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BRCA1 gene is critical for blood forming stem cells.

DALLAS, Texas, January 24, 2017 -- Researchers here have found that the BRCA1 gene is required for the survival of blood forming stem cells, which could explain why patients with BRCA1 mutations do not have an elevated risk for leukemia.

The stem cells die before they have an opportunity to transform into a blood cancer.

"One of the great mysteries in cancer research is why inherited mutations, such as those in BRCA1, cause cancer only in specific tissues such as the breast and ovaries, rather than in all tissues. Our data suggest a 'die or transform' hypothesis, which could explain this tissue specificity," said Theodora Ross of the Harold C. Simmons Comprehensive Cancer Center.

Ross's lab investigates how cells transform from normal cells to cancer cells, and how some cancer cells are able to withstand specifically targeted cancer drugs.

Among her main avenues of research is the BRCA1 gene, which--when abnormal--predisposes women to breast and ovarian cancer.

Data from the current study also suggest why these patients may have a tougher time with the side effects of chemotherapy.

Patients with certain BRCA1 mutations may be at a higher than expected risk for serious complications during chemotherapy treatment.

If the findings are proven in upcoming studies, giving patients preventative antibiotics or growth factors may be necessary to lower this increased risk of treatment side effects.

According to the National Cancer Institute, more than 246,660 women will be diagnosed with breast cancer and 22,280 women will be diagnosed with ovarian cancer this year.

Of these, about 10-15 percent are estimated to be affected by BRCA1 and BRCA2 genetic mutations.

The data also illustrate why rare variations in the BRCA1 gene are not always mutations that put women and men at high risk for specific cancers.

Most of the rare "spellings" of the BRCA1 gene that are variations of undetermined significance are not harmful.

Citation: Victoria E. Mgbemena et al., "Distinct Brca1 Mutations Differentially Reduce Hematopoietic Stem Cell Function," volume 18, issue 4, p947-960, 24 January 2017, DOI: 10.1016/j.celrep.2016.12.075


Contact: Theodora S. Ross,

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Title Annotation:Basic Research
Publication:Stem Cell Research News
Date:Feb 13, 2017
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