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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.abstract
Unfurling the Genetic Map of Sarcomas
Abstract
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.
- ©2016 American Association for Cancer Research.
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