What Does BRCA1 Cause Cancer?

Common tumors are often caused by mutations in the genes that may potentially lead to varying protein structures, which do not correlate with their proper functions (1). Majority of these mutations arise as a result of substituting one nucleotide base pair for another, but a significant number are also from adding or removing one of more of these nucleotides that ultimately disrupts protein translation (1). One of the mutated genes linked to cancer is BRCA1 (2,3,4). BRCA1 stops tumor growth by suppressing the cell’s progression further into the cell cycle especially at G1 and G2 checkpoints (2). Missense mutations observed and studied in BRCA1 allowed researchers to believe that BRCA1 plays a role in turning on transcription for many other genes involved in regulating cell proliferation (2). …show more content…
While many mutations in the BRCA1 gene had been identified, not much information is available on how such mutations affect protein function (4). As a result, it is difficult to judge whether a certain mutation is harmful or relatively benign (4). Currently, it is possible to get screened for BRCA1 mutation yet many people do not receive definite results because not much information is known about their certain gene mutation (4). Of those mutations whose effects are known, frameshift mutations from deleting or inserting as little as eleven amino acids can lead to a higher risk for breast cancer (3). However, deletions and insertions are especially hard to asses as not much information is available on how these mutations affect protein function