Prospective Analysis of Oncogenic Driver Mutations and Environmental Factors: Japan Molecular Epidemiology for Lung Cancer Study

Kawaguchi, Tomoya; Koh, Yasuhiro; Ando, Masahiko; Ito, Norimasa; Takeo, Sadanori; Adachi, Hirofumi; Tagawa, Tetsuzo; Kakegawa, Seiichi; Yamashita, Motohiro; Kataoka, Kazuhiko; Ichinose, Yukito; Takeuchi, Yukiyasu; Serizawa, Masakuni; Tamiya, Akihiro; Shimizu, Shigeki; Yoshimoto, Noriko; Kubo, Akihito; Isa, Shun‐ichi; Sasaki, Hideo; Matsumura, Akira

doi:10.1200/jco.2015.64.2322

Cited by 104 publications

(77 citation statements)

References 27 publications

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“…2). The rate of false positive droplet events did not depend on the total amount of DNA (data not shown, Taly et al, 2013, Kawaguchi et al, 2016). Therefore, the LOB was determined by evaluating the 95% one-tailed upper limit of the model distribution, as done in previous reports (Taly et al, 2013, Kawaguchi et al, 2016).…”

Section: Resultsmentioning

confidence: 85%

“…We used this test system to assess multiplex detection of 3 EGFR mutations in 45 samples of surgically resected primary tumors from NSCLC patients enrolled in the Japan Molecular Epidemiology for Lung Cancer Cases (JME) study (Kawaguchi et al, 2016). That study (UMIN000008177) is a prospective, multicenter molecular epidemiological analysis designed to address associations between driver mutations and smoking and other environmental factors.…”

Section: Methodsmentioning

confidence: 99%

“…Eligible subjects are patients with newly diagnosed NSCLC of stage I to IIIB who have received surgical treatment. Full details of the study design were published elsewhere (Kawaguchi et al, 2016). …”

Section: Methodsmentioning

confidence: 99%

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Multiplex Ultrasensitive Genotyping of Patients with Non-Small Cell Lung Cancer for Epidermal Growth Factor Receptor (EGFR) Mutations by Means of Picodroplet Digital PCR

et al. 2017

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Epidermal growth factor receptor (EGFR) mutations have been used as the strongest predictor of effectiveness of treatment with EGFR tyrosine kinase inhibitors (TKIs). Three most common EGFR mutations (L858R, exon 19 deletion, and T790M) are known to be major selection markers for EGFR-TKIs therapy. Here, we developed a multiplex picodroplet digital PCR (ddPCR) assay to detect 3 common EGFR mutations in 1 reaction. Serial-dilution experiments with genomic DNA harboring EGFR mutations revealed linear performance, with analytical sensitivity ~ 0.01% for each mutation. All 33 EGFR-activating mutations detected in formalin-fixed paraffin-embedded (FFPE) tissue samples by the conventional method were also detected by this multiplex assay. Owing to the higher sensitivity, an additional mutation (T790M; including an ultra-low-level mutation, < 0.1%) was detected in the same reaction. Regression analysis of the duplex assay and multiplex assay showed a correlation coefficient (R2) of 0.9986 for L858R, 0.9844 for an exon 19 deletion, and 0.9959 for T790M. Using ddPCR, we designed a multiplex ultrasensitive genotyping platform for 3 common EGFR mutations. Results of this proof-of-principle study on clinical samples indicate clinical utility of multiplex ddPCR for screening for multiple EGFR mutations concurrently with an ultra-rare pretreatment mutation (T790M).

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Section: Resultsmentioning

confidence: 85%

Section: Methodsmentioning

confidence: 99%

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Multiplex Ultrasensitive Genotyping of Patients with Non-Small Cell Lung Cancer for Epidermal Growth Factor Receptor (EGFR) Mutations by Means of Picodroplet Digital PCR

et al. 2017

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“…Further, oncogenic driver mutations, which serve as the basis for precision therapy for lung cancer, are not well characterized by smoking status. A recent prospective study with a mix of smoking and non-smoking Asians identified some key differences in these patients’ mutation profiles (38), but much additional work is needed including prospective studies of populations with ethnic heterogeneity and variation in smoking behaviors. Breast cancer is a screening detectable cancer, but effective intervention requires access and use of healthcare, which has been found to be heterogonous across Asian subgroups.…”

Section: Discussionmentioning

confidence: 99%

The Burden of Cancer in Asian Americans: A Report of National Mortality Trends by Asian Ethnicity

Thompson

Gomez

Hastings

et al. 2016

Cancer Epidemiology, Biomarkers &Amp; Prevention

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BACKGROUND Asian Americans (AAs) are the fastest growing U.S. population, and when properly distinguished by their ethnic origins, exhibit substantial heterogeneity in socioeconomic status, health behaviors, and health outcomes. Cancer is the second leading cause of death in the US, yet trends and current patterns in the mortality burden of cancer among AA ethnic groups have not been documented. METHODS We report age-adjusted rates, standardized mortality ratios, and modeled trends in cancer-related mortality in the following Asian American (AA) ethnicities: Asian Indians, Chinese, Filipinos, Japanese, Koreans, and Vietnamese, from 2003–2011, with non-Hispanic whites (NHW) as the reference population. RESULTS For most cancer sites, AAs had lower cancer mortality than NHWs, however, mortality patterns were heterogeneous across Asian American ethnicities. Stomach and liver cancer mortality was very high, particularly among Chinese, Koreans, and Vietnamese, for whom these two cancer types combined accounted for 15–25% of cancer deaths, but less than 5% of cancer deaths in NHWs. In AA women, lung cancer was a leading cause of death but (unlike males and NHW females) rates did not decline over the study period. CONCLUSIONS Ethnicity-specific analyses are critical to understanding the national burden of cancer among the heterogeneous AA population. IMPACT Our findings highlight the need for disaggregated reporting of cancer statistics in AAs, and warrant consideration of tailored screening programs for liver and gastric cancers.

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“…The specific EGFR mutations driving much of the sensitivity to tyrosine kinase inhibition (TKI) were first identified in 2004 following a subgroup analysis of patients who showed tumor responsiveness during treatment with a TKI [30,31]. The EGFR mutation is most common in non-smoking Asian females with adenocarcinoma, though it is frequently found outside of this demographic [31, 68,69]. While the EGFR mutation has also been found in other types of NSCLC, it is most frequently associated with adenocarcinoma [70].…”

Section: Mutation and Gene Fusion Analysismentioning

confidence: 99%

Update on NSCLC tissue acquisition, processing, and profiling in the molecular age

Conterato¹,

Belanger²,

Yarmus³

et al. 2017

Hematol Med Oncol

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As novel therapies for specific genetic mutations, chromosomal rearrangement profiles and check point inhibition in patients with NSCLC becomes more ubiquitous, adequate tissue acquisition and specimen processing has become crucial. Historically, tissue was obtained via invasive surgical resection or sampling. New tissue acquisition techniques have become increasingly commonplace in the diagnosis of NSCLC; these techniques are less invasive and at least equally reliable, if not superior, at obtaining tissue for diagnosis and molecular profiling. The preparation of tissue specimens has also been the subject of study as different methods have shown to increase cellular yield. This is of particular importance as the number of clinically significant targetable mutations and chromosomal rearrangements continues to grow, next generation sequencing becomes increasingly commonplace, and the need for more tissue increases.

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Prospective Analysis of Oncogenic Driver Mutations and Environmental Factors: Japan Molecular Epidemiology for Lung Cancer Study

Abstract: The mutational spectrum is associated with smoking, body mass index, and other environmental factors, as well as with ERβ expression. Little association was observed between HPV and NSCLC.

Cited by 104 publications

References 27 publications

Multiplex Ultrasensitive Genotyping of Patients with Non-Small Cell Lung Cancer for Epidermal Growth Factor Receptor (EGFR) Mutations by Means of Picodroplet Digital PCR

Multiplex Ultrasensitive Genotyping of Patients with Non-Small Cell Lung Cancer for Epidermal Growth Factor Receptor (EGFR) Mutations by Means of Picodroplet Digital PCR

The Burden of Cancer in Asian Americans: A Report of National Mortality Trends by Asian Ethnicity

Update on NSCLC tissue acquisition, processing, and profiling in the molecular age

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