Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers
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View abstract on PubMed
Summary
This summary is machine-generated.Researchers identified RAD17 as a potential new gene linked to hereditary breast and pancreatic cancer risk. This finding may improve genetic testing for families with a history of both cancers.
Area Of Science
- Genetics
- Oncology
- Molecular Biology
Background
- Familial pancreatic cancer accounts for 10% of cases, with one-third linked to known predisposition genes.
- Genetic studies are hampered by high mortality rates in affected individuals.
- Shared genetic risks exist between pancreatic and breast cancers, notably involving BRCA2, PALB2, ATM, and BRCA1.
Purpose Of The Study
- To investigate shared genetic etiologies in families with both breast and pancreatic cancer.
- To identify novel cancer predisposition genes within DNA Damage Repair (DDR) pathways.
Main Methods
- Utilized next-generation sequencing on a multigene panel of 276 DDR genes.
- Analyzed 41 families with multiple breast cancer cases and at least one pancreatic cancer case.
- Tested relatives when the index pancreatic cancer patient was deceased.
Main Results
- Identified 27 variants of uncertain significance in DDR genes.
- Highlighted a splice site variant (c.1605+2T>A) in RAD17 as a likely loss-of-function mutation.
- RAD17 plays a role in DNA double-strand break repair signaling via the MRN complex.
Conclusions
- RAD17 is proposed as a novel candidate gene for predisposition in families with both breast and pancreatic cancer.
- Further research is needed to confirm the pathogenicity of RAD17 variants.
- Additional DDR genes may also contribute to shared cancer risks.
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