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Friday, August 26, 2016

Gene testing in rare tumor type could uncover 'cancer families (sarcoma/BRCA...)

Science news

....They found that over half of 1,162 patients with sarcoma tested were born with mutations in at least one gene already known to increase cancer risk.
Some of the most common inherited mutations occurred in genes known to drive the development of multiple tumour types -- p53, APC, BRCA1 and BRCA2 -- putting these patients at increased risk of other cancers such as breast, ovarian or bowel cancer. When such mutations are found, families can be offered genetic counselling and screening, where appropriate....

 A fifth of the patients had mutations in more than one of the genes tested and, importantly, people with genetic errors in multiple cancer genes were found to be more likely to get cancer at a younger age than those with a single genetic mutation. This is the first evidence that multiple genetic mutations interacting could be causing sarcomas in some patients, rather than a single gene driving their disease.

Unfurling the Genetic Map of Sarcomas


An international team of researchers has uncovered multiple new germline mutations that may influence the development of sarcomas. Notably, they found that variants in several DNA damage sensing and repair genes contribute greatly to sarcoma risk, including BRCA2, ATM, ATR, and ERCC2.


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