Mitochondrial Genome Sequencing from Nipple Aspirate Fluid
Author Information
Author(s): Jakupciak John P, Maggrah Andrea, Maragh Samantha, Maki Jennifer, Reguly Brian, Maki Katrina, Wittock Roy, Robinson Kerry, Wagner Paul D, Thayer Robert E, Gehman Ken, Gehman Teresa, Srivastava Sudhir, Ngom Alioune, Dakubo Gabriel D, Parr Ryan L
Hypothesis
Can nipple aspirate fluid (NAF) be used to detect somatic mutations in the mitochondrial genome as a potential tool for breast cancer screening?
Conclusion
NAF is a suitable material for mtDNA sequence analysis, and somatic mutations in NAF could indicate a risk for breast cancer.
Supporting Evidence
- NAF was successfully recovered from 23 out of 28 women, indicating a high recovery rate.
- Sequencing showed 99.999% identity between MCv2 data and capillary electrophoresis results.
- Four NAF samples contained somatic mutations not present in matched blood samples.
- The study represents the largest number of NAF samples sequenced for mitochondrial genome analysis.
Takeaway
Doctors can use a fluid from the nipple to look for tiny changes in DNA that might show if someone is at risk for breast cancer.
Methodology
NAF and blood samples were collected from women with benign breast conditions, and the mitochondrial genome was sequenced using the MCv2 array and capillary electrophoresis.
Limitations
The study's findings need to be confirmed in a larger cohort with clinical follow-up.
Participant Demographics
Participants were symptomatic women referred for clinical breast examination, with a range of ages and family histories of breast cancer.
Digital Object Identifier (DOI)
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