Scientists have found some interesting things about DNA damage repair genes in people with oral cancer in Pakistan. They looked at five specific genes: TP53, ATR, ATM, CHEK1, and CHEK2. Using advanced tools, they found 42 mutations, with some being completely new. Out of these, 28 were nonsynonymous single nucleotide variations (SNVs).

The gene TP53 had the most mutations, followed by ATM, ATR, CHEK1, and CHEK2. Nine of these mutations were found to be highly harmful. Tools like SAAFEQ-SEQ and ISPRED-SEQ were used to predict how these mutations might affect the proteins they code for.

The gyration radius for all IS SNVs was larger for mutant proteins compared to the normal ones, suggesting that the mutant proteins might not fold properly. This could lead to structural changes in the proteins, which were noted by RMSD for mutant and wild type. The TP53 IS mutations included TP53

p. R116Q

, TP53 

p. C110Y

, TP53

p. R43H

, TP53

p. E214X

, TP53

p. R210X

, TP53 

p. C110Afs*5

 and TP53 

p, S108Ffs*23

 whereas ATR and CHEK1 IS mutations consist of ATR

p. M1932T

 and CHEK1

p. E76Kfs*21

.

ConSurf analysis showed that four SNVs had a high conservation score on TP53 and ATM. The mutation TP53

p. P33R

 was commonly found in moderately differentiated tumors, naswar users, and those with a family history of cancer. The mutations TP53

p. P33R

, ATR

p. M211T

 and CHEK1

p. I437V

 were found in many patients, suggesting they could be useful as biomarkers for local screening.

It's important to note that these findings could help in developing better screening methods and treatments for oral cancer in Pakistan. However, more research is needed to fully understand the implications of these mutations.

DNA Damage Repair Genes: Unveiling Pakistan's Oral Cancer Secrets

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