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Article overview
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BRCA Gene Mutations in dbSNP: A Visual Exploration of Genetic Variants | | Woowon Jang
; Shiwoo Koak
; Jiwon Im
; Utku Ozbulak
; Joris Vankerschaver
; | | Date: |
1 Sep 2023 | | Abstract: | BRCA genes, comprising BRCA1 and BRCA2 play indispensable roles in preserving
genomic stability and facilitating DNA repair mechanisms. The presence of
germline mutations in these genes has been associated with increased
susceptibility to various cancers, notably breast and ovarian cancers. Recent
advancements in cost-effective sequencing technologies have revolutionized the
landscape of cancer genomics, leading to a notable rise in the number of
sequenced cancer patient genomes, enabling large-scale computational studies.
In this study, we delve into the BRCA mutations in the dbSNP, housing an
extensive repository of 41,177 and 44,205 genetic mutations for BRCA1 and
BRCA2, respectively. Employing meticulous computational analysis from an
umbrella perspective, our research unveils intriguing findings pertaining to a
number of critical aspects. Namely, we discover that the majority of BRCA
mutations in dbSNP have unknown clinical significance. We find that, although
exon 11 for both genes contains the majority of the mutations and may seem as
if it is a mutation hot spot, upon analyzing mutations per base pair, we find
that all exons exhibit similar levels of mutations. Investigating mutations
within introns, while we observe that the recorded mutations are generally
uniformly distributed, almost all of the pathogenic mutations in introns are
located close to splicing regions (at the beginning or the end). In addition to
the findings mentioned earlier, we have also made other discoveries concerning
mutation types and the level of confidence in observations within the dbSNP
database. | | Source: | arXiv, 2309.00311 | | Services: | Forum | Review | PDF | Favorites | |
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