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2016 ; 6
(ä): 68
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Heritable Cancer Syndromes Related to the Hypoxia Pathway
#MMPMID27047799
Henegan JC Jr
; Gomez CR
Front Oncol
2016[]; 6
(ä): 68
PMID27047799
show ga
Families of tumor-suppressor genes, such as those involved in homologous
recombination or mismatch repair, contain individual genes implicated in
hereditary cancer syndromes. Collectively, such groupings establish that
inactivating germline changes in genes within pathways related to genomic repair
can promote carcinogenesis. The hypoxia pathway, whose activation is associated
with aggressive and resistant sporadic tumors, is another pathway in which
tumor-suppressor genes have been identified. von Hippel-Lindau disease, some of
the hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes, and the
syndrome of hereditary leiomyomatosis and renal cell carcinoma are heritable
conditions associated with genes involved or associated with the hypoxia pathway.
This review links these heritable cancer syndromes to the hypoxia pathway while
also comparing the relative aggression and treatment resistance of
syndrome-associated tumors to similar, sporadic tumors. The reader will become
aware of shared phenotypes (e.g., PGL/PCC, renal cell carcinoma) among these
three hypoxia-pathway-associated heritable cancer syndromes as well as the known
associations of tumor aggressiveness and treatment resistance within these
pathways.
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