BAK1 gene variation and abdominal aortic aneurysms—results may have been prematurely overrated

@article{Kry2010BAK1GV,
  title={BAK1 gene variation and abdominal aortic aneurysms—results may have been prematurely overrated},
  author={S{\'e}bastien K{\"u}ry and Fabrice Airaud and Philippe Piloquet and St{\'e}phane B{\'e}zieau},
  journal={Human Mutation},
  year={2010},
  volume={31},
  pages={1174 - 1176}
}
We have read with much interest the article Gottlieb et al. [2009] about BAK1 (MIM♯ 600516), as well as the epistolary exchange with Dr. Hatchwell that followed [Gottlieb et al., 2010; Hatchwell, 2010]. Our reading was all the more careful that the message delivered by the authors was strong, and was largely echoed and amplified in many scientific and nonscientific journals. Much noise was made about this article presented as a revolution in genetics, hanging a question mark over the dogma of a… 
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An article published in Human Mutation by Gottlieb et al. [2009] received much attention for the reported observation of tissue-specific polymorphic differences in the BAK1 genotype among abdominal
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A Response to : BAK 1 Gene Variation and Abdominal Aortic Aneurysms — Results May Have Been Prematurely
  • 2010
Human MutationLETTER TO THE EDITORS BAK 1 Gene Variation and Abdominal Aortic Aneurysms — Results May Have Been Prematurely
  • 2010

References

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BAK1 gene variation and abdominal aortic aneurysms
TLDR
The fact that different BAK1 variants can exist in both diseased and nondiseased AA tissues compared to matching blood samples, together with the rare occurrence of these same SNPs in reference sequences, suggests that selection may be a significant factor in AAA ontogeny.
BAK1 gene variation and abdominal aortic aneurysms—Variants are likely due to sequencing of a processed gene on chromosome 20
TLDR
The coincidence of sequence variants between the chromosome 20 processed gene and the chromosome 6 BAK1 sequence suggests that the findings reported are artefactual and do not represent true sequence difference between AA/AAA tissue and blood.
KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression
TLDR
It is demonstrated that KRAS and BRAF are alternative events in Tis and T1 MSS CRC and, KRAS rather than BRAF mutations, contributed to the progression of MSS HRC, suggesting that activation of both genes is likely to harbour a synergistic effect.