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Article: Breast Cancer-Related Low Penetrance Genes.

Kang, Daehee / Choi, Ji-Yeob

Advances in experimental medicine and biology

2021 Volume 1187, Page(s) 419–434

Abstract: Susceptibility genes involved in disease etiology and prognosis are categorized into two groups: high penetrance genes (i.e., BRCA1, CHEK2, ATM, etc.) and low penetrance genes (i.e., NATs, GSTs, CYPs, etc., and variants identified by genome-wide ... ...

Abstract	Susceptibility genes involved in disease etiology and prognosis are categorized into two groups: high penetrance genes (i.e., BRCA1, CHEK2, ATM, etc.) and low penetrance genes (i.e., NATs, GSTs, CYPs, etc., and variants identified by genome-wide association studies). Since low penetrance genes have high population attributable risk, the usefulness of those genes to research on breast cancer prevention is not small. In this chapter, the previous studies on low-penetrance genetic susceptibility through a candidate gene approach and genome-wide association of breast cancer were summarized. The contribution of low-penetrance susceptibility genes to the breast cancer risk prediction models will also be discussed on the utility in clinical or public health application.
MeSH term(s)	Breast Neoplasms/genetics ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Penetrance
Language	English
Publishing date	2021-05-13
Publishing country	United States
Document type	Journal Article
ISSN	2214-8019 ; 0065-2598
ISSN (online)	2214-8019
ISSN	0065-2598
DOI	10.1007/978-981-32-9620-6_22
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Article ; Online: Genome-Wide Interaction Study of Dietary Intake and Colorectal Cancer Risk in the UK Biobank.

Hoang, Tung / Cho, Sooyoung / Choi, Ji-Yeob / Kang, Daehee / Shin, Aesun

JAMA network open

2024 Volume 7, Issue 2, Page(s) e240465

Abstract: Importance: Candidate gene analysis approaches have shown that colorectal cancer (CRC) risk attributable to diet may differ according to genotype. A genome-wide approach further allows for the exploration of underlying pathways for associations between ... ...

Abstract	Importance: Candidate gene analysis approaches have shown that colorectal cancer (CRC) risk attributable to diet may differ according to genotype. A genome-wide approach further allows for the exploration of underlying pathways for associations between diet and CRC risk across the genome. Objectives: To identify genetic variants that modify diet-CRC associations and to further explore the underlying pathways in the cause of CRC. Design, setting, and participants: This nested case-control study used data on White British participants from the prospective cohort UK Biobank. Participants were recruited between March 13, 2006, and October 1, 2010, and data were censored June 25, 2021. Exposures: The average frequency intake of 11 dietary factors in the year preceding baseline was obtained via a touchscreen questionnaire. After quality control for more than 93 million variants of imputed genetic data, 4 122 345 variants remained. Main outcomes and measures: Colorectal cancer cases were identified according to the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision. Genome-wide interaction analysis was performed to test interactions between dietary factors and variants using a conditional logistic regression model. Summary statistics of interactions at the variant level were used to calculate empirical P values for interactions at gene and gene-set levels in gene-based and gene-set enrichment analyses. Results: A total of 4686 participants with CRC (mean [SD] age, 60.7 [6.6] years; 2707 men [57.8%]) received a new diagnosis during a median of 12.4 years (IQR, 11.6-13.1 years) of follow-up. Once a case was detected, 3 matched controls were identified, for a total of 14 058 controls (mean [SD] age, 60.4 [6.6] years; 8121 men [57.8%]). A total of 324 variants were identified that interacted with diet consumption at the suggestive threshold (P < 1 × 10-5). In gene-based analysis, aggregation of multiple EPDR1 gene variants was found to interact with fish intake regarding CRC risk. Furthermore, gene-set enrichment analysis found that several sets of protein-coding genes, which were overrepresented with particular functions and pathways, interacted with the consumption of milk (ART), cheese (OR), tea (KRT), and alcohol (PRM and TNP). Conclusions and relevance: In this nested case-control study, the risk of CRC associated with fish intake was modified by multiple single-nucleotide polymorphisms of the EPDR1 gene. The findings further suggested possible functions and pathways that might link the consumption of milk, cheese, tea, and alcohol with CRC development.
MeSH term(s)	Animals ; Male ; Humans ; Middle Aged ; Biological Specimen Banks ; Case-Control Studies ; Prospective Studies ; UK Biobank ; Ethanol ; Eating ; Colorectal Neoplasms/epidemiology ; Colorectal Neoplasms/genetics ; Tea
Chemical Substances	Ethanol (3K9958V90M) ; Tea
Language	English
Publishing date	2024-02-05
Publishing country	United States
Document type	Journal Article
ISSN	2574-3805
ISSN (online)	2574-3805
DOI	10.1001/jamanetworkopen.2024.0465
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Article ; Online: Association of menopausal hormone therapy with gastric and colorectal cancer risks in Korean women: A nationwide population-based cohort study.

Baek, Chaewon / Kim, Ji-Eun / Shin, Aesun / Choi, Ji-Yeob

Maturitas

2022 Volume 166, Page(s) 35–40

Abstract: Background: Menopausal hormone therapy (MHT) has been associated with a decreased risk of gastric cancer (GC) and colorectal cancer (CRC); however, few studies have been conducted in diverse ethnic groups, particularly in the Asian population. Therefore, ...

Abstract	Background: Menopausal hormone therapy (MHT) has been associated with a decreased risk of gastric cancer (GC) and colorectal cancer (CRC); however, few studies have been conducted in diverse ethnic groups, particularly in the Asian population. Therefore, the current study evaluated if MHT is inversely associated with GC and CRC in East Asia using a representative population-based study in Korea. Methods: This retrospective cohort study was conducted using the National Health Insurance Service-National Sample Cohort 2.0 in South Korea from 2002 to 2015. A total of 196,095 women aged ≥40 years were included in the study. The numbers of participants who did and did not use MHT were 19,063 (9.7 %) and 177,032 (90.3 %), respectively. Hazard ratios (HRs) and the corresponding 95 % confidence intervals (CIs) were estimated using a time-dependent Cox proportional hazards model. Age was considered as a time scale, and other confounding factors, including income levels based on insurance premiums, region of residence, and comorbidities, were included in the multivariable-adjusted model. Results: The total number of incident cases of GC and CRC were 1339 (0.68 %) and 1428 (0.73 %), respectively. We observed an inverse association of the use of estrogen replacement therapy (ERT; estrogen-containing therapy regardless of other regimen types) with GC [HR (95 % CI):0.68 (0.51-0.90)], CRC [0.57 (0.42-0.78)] and gastrointestinal cancer [GI, 0.63 (0.51-0.77)]. In the analyses by CRC subsite, the risks of both colon and rectal cancers were associated with ERT. In addition, both estrogen and combined estrogen and progestogen regimens were significantly associated with CRC and GI cancer. Conclusion: ERT was associated with a decreased risk of GC and CRC. Our findings support the protective effect of estrogen against GC and CRC in Korean women.
MeSH term(s)	Humans ; Female ; Cohort Studies ; Risk Factors ; Retrospective Studies ; Estrogen Replacement Therapy/adverse effects ; Estrogens ; Colorectal Neoplasms/epidemiology ; Colorectal Neoplasms/etiology ; Colorectal Neoplasms/prevention & control ; Menopause
Chemical Substances	Estrogens
Language	English
Publishing date	2022-08-27
Publishing country	Ireland
Document type	Journal Article
ZDB-ID	80460-5
ISSN	1873-4111 ; 0378-5122
ISSN (online)	1873-4111
ISSN	0378-5122
DOI	10.1016/j.maturitas.2022.08.006
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Article ; Online: Adherence to the World Cancer Research Fund/American Institute for Cancer Research and Korean Cancer Prevention Guidelines and cancer risk: a prospective cohort study from the Health Examinees-Gem study.

Lee, Jeeyoo / Shin, Aesun / Shin, Woo-Kyoung / Choi, Ji-Yeob / Kang, Daehee / Lee, Jong-Koo

Epidemiology and health

2023 Volume 45, Page(s) e2023070

Abstract: Objectives: The purpose of this study was to explore the association between adherence to 2 cancer prevention recommendations and cancer risk.: Methods: In total, 104,386 individuals aged 40-69 years old who were recruited between 2004 and 2013 in ... ...

Abstract	Objectives: The purpose of this study was to explore the association between adherence to 2 cancer prevention recommendations and cancer risk. Methods: In total, 104,386 individuals aged 40-69 years old who were recruited between 2004 and 2013 in the Health Examinees-Gem study were included. Adherence scores were constructed based on 8 items from the World Cancer Research Fund/American Institute for Cancer Research (WCRF/AICR) cancer prevention recommendations, including body weight, physical activity, diet, alcohol consumption and breastfeeding, and on 6 items from the Korean cancer prevention guidelines (smoking status, eating vegetables and fruits, salty foods, alcohol intake, physical activity, and body weight). A Cox proportional hazards model was used to estimate the associations between adherence scores and the risk of total and 5 major cancers. Results: The multivariable hazard ratio (HR) for total cancer with the high adherence score versus the lowest score (4.25-7.00 vs. 0.00-3.25) for the WCRF/AICR guidelines was 0.91 (95% confidence interval [CI], 0.82 to 1.00) in men. A reduced breast cancer risk was observed among women with the highest score. Men within the highest category of the Korean cancer prevention guideline score (3.25-6.00) had an HR of 0.80 (95% CI, 0.73 to 0.88) for developing total cancer compared to men within the lowest score (0.00-2.50). The higher adherence group among men showed lower risks of developing stomach, colorectal, and lung cancers. Conclusions: Adhering to guidelines for cancer prevention can help to reduce the risk of developing cancer in Korean men. The association might differ by cancer type and gender.
MeSH term(s)	Male ; Humans ; Female ; United States ; Adult ; Middle Aged ; Aged ; Risk Factors ; Prospective Studies ; Diet ; Breast Neoplasms ; Body Weight ; Republic of Korea/epidemiology
Language	English
Publishing date	2023-08-01
Publishing country	Korea (South)
Document type	Journal Article
ZDB-ID	2590698-7
ISSN	2092-7193 ; 2092-7193
ISSN (online)	2092-7193
ISSN	2092-7193
DOI	10.4178/epih.e2023070
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Article ; Online: Assessments of dietary intake and polygenic risk score in associations with colorectal cancer risk: evidence from the UK Biobank.

Hoang, Tung / Cho, Sooyoung / Choi, Ji-Yeob / Kang, Daehee / Shin, Aesun

BMC cancer

2023 Volume 23, Issue 1, Page(s) 993

Abstract: Background: This study aimed to explore the potential interaction between dietary intake and genetics on incident colorectal cancer (CRC) and whether adherence to healthy dietary habits could attenuate CRC risk in individuals at high genetic risk.: ... ...

Abstract	Background: This study aimed to explore the potential interaction between dietary intake and genetics on incident colorectal cancer (CRC) and whether adherence to healthy dietary habits could attenuate CRC risk in individuals at high genetic risk. Methods: We analyzed prospective cohort data of 374,004 participants who were free of any cancers at enrollment in UK Biobank. Dietary scores were created based on three dietary recommendations of the World Cancer Research Fund (WCRF) and the overall effects of 11 foods on CRC risks using the inverse-variance (IV) method. Genetic risk was assessed using a polygenic risk score (PRS) capturing overall CRC risk. Cox proportional hazard models were used to calculate hazard ratios (HRs) and 95% CIs (confidence intervals) of associations. Interactions between dietary factors and the PRS were examined using a likelihood ratio test to compare models with and without the interaction term. Results: During a median follow-up of 12.4 years, 4,686 CRC cases were newly diagnosed. Both low adherence to the WCRF recommendations (HR = 1.12, 95% CI = 1.05-1.19) and high IV-weighted dietary scores (HR = 1.27, 95% CI = 1.18-1.37) were associated with CRC risks. The PRS of 98 genetic variants was associated with an increased CRC risk (HR Conclusion: Dietary habits and the PRS were independently associated with CRC risks. Adherence to healthy dietary habits may exert beneficial effects on CRC risk reduction in individuals at high genetic risk.
MeSH term(s)	Humans ; Colorectal Neoplasms/etiology ; Colorectal Neoplasms/genetics ; Prospective Studies ; Biological Specimen Banks ; Life Style ; Risk Factors ; Diet ; Eating ; United Kingdom/epidemiology
Language	English
Publishing date	2023-10-18
Publishing country	England
Document type	Journal Article
ZDB-ID	2041352-X
ISSN	1471-2407 ; 1471-2407
ISSN (online)	1471-2407
ISSN	1471-2407
DOI	10.1186/s12885-023-11482-1
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Article ; Online: A time-dependent subdistribution hazard model for major dental treatment events in cancer patients: a nationwide cohort study.

Han, Areum / Park, Eun-Gee / Yoon, Jeong-Hwa / Choi, Ji-Yeob / Park, Hee-Kyung / Hahn, Seokyung

BMC oral health

2023 Volume 23, Issue 1, Page(s) 64

Abstract: Background: Dental care in cancer patients tends to be less prioritized. However, limited research has focused on major dental treatment events in cancer patients after the diagnosis. This study aimed to examine dental treatment delays in cancer ... ...

Abstract	Background: Dental care in cancer patients tends to be less prioritized. However, limited research has focused on major dental treatment events in cancer patients after the diagnosis. This study aimed to examine dental treatment delays in cancer patients compared to the general population using a national claims database in South Korea. Method: The Korea National Health Insurance Service-National Sample Cohort version 2.0, collected from 2002 to 2015, was analyzed. Treatment events were considered for stomatitis, tooth loss, dental caries/pulp disease, and gingivitis/periodontal disease. For each considered event, time-dependent hazard ratios and associated 95% confidence intervals were calculated by applying a subdistribution hazard model with time-varying covariates. Mortality was treated as a competing event. Subgroup analyses were conducted by type of cancer. Results: The time-dependent subdistribution hazard ratios (SHRs) of stomatitis treatment were greater than 1 in cancer patients in all time intervals, 2.04 within 30 days after cancer diagnosis, and gradually decreased to 1.15 after 5 years. The SHR for tooth loss was less than 0.70 within 3 months after cancer diagnosis and increased to 1 after 5 years. The trends in SHRs of treatment events for other dental diseases were similar to those observed for tooth loss. Subgroup analyses by cancer type suggested that probability of all dental treatment event occurrence was higher in head and neck cancer patients, particularly in the early phase after cancer diagnosis. Conclusion: Apart from treatments that are associated with cancer therapy, dental treatments in cancer patients are generally delayed and cancer patients tend to refrain from dental treatments. Consideration should be given to seeking more active and effective means for oral health promotion in cancer patients.
MeSH term(s)	Humans ; Cohort Studies ; Tooth Loss/epidemiology ; Dental Caries/epidemiology ; Proportional Hazards Models ; Neoplasms/complications ; Neoplasms/therapy ; Stomatitis ; Dental Care
Language	English
Publishing date	2023-02-02
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2091511-1
ISSN	1472-6831 ; 1472-6831
ISSN (online)	1472-6831
ISSN	1472-6831
DOI	10.1186/s12903-023-02723-7
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Article ; Online: Network Analysis in Systems Epidemiology.

Park, JooYong / Choi, Jaesung / Choi, Ji-Yeob

Journal of preventive medicine and public health = Yebang Uihakhoe chi

2021 Volume 54, Issue 4, Page(s) 259–564

Abstract: Traditional epidemiological studies have identified a number of risk factors for various diseases using regression-based methods that examine the association between an exposure and an outcome (i.e., one-to-one correspondences). One of the major ... ...

Abstract	Traditional epidemiological studies have identified a number of risk factors for various diseases using regression-based methods that examine the association between an exposure and an outcome (i.e., one-to-one correspondences). One of the major limitations of this approach is the "black-box" aspect of the analysis, in the sense that this approach cannot fully explain complex relationships such as biological pathways. With high-throughput data in current epidemiology, comprehensive analyses are needed. The network approach can help to integrate multi-omics data, visualize their interactions or relationships, and make inferences in the context of biological mechanisms. This review aims to introduce network analysis for systems epidemiology, its procedures, and how to interpret its findings.
MeSH term(s)	Epidemiology ; Humans ; Network Meta-Analysis
Language	English
Publishing date	2021-07-07
Publishing country	Korea (South)
Document type	Journal Article ; Review
ZDB-ID	2620879-9
ISSN	2233-4521 ; 2233-4521
ISSN (online)	2233-4521
ISSN	2233-4521
DOI	10.3961/jpmph.21.190
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Article ; Online: Effects of Endocrine Therapy on Cardiovascular Diseases and Type 2 Diabetes Among Breast Cancer Survivors: The National Health Insurance Service Database of Korea.

Kim, Ji-Eun / Choi, Jaesung / Park, JooYong / Han, Wonshik / Kang, Daehee / Choi, Ji-Yeob

Journal of the American Heart Association

2022 Volume 11, Issue 20, Page(s) e026743

Abstract: Background Although endocrine therapy is an effective treatment for breast cancer, its antiestrogen effects are associated with increased risks of cardiovascular diseases and type 2 diabetes. This study aimed to investigate the association between ... ...

Abstract	Background Although endocrine therapy is an effective treatment for breast cancer, its antiestrogen effects are associated with increased risks of cardiovascular diseases and type 2 diabetes. This study aimed to investigate the association between endocrine therapy and the risk of cardiovascular diseases and type 2 diabetes among breast cancer survivors in Korea, in consideration of various age groups. Methods and Results In the National Health Insurance Service database of Korea, a total of 133 171 patients with breast cancer aged ≥20 years were included in the current study. Endocrine therapy was treated as time-varying exposure, and patients were categorized as nonusers, selective estrogen receptor modulator users, aromatase inhibitor users, and both users. Time-dependent Cox regression models were used to estimate hazard ratios (HRs) and 95% CIs. Age at diagnosis, socioeconomic status, histological type, other treatments, and comorbidities were adjusted in the model. Compared with nonusers, selective estrogen receptor modulator users were associated with higher risks of stroke (HR, 1.20 [95% CI, 1.04-1.40]) and venous thromboembolism (HR, 1.47 [95% CI, 1.13-1.90]), whereas aromatase inhibitor users were associated with a higher risk of coronary heart disease (HR, 1.22 [95% CI, 1.06-1.41]). The risk of type 2 diabetes was associated with selective estrogen receptor modulator users (HR, 1.13 [95% CI, 1.05-1.21]), aromatase inhibitor users (HR, 1.14 [95% CI, 1.05-1.23]), and both users (HR, 1.24 [95% CI, 1.10-1.39]). In particular, the risk of a composite of cardiovascular diseases was higher in younger or premenopausal patients. Conclusions In breast cancer survivors in Korea, endocrine therapy is associated with a higher risk of cardiovascular diseases and type 2 diabetes. Monitoring of cancer comorbidities after endocrine therapy is needed in younger and older patients.
MeSH term(s)	Humans ; Female ; Aromatase Inhibitors/adverse effects ; Breast Neoplasms/drug therapy ; Breast Neoplasms/epidemiology ; Cancer Survivors ; Tamoxifen/adverse effects ; Cardiovascular Diseases/epidemiology ; Cardiovascular Diseases/chemically induced ; Diabetes Mellitus, Type 2/drug therapy ; Diabetes Mellitus, Type 2/epidemiology ; Diabetes Mellitus, Type 2/chemically induced ; Selective Estrogen Receptor Modulators ; National Health Programs
Chemical Substances	Aromatase Inhibitors ; Tamoxifen (094ZI81Y45) ; Selective Estrogen Receptor Modulators
Language	English
Publishing date	2022-10-17
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2653953-6
ISSN	2047-9980 ; 2047-9980
ISSN (online)	2047-9980
ISSN	2047-9980
DOI	10.1161/JAHA.122.026743
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Article ; Online: Impact of pre- and post-diagnosis physical activity on the mortality of patients with cancer: Results from the Health Examinees-G study in Korea.

Choi, Jaesung / Park, Joo-Yong / Kim, Ji-Eun / Lee, Miyoung / Lee, Kyuwan / Lee, Jong-Koo / Kang, Daehee / Shin, Aesun / Choi, Ji-Yeob

Cancer medicine

2023 Volume 12, Issue 15, Page(s) 16591–16603

Abstract: Background: Physical activity (PA) is recommended to improve the survival of cancer patients. However, the prognostic impact of specific PAs is not well understood. Therefore, we investigated the associations of the duration, type, intensity, and number ...

Abstract	Background: Physical activity (PA) is recommended to improve the survival of cancer patients. However, the prognostic impact of specific PAs is not well understood. Therefore, we investigated the associations of the duration, type, intensity, and number of PAs one participates in pre- and post-diagnosis with mortality in Korean patients with cancer. Methods: Among the participants aged 40-69 years recruited from the Health Examines study, those diagnosed with cancer after baseline (n = 7749) and within 10 years before baseline (n = 3008) were included in the analyses for pre- and post-diagnosis PA, respectively. Duration, intensity, type, and number of leisure-time physical activities participated in were assessed using questionnaires. The Cox proportional hazard model was used to characterize the association between PA and cancer-specific mortality, adjusting for demographics, behaviors, comorbidities, and cancer stage based on the Surveillance, Epidemiology, and End Results program. Results: Pre-diagnosis, patients participating in vigorous-intensity activities (hazard ratio [HR]: 0.70, 95% confidence interval [CI]: 0.61-0.82), walking (HR: 0.85, 95% CI: 0.74-0.97), climbing (HR: 0.65, 95% CI: 0.55-0.77), sports (HR: 0.39, 95% CI: 0.25-0.61), and more than two activities (HR: 0.73, 95% CI: 0.63-0.86) had significantly lower all-cause mortality. Importantly, these associations were only found in patients with colorectal cancer participating in vigorous-intensity activities (HR: 0.40, 95% CI: 0.23-0.70). Post-diagnosis, only patients who performed more than two activities (HR: 0.65, 95% CI: 0.44-0.95) had significantly lower all-cause mortality. Similar associations were found for cancer mortality, both pre- and post-diagnosis. Conclusion: Specific characteristics of PA pre- and post-diagnosis may influence the survival of cancer patients.
MeSH term(s)	Humans ; Cohort Studies ; Exercise ; Motor Activity ; Neoplasms/diagnosis ; Neoplasms/epidemiology ; Republic of Korea/epidemiology
Language	English
Publishing date	2023-06-14
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2659751-2
ISSN	2045-7634 ; 2045-7634
ISSN (online)	2045-7634
ISSN	2045-7634
DOI	10.1002/cam4.6253
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Article: Consumption of Coffee and Green Tea and the Risk of Colorectal Cancer in Korea: The Health Examinees Study.

Na, Hyuntak / Lee, Jeeyoo / Cho, Sooyoung / Shin, Woo-Kyoung / Choi, Ji-Yeob / Kang, Daehee / Shin, Aesun

Journal of cancer prevention

2023 Volume 27, Issue 4, Page(s) 229–238

Abstract: Coffee and green tea may affect colorectal physiology and contain many bioactive components, such as polyphenol and caffeine, which have antioxidant and anti-carcinogenic activities. However, the association between coffee and green tea consumption and ... ...

Abstract	Coffee and green tea may affect colorectal physiology and contain many bioactive components, such as polyphenol and caffeine, which have antioxidant and anti-carcinogenic activities. However, the association between coffee and green tea consumption and the risk of colorectal cancer (CRC) has been inconclusive. This study examined the association between coffee and green tea consumption and the risk of CRC in a large-scale prospective cohort study in Korea. Data from the Health Examinees study from 2004 to 2013 were analyzed, and 114,243 participants (39,380 men and 74,863 women) aged 40-79 years were included in the final analysis. A Cox proportional hazards regression model using age at time scale was used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) of coffee and green tea consumption for the risk of CRC by sex. In both men and women, no significant association was found between coffee and green tea consumption and the risk of CRC. Among women, there was a significant increase in the risk of colon cancer (HR, 1.66; 95% CI, 1.13-2.44) in the black coffee drinker group. Our findings suggest that consumption of coffee and green tea may not be associated with the CRC incidence in Korea; instead, the association may differ depending on cancer subsites and coffee types.
Language	English
Publishing date	2023-01-14
Publishing country	Korea (South)
Document type	Journal Article
ZDB-ID	3019805-7
ISSN	2288-3657 ; 2288-3649
ISSN (online)	2288-3657
ISSN	2288-3649
DOI	10.15430/JCP.2022.27.4.229
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