TY - JOUR
T1 - Intronic Variant of MUTYH Gene Exhibits A Strong Association with Early Onset of Breast Cancer Susceptibility in Indonesian Women Population
AU - Panigoro, Sonar Soni
AU - Listiyaningsih, Erlin
AU - Nurlaila, Ika
AU - Mahesworo, Bharuno
AU - Hidayat, Alam Ahmad
AU - Budiarto, Arif
AU - Sudigyo, Digdo
AU - Amirullah, Dian
AU - Simon, Simon
AU - Baurley, James
AU - Pardamean, Bens
N1 - Funding Information:
This study was jointly funded Bina by Nusantara University and Genetics Indonesia. This study protocol was approved by the ethic committees of Faculty of Medicine, University of Indonesia with the reference number of 450/UN2.F1/ETIK/2018. We do not register our dataset in order to assure safety of some sensitive information regarding clinical trials and meta-analysis.
Funding Information:
This study was jointly funded Bina by Nusantara University and Genetics Indonesia. This study protocol was approved by the ethic committees of Faculty of Medicine, University of Indonesia with the reference number of 450/UN2.F1/ETIK/2018.
Publisher Copyright:
© 2021. All Rights Reserved.
PY - 2021/12
Y1 - 2021/12
N2 - Objective: Several studies have recently indicated a huge shifting pattern toward early age onset cases in breast cancer (BC) patients. However, the studies exerted relatively limited to the Caucasian population. This preliminary study is aimed to investigate the genetic risk factors for young BC patients specifically in Indonesia population. Methods: DNA samples were extracted from 79 BC patients aged younger than 40 years old and 90 healthy samples. These DNA samples were sequenced using Illumina NextSeq 500 platform and preprocessed to extract the single-nucleotide polymorphisms (SNPs) data. Firstly, multiple univariate logistic regressions were performed to test the association between each SNP and BC incidence in young patients. Furthermore, to analyze the polygenic effects derived from multiple SNPs, we employed a multivariate logistics regression. Results: There were only 15 SNPs passed our 95% call rate threshold thus subsequently were used in the association test. One of these variants, rs3219493, emerged to be significantly associated with early-onset BC (p-value = 0.025, OR = 3.750, 95% CI = 1.178-11.938). This result is consistent with the multivariate logistic regression model, where the pertinent variant was found statistically significant (p-value = 0.008, OR = 8.398, 95% CI = 1.720-40.920). This variant was identified as an intronic variant within MUTYH gene which has been reported in several published studies to exhibit an association with the incidence of breast cancer in China, Italy and Sephardi Jews population. However, there is no evident this gene impacting the risk of developing early onset of BC in Indonesia population. Conclusion: Despite our limitation in terms of sample size analyzed in this preliminary study, our finding on significant association of intronic MUTHY with the early onset of BC in Indonesia led to a broadened insight of population-based unique aspect to being taken into an in-depth account for and advancement of chemotherapy.
AB - Objective: Several studies have recently indicated a huge shifting pattern toward early age onset cases in breast cancer (BC) patients. However, the studies exerted relatively limited to the Caucasian population. This preliminary study is aimed to investigate the genetic risk factors for young BC patients specifically in Indonesia population. Methods: DNA samples were extracted from 79 BC patients aged younger than 40 years old and 90 healthy samples. These DNA samples were sequenced using Illumina NextSeq 500 platform and preprocessed to extract the single-nucleotide polymorphisms (SNPs) data. Firstly, multiple univariate logistic regressions were performed to test the association between each SNP and BC incidence in young patients. Furthermore, to analyze the polygenic effects derived from multiple SNPs, we employed a multivariate logistics regression. Results: There were only 15 SNPs passed our 95% call rate threshold thus subsequently were used in the association test. One of these variants, rs3219493, emerged to be significantly associated with early-onset BC (p-value = 0.025, OR = 3.750, 95% CI = 1.178-11.938). This result is consistent with the multivariate logistic regression model, where the pertinent variant was found statistically significant (p-value = 0.008, OR = 8.398, 95% CI = 1.720-40.920). This variant was identified as an intronic variant within MUTYH gene which has been reported in several published studies to exhibit an association with the incidence of breast cancer in China, Italy and Sephardi Jews population. However, there is no evident this gene impacting the risk of developing early onset of BC in Indonesia population. Conclusion: Despite our limitation in terms of sample size analyzed in this preliminary study, our finding on significant association of intronic MUTHY with the early onset of BC in Indonesia led to a broadened insight of population-based unique aspect to being taken into an in-depth account for and advancement of chemotherapy.
KW - Breast cancer- MUTYH- early onset- Indonesia
UR - http://www.scopus.com/inward/record.url?scp=85123037116&partnerID=8YFLogxK
U2 - 10.31557/APJCP.2021.22.12.3985
DO - 10.31557/APJCP.2021.22.12.3985
M3 - Article
C2 - 34967580
AN - SCOPUS:85123037116
VL - 22
SP - 3985
EP - 3991
JO - Asian Pacific Journal of Cancer Prevention
JF - Asian Pacific Journal of Cancer Prevention
SN - 1513-7368
IS - 12
ER -
