-BLIND; OPEN-LABEL; THYROID-CANCER;

D O I：

10.3390/genes14030684

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hereditary cancer syndromes are inherited disorders caused by germline pathogenic variants (PVs) that lead to an increased risk of developing certain types of cancer, frequently at an earlier age than in the rest of the population. The germline PVs promote cancer development, growth and survival, and may represent an ideal target for the personalized treatment of hereditary tumors. PARP inhibitors for the treatment of BRCA and PALB2-associated tumors, immune checkpoint inhibitors for tumors associated with the Lynch Syndrome, HIF-2a inhibitor in the VHL-related cancers and, finally, selective RET inhibitors for the treatment of MEN2-associated medullary thyroid cancer are the most successful examples of how a germline PVs can be exploited to develop effective personalized therapies and improve the outcome of these patients. The present review aims to describe and discuss the personalized systemic therapies for inherited cancer syndromes that have been developed and investigated in clinical trials in recent decades.

引用

页数：33

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