general_pathology:neoplasia:neoplasia

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What does haploinsufficiency mean?

The loss of function in one allele is sufficient to develop neoplasia

Cumulative mutations resulting in the loss of function of both alleles

A chromosomal aberration resulting in partial loss of a chromosome

Three copies of a gene resulting in propensity to develop neoplasia

Haploinsufficiency - when the loss of one normal allele of a tumour suppressor gene is sufficient to develop neoplasia even with a functionally normal allele. “Haplo” = single.

Classic example is p53 - loss of function of 1 allele significantly increases the chance of neoplasia.