Article
BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.
Human molecular genetics - 15 May 2016
Thirthagiri Eswary, Klarmann Kimberly D, Shukla Anil K, Southon Eileen, Biswas Kajal, Martin Betty K, North Susan Lynn, Magidson Valentin, Burkett Sandra, Haines Diana C, Noer Kathleen, Matthai Roberta, Tessarollo Lino, Loncarek Jadranka, Keller Jonathan R, Sharan Shyam K
Abstract excerpt
The breast cancer gene, BRCA2, is essential for viability, yet patients with Fanconi anemia-D1 subtype are born alive with biallelic mutations in this gene. The hypomorphic nature of the mutations is believed to support viability, but this is not always apparent. One such mutation is IVS7+2T>G, which causes premature protein truncation due to skipping of exon 7. We previously identified a transcript lacking exons...
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