Familial aspects of haematological malignancy

Catherine Carmichael, Hamish Scott

Research output: Contribution to journalReview ArticleResearchpeer-review


The study of inherited predisposition to cancer provides the unique opportunity to identify key driver genes in oncogenesis that are likely to play important roles in the more common sporadic forms of disease. Inherited predisposition to malignancies, such as colon, breast and ovarian cancer have been well established. It has also long been accepted that several inherited syndromes, such as Fanconi Anaemia, are associated with an increased risk for haematological malignancy. However, inherited predisposition to a purely haematological malignancy, without associated syndromic features, has only recently become widely accepted. To date, only three genes have been shown to be causative of these predispositions, however in the majority of families studied, the causative mutation remains elusive. The Australian Familial Haematological Cancer Study is strategically identifying and collecting Australian families with inherited predisposition to a specific haematological malignancy. The identification and study of these families is integral to the study of haematological malignancy, as knowledge of the gene/s mutated and the subsequent disease progression in affected individuals will provide important insight into the mechanisms of leukemogenesis in the more common sporadic cases. This review will primarily discuss the familial aspects of pure haematological malignancy, however the syndromic causes will also be briefly addressed.

Original languageEnglish
Pages (from-to)160-164
Number of pages5
JournalCancer Forum
Issue number3
Publication statusPublished - 1 Nov 2007
Externally publishedYes

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