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ICARE Newsletter Summer 2015

The Rapid Pace of Discovering More Inherited Cancer Genes Continues

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Over the last few months, a number of additional genes associated with inherited cancer predisposition have been identified. A few of these genes include: 1) the RECQL gene which appears to be another rare gene involved in inherited breast cancer1; 2) the SMAD9 gene associated with hamartomatous polyposis and ganglioneuromas of the intestinal tract2; 3) the FOCAD gene associated with polyposis and the development of colorectal cancer3; and 4) the Inositol Polyphosphate Multikinase (IPMK) gene involved in the development of intestinal carcinoids.4 These newly discovered genes require further study before they can be added to clinical tests widely offered to patients. 

Recently discovered genes that have started to be offered through clinical testing laboratories include those associated with colorectal cancers (GREM1, POLD1, and POLE), rhabdoid tumors (SMARCA4), and uveal and skin melanomas, as well as other cancers (BAP1).

These genes by no means represent a comprehensive list of new inherited cancer genes; rather they serve to highlight the rapid pace at which new cancer genes continue to be identified. We anticipate that next-generation sequencing technologies and new gene discoveries will continue to result in making new testing options more rapidly available. Consequently, it is important for individuals with personal and/or family histories suggestive of inherited cancer, where an underlying genetic reason has not yet been identified, to periodically check in with their healthcare providers to see if additional genetic testing may be available and/or warranted.

1.Cybulski C et al. Germline RECQL mutations are associated with breast cancer susceptibility. Nat Genet. 2015 Jun;47(6):643-6. PMID: 25915596.2.Ngeow J et al. Exome Sequencing Reveals Germline SMAD9 Mutation that Reduces PTEN Expression and is Associated with Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas. Gastroenterology. 2015 Jun 26. PMID: 26122142.3.Weren RD et al. Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development. J Pathol. 2015 Jun;236(2):155-164. PMID: 25712196.4.Sei Y et al. A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase. Gastroenterology. 2015 Jul;149(1):67-78. PMID: 25865046.

Permanent link to this article: https://inheritedcancer.net/2nls2015/