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Article ; Online: Prevalent occupational exposures and risk of lung cancer among women: Results from the application of the Canadian Job-Exposure Matrix (CANJEM) to a combined set of ten case-control studies.

2024 Volume 67, Issue 3, Page(s) 200–213

Abstract: Background: Worldwide, lung cancer is the second leading cause of cancer death in women. The present study explored associations between occupational exposures that are prevalent among women, and lung cancer.: Methods: Data from 10 case-control ... ...

Abstract	Background: Worldwide, lung cancer is the second leading cause of cancer death in women. The present study explored associations between occupational exposures that are prevalent among women, and lung cancer. Methods: Data from 10 case-control studies of lung cancer from Europe, Canada, and New Zealand conducted between 1988 and 2008 were combined. Lifetime occupational history and information on nonoccupational factors including smoking were available for 3040 incident lung cancer cases and 4187 controls. We linked each reported job to the Canadian Job-Exposure Matrix (CANJEM), which provided estimates of probability, intensity, and frequency of exposure to each selected agent in each job. For this analysis, we selected 15 agents (cleaning agents, biocides, cotton dust, synthetic fibers, formaldehyde, cooking fumes, organic solvents, cellulose, polycyclic aromatic hydrocarbons from petroleum, ammonia, metallic dust, alkanes C18+, iron compounds, isopropanol, and calcium carbonate) that had lifetime exposure prevalence of at least 5% in the combined study population. For each agent, we estimated lung cancer risk in each study center for ever-exposure, by duration of exposure, and by cumulative exposure, using separate logistic regression models adjusted for smoking and other covariates. We then estimated the meta-odds ratios using random-effects meta-analysis. Results and conclusions: None of the agents assessed showed consistent and compelling associations with lung cancer among women. The following agents showed elevated odds ratio in some analyses: metallic dust, iron compounds, isopropanol, and organic solvents. Future research into occupational lung cancer risk factors among women should prioritize these agents.
MeSH term(s)	Humans ; Female ; Lung Neoplasms/etiology ; Lung Neoplasms/chemically induced ; 2-Propanol ; Canada/epidemiology ; Occupational Exposure/adverse effects ; Occupational Exposure/analysis ; Dust/analysis ; Risk Factors ; Solvents/toxicity ; Iron Compounds ; Case-Control Studies ; Occupational Diseases/etiology ; Occupational Diseases/chemically induced
Chemical Substances	2-Propanol (ND2M416302) ; Dust ; Solvents ; Iron Compounds
Language	English
Publishing date	2024-01-08
Publishing country	United States
Document type	Meta-Analysis ; Journal Article
ZDB-ID	604538-8
ISSN	1097-0274 ; 0271-3586
ISSN (online)	1097-0274
ISSN	0271-3586
DOI	10.1002/ajim.23562
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Zs.A 1605: Show issues

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Article ; Online: A Likelihood Ratio Test for Gene-Environment Interaction Based on the Trend Effect of Genotype Under an Additive Risk Model Using the Gene-Environment Independence Assumption.

de Rochemonteix, Matthieu / Napolioni, Valerio / Sanyal, Nilotpal / Belloy, Michaël E / Caporaso, Neil E / Landi, Maria T / Greicius, Michael D / Chatterjee, Nilanjan / Han, Summer S

American journal of epidemiology

2020 Volume 190, Issue 1, Page(s) 129–141

Abstract: Several statistical methods have been proposed for testing gene-environment (G-E) interactions under additive risk models using data from genome-wide association studies. However, these approaches have strong assumptions from underlying genetic models, ... ...

Abstract	Several statistical methods have been proposed for testing gene-environment (G-E) interactions under additive risk models using data from genome-wide association studies. However, these approaches have strong assumptions from underlying genetic models, such as dominant or recessive effects that are known to be less robust when the true genetic model is unknown. We aimed to develop a robust trend test employing a likelihood ratio test for detecting G-E interaction under an additive risk model, while incorporating the G-E independence assumption to increase power. We used a constrained likelihood to impose 2 sets of constraints for: 1) the linear trend effect of genotype and 2) the additive joint effects of gene and environment. To incorporate the G-E independence assumption, a retrospective likelihood was used versus a standard prospective likelihood. Numerical investigation suggests that the proposed tests are more powerful than tests assuming dominant, recessive, or general models under various parameter settings and under both likelihoods. Incorporation of the independence assumption enhances efficiency by 2.5-fold. We applied the proposed methods to examine the gene-smoking interaction for lung cancer and gene-apolipoprotein E $\varepsilon$4 interaction for Alzheimer disease, which identified 2 interactions between apolipoprotein E $\varepsilon$4 and loci membrane-spanning 4-domains subfamily A (MS4A) and bridging integrator 1 (BIN1) genes at genome-wide significance that were replicated using independent data.
MeSH term(s)	Adaptor Proteins, Signal Transducing/genetics ; Alzheimer Disease/genetics ; Apolipoprotein E4/genetics ; Gene-Environment Interaction ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Likelihood Functions ; Lung Neoplasms/genetics ; Membrane Proteins/genetics ; Models, Genetic ; Nuclear Proteins/genetics ; Research Design ; Smoking/adverse effects ; Tumor Suppressor Proteins/genetics
Chemical Substances	Adaptor Proteins, Signal Transducing ; Apolipoprotein E4 ; BIN1 protein, human ; Membrane Proteins ; Nuclear Proteins ; Tumor Suppressor Proteins
Language	English
Publishing date	2020-08-25
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2937-3
ISSN	1476-6256 ; 0002-9262
ISSN (online)	1476-6256
ISSN	0002-9262
DOI	10.1093/aje/kwaa132
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Article ; Online: Candidate pathway analysis of surfactant proteins identifies CTSH and SFTA2 that influences lung cancer risk.

Luyapan, Jennifer / Bossé, Yohan / Li, Zhonglin / Xiao, Xiangjun / Rosenberger, Albert / Hung, Rayjean J / Lam, Stephen / Zienolddiny, Shanbeh / Liu, Geoffrey / Kiemeney, Lambertus A / Chen, Chu / McKay, James / Johansson, Mattias / Johansson, Mikael / Tardon, Adonina / Fernandez-Tardon, Guillermo / Brennan, Paul / Field, John K / Davies, Michael P /

Woll, Penella J / Cox, Angela / Taylor, Fiona / Arnold, Susanne M / Lazarus, Philip / Grankvist, Kjell / Landi, Maria T / Christiani, David C / MacKenzie, Todd A / Amos, Christopher I

Human molecular genetics

2023 Volume 32, Issue 18, Page(s) 2842–2855

Abstract: Pulmonary surfactant is a lipoprotein synthesized and secreted by alveolar type II cells in lung. We evaluated the associations between 200,139 single nucleotide polymorphisms (SNPs) of 40 surfactant-related genes and lung cancer risk using genotyped ... ...

Abstract	Pulmonary surfactant is a lipoprotein synthesized and secreted by alveolar type II cells in lung. We evaluated the associations between 200,139 single nucleotide polymorphisms (SNPs) of 40 surfactant-related genes and lung cancer risk using genotyped data from two independent lung cancer genome-wide association studies. Discovery data included 18,082 cases and 13,780 controls of European ancestry. Replication data included 1,914 cases and 3,065 controls of European descent. Using multivariate logistic regression, we found novel SNPs in surfactant-related genes CTSH [rs34577742 C > T, odds ratio (OR) = 0.90, 95% confidence interval (CI) = 0.89-0.93, P = 7.64 × 10-9] and SFTA2 (rs3095153 G > A, OR = 1.16, 95% CI = 1.10-1.21, P = 1.27 × 10-9) associated with overall lung cancer in the discovery data and validated in an independent replication data-CTSH (rs34577742 C > T, OR = 0.88, 95% CI = 0.80-0.96, P = 5.76 × 10-3) and SFTA2 (rs3095153 G > A, OR = 1.14, 95% CI = 1.01-1.28, P = 3.25 × 10-2). Among ever smokers, we found SNPs in CTSH (rs34577742 C > T, OR = 0.89, 95% CI = 0.85-0.92, P = 1.94 × 10-7) and SFTA2 (rs3095152 G > A, OR = 1.20, 95% CI = 1.14-1.27, P = 4.25 × 10-11) associated with overall lung cancer in the discovery data and validated in the replication data-CTSH (rs34577742 C > T, OR = 0.88, 95% CI = 0.79-0.97, P = 1.64 × 10-2) and SFTA2 (rs3095152 G > A, OR = 1.15, 95% CI = 1.01-1.30, P = 3.81 × 10-2). Subsequent transcriptome-wide association study using expression weights from a lung expression quantitative trait loci study revealed genes most strongly associated with lung cancer are CTSH (PTWAS = 2.44 × 10-4) and SFTA2 (PTWAS = 2.32 × 10-6).
MeSH term(s)	Humans ; Genome-Wide Association Study ; Lung/metabolism ; Lung Neoplasms ; Genotype ; Pulmonary Surfactants/metabolism ; Surface-Active Agents/metabolism ; Polymorphism, Single Nucleotide ; Genetic Predisposition to Disease ; Cathepsin H/genetics ; Cathepsin H/metabolism
Chemical Substances	Pulmonary Surfactants ; Surface-Active Agents ; CTSH protein, human (EC 3.4.22.16) ; Cathepsin H (EC 3.4.22.16)
Language	English
Publishing date	2023-07-18
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddad095
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Article: VTET: a variable threshold exact test for identifying disease-associated copy number variations enriched in short genomic regions.

Shi, Jianxin / Yang, Xiaohong R / Caporaso, Neil E / Landi, Maria T / Li, Peng

Frontiers in genetics

2014 Volume 5, Page(s) 53

Abstract: Copy number variations (CNVs) constitute a major source of genetic variations in human populations and have been reported to be associated with complex diseases. Methods have been developed for detecting CNVs and testing CNV associations in genome-wide ... ...

Abstract	Copy number variations (CNVs) constitute a major source of genetic variations in human populations and have been reported to be associated with complex diseases. Methods have been developed for detecting CNVs and testing CNV associations in genome-wide association studies (GWAS) based on SNP arrays. Commonly used two-step testing procedures work well only for long CNVs while direct CNV association testing methods work only for recurrent CNVs. Assuming that short CNVs disrupting any part of a given genomic region increase disease risk, we developed a variable threshold exact test (VTET) for testing disease associations of CNVs randomly distributed in the genome using intensity data from SNP arrays. By extensive simulations, we found that VTET outperformed two-step testing procedures based on existing CNV calling algorithms for short CNVs and that the performance of VTET was robust to the length of the genomic region. In addition, VTET had a comparable performance with CNVtools for testing the association of recurrent CNVs. Thus, we expect VTET to be useful for testing disease associations of both recurrent and randomly distributed CNVs using existing GWAS data. We applied VTET to a lung cancer GWAS and identified a genome-wide significant region on chromosome 18q22.3 for lung squamous cell carcinoma.
Language	English
Publishing date	2014-03-18
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2014.00053
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Article ; Online: On combining family and case-control studies.

Pfeiffer, Ruth M / Pee, David / Landi, Maria T

Genetic epidemiology

2008 Volume 32, Issue 7, Page(s) 638–646

Abstract: Studies to detect genetic association with disease can be family-based, often using families with multiple affected members, or population based, as in population-based case-control studies. If data on both study types are available from the same ... ...

Abstract	Studies to detect genetic association with disease can be family-based, often using families with multiple affected members, or population based, as in population-based case-control studies. If data on both study types are available from the same population, it is useful to combine them to improve power to detect genetic associations. Two aspects of the data need to be accommodated, the sampling scheme and potential residual correlations among family members. We propose two approaches for combining data from a case-control study and a family study that collected families with multiple cases. In the first approach, we view a family as the sampling unit and specify the joint likelihood for the family members using a two-level mixed effects model to account for random familial effects and for residual genetic correlations among family members. The ascertainment of the families is accommodated by conditioning on the ascertainment event. The individuals in the case-control study are treated as families of size one, and their unconditional likelihood is combined with the conditional likelihood for the families. This approach yields subject specific maximum likelihood estimates of covariate effects. In the second approach, we view an individual as the sampling unit. The sampling scheme is accommodated using two-phase sampling techniques, marginal covariate effects are estimated, and correlations among family members are accounted for in the variance calculations. The models are compared in simulations. Data from a case-control and a family study from north-eastern Italy on melanoma and a low-risk melanoma-susceptibility gene, MC1R, are used to illustrate the approaches.
MeSH term(s)	Case-Control Studies ; Computer Simulation ; Family Health ; Female ; Genetic Predisposition to Disease ; Genetic Variation ; Genetics ; Humans ; Italy ; Likelihood Functions ; Male ; Melanoma/genetics ; Models, Genetic ; Models, Statistical ; Research Design
Language	English
Publishing date	2008-02-29
Publishing country	United States
Document type	Journal Article
ZDB-ID	605785-8
ISSN	1098-2272 ; 0741-0395
ISSN (online)	1098-2272
ISSN	0741-0395
DOI	10.1002/gepi.20338
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Article ; Online: Lung Cancer in Ever- and Never-Smokers: Findings from Multi-Population GWAS Studies.

Li, Yafang / Xiao, Xiangjun / Li, Jianrong / Han, Younghun / Cheng, Chao / Fernandes, Gail F / Slewitzke, Shannon E / Rosenberg, Susan M / Zhu, Meng / Byun, Jinyoung / Bossé, Yohan / McKay, James D / Albanes, Demetrios / Lam, Stephen / Tardon, Adonina / Chen, Chu / Bojesen, Stig E / Landi, Maria T / Johansson, Mattias /

Risch, Angela / Bickeböller, Heike / Wichmann, H-Erich / Christiani, David C / Rennert, Gad / Arnold, Susanne M / Goodman, Gary E / Field, John K / Davies, Michael P A / Shete, Sanjay / Marchand, Loïc Le / Liu, Geoffrey / Hung, Rayjean J / Andrew, Angeline S / Kiemeney, Lambertus A / Sun, Ryan / Zienolddiny, Shanbeh / Grankvist, Kjell / Johansson, Mikael / Caporaso, Neil E / Cox, Angela / Hong, Yun-Chul / Lazarus, Philip / Schabath, Matthew B / Aldrich, Melinda C / Schwartz, Ann G / Gorlov, Ivan / Purrington, Kristen S / Yang, Ping / Liu, Yanhong / Bailey-Wilson, Joan E / Pinney, Susan M / Mandal, Diptasri / Willey, James C / Gaba, Colette / Brennan, Paul / Xia, Jun / Shen, Hongbing / Amos, Christopher I

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology

2024 Volume 33, Issue 3, Page(s) 389–399

Abstract: Background: Clinical, molecular, and genetic epidemiology studies displayed remarkable differences between ever- and never-smoking lung cancer.: Methods: We conducted a stratified multi-population (European, East Asian, and African descent) ... ...

Abstract	Background: Clinical, molecular, and genetic epidemiology studies displayed remarkable differences between ever- and never-smoking lung cancer. Methods: We conducted a stratified multi-population (European, East Asian, and African descent) association study on 44,823 ever-smokers and 20,074 never-smokers to identify novel variants that were missed in the non-stratified analysis. Functional analysis including expression quantitative trait loci (eQTL) colocalization and DNA damage assays, and annotation studies were conducted to evaluate the functional roles of the variants. We further evaluated the impact of smoking quantity on lung cancer risk for the variants associated with ever-smoking lung cancer. Results: Five novel independent loci, GABRA4, intergenic region 12q24.33, LRRC4C, LINC01088, and LCNL1 were identified with the association at two or three populations (P < 5 × 10-8). Further functional analysis provided multiple lines of evidence suggesting the variants affect lung cancer risk through excessive DNA damage (GABRA4) or cis-regulation of gene expression (LCNL1). The risk of variants from 12 independent regions, including the well-known CHRNA5, associated with ever-smoking lung cancer was evaluated for never-smokers, light-smokers (packyear ≤ 20), and moderate-to-heavy-smokers (packyear > 20). Different risk patterns were observed for the variants among the different groups by smoking behavior. Conclusions: We identified novel variants associated with lung cancer in only ever- or never-smoking groups that were missed by prior main-effect association studies. Impact: Our study highlights the genetic heterogeneity between ever- and never-smoking lung cancer and provides etiologic insights into the complicated genetic architecture of this deadly cancer.
MeSH term(s)	Humans ; Lung Neoplasms/epidemiology ; Lung Neoplasms/genetics ; Smokers ; Genome-Wide Association Study ; Research Design ; Smoking/adverse effects
Language	English
Publishing date	2024-01-05
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	1153420-5
ISSN	1538-7755 ; 1055-9965
ISSN (online)	1538-7755
ISSN	1055-9965
DOI	10.1158/1055-9965.EPI-23-0613
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Zs.A 3693: Show issues

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Article ; Online: Mosaic Chromosomal Alterations Are Associated With Increased Lung Cancer Risk: Insight From the INTEGRAL-ILCCO Cohort Analysis.

Cheng, Chao / Hong, Wei / Li, Yafang / Xiao, Xiangjun / McKay, James / Han, Younghun / Byun, Jinyoung / Peng, Bo / Albanes, Demetrios / Lam, Stephen / Tardon, Adonina / Chen, Chu / Bojesen, Stig E / Landi, Maria T / Johansson, Mattias / Risch, Angela / Bickeböller, Heike / Wichmann, H-Erich / Christiani, David C /

Rennert, Gad / Arnold, Susanne / Goodman, Gary / Field, John K / Davies, Michael P A / Shete, Sanjay S / Le Marchand, Loic / Liu, Geoffrey / Hung, Rayjean J / Andrew, Angeline S / Kiemeney, Lambertus A / Zhu, Meng / Shen, Hongbing / Zienolddiny, Shan / Grankvist, Kjell / Johansson, Mikael / Cox, Angela / Hong, Yun-Chul / Yuan, Jian-Min / Lazarus, Philip / Schabath, Matthew B / Aldrich, Melinda C / Brennan, Paul / Li, Yong / Gorlova, Olga / Gorlov, Ivan / Amos, Christopher I

Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer

2023 Volume 18, Issue 8, Page(s) 1003–1016

Abstract: Introduction: Mosaic chromosomal alterations (mCAs) detected in white blood cells represent a type of clonal hematopoiesis (CH) that is understudied compared with CH-related somatic mutations. A few recent studies indicated their potential link with ... ...

Abstract	Introduction: Mosaic chromosomal alterations (mCAs) detected in white blood cells represent a type of clonal hematopoiesis (CH) that is understudied compared with CH-related somatic mutations. A few recent studies indicated their potential link with nonhematological cancers, especially lung cancer. Methods: In this study, we investigated the association between mCAs and lung cancer using the high-density genotyping data from the OncoArray study of INTEGRAL-ILCCO, the largest single genetic study of lung cancer with 18,221 lung cancer cases and 14,825 cancer-free controls. Results: We identified a comprehensive list of autosomal mCAs, ChrX mCAs, and mosaic ChrY (mChrY) losses from these samples. Autosomal mCAs were detected in 4.3% of subjects, in addition to ChrX mCAs in 3.6% of females and mChrY losses in 9.6% of males. Multivariable logistic regression analysis indicated that the presence of autosomal mCAs in white blood cells was associated with an increased lung cancer risk after adjusting for key confounding factors, including age, sex, smoking status, and race. This association was mainly driven by a specific type of mCAs: copy-neutral loss of heterozygosity on autosomal chromosomes. The association between autosome copy-neutral loss of heterozygosity and increased risk of lung cancer was further confirmed in two major histologic subtypes, lung adenocarcinoma and squamous cell carcinoma. In addition, we observed a significant increase of ChrX mCAs and mChrY losses in smokers compared with nonsmokers and racial differences in certain types of mCA events. Conclusions: Our study established a link between mCAs in white blood cells and increased risk of lung cancer.
MeSH term(s)	Male ; Female ; Humans ; Lung Neoplasms/genetics ; Chromosome Aberrations ; Carcinoma, Squamous Cell/genetics ; Cohort Studies ; Smoking/adverse effects
Language	English
Publishing date	2023-05-05
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2432037-7
ISSN	1556-1380 ; 1556-0864
ISSN (online)	1556-1380
ISSN	1556-0864
DOI	10.1016/j.jtho.2023.05.001
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Zs.A 6664: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Genome-wide interaction analysis identified low-frequency variants with sex disparity in lung cancer risk.

Li, Yafang / Xiao, Xiangjun / Li, Jianrong / Byun, Jinyoung / Cheng, Chao / Bossé, Yohan / McKay, James / Albanes, Demetrios / Lam, Stephen / Tardon, Adonina / Chen, Chu / Bojesen, Stig E / Landi, Maria T / Johansson, Mattias / Risch, Angela / Bickeböller, Heike / Wichmann, H-Erich / Christiani, David C / Rennert, Gad /

Arnold, Susanne / Goodman, Gary / Field, John K / Davies, Michael P A / Shete, Sanjay S / Le Marchand, Loic / Melander, Olle / Brunnström, Hans / Liu, Geoffrey / Hung, Rayjean J / Andrew, Angeline S / Kiemeney, Lambertus A / Shen, Hongbing / Sun, Ryan / Zienolddiny, Shan / Grankvist, Kjell / Johansson, Mikael / Caporaso, Neil / Teare, Dawn M / Hong, Yun-Chul / Lazarus, Philip / Schabath, Matthew B / Aldrich, Melinda C / Schwartz, Ann G / Gorlov, Ivan / Purrington, Kristen / Yang, Ping / Liu, Yanhong / Han, Younghun / Bailey-Wilson, Joan E / Pinney, Susan M / Mandal, Diptasri / Willey, James C / Gaba, Colette / Brennan, Paul / Amos, Christopher I

Human molecular genetics

2022 Volume 31, Issue 16, Page(s) 2831–2843

Abstract: Differences by sex in lung cancer incidence and mortality have been reported which cannot be fully explained by sex differences in smoking behavior, implying existence of genetic and molecular basis for sex disparity in lung cancer development. However, ... ...

Abstract	Differences by sex in lung cancer incidence and mortality have been reported which cannot be fully explained by sex differences in smoking behavior, implying existence of genetic and molecular basis for sex disparity in lung cancer development. However, the information about sex dimorphism in lung cancer risk is quite limited despite the great success in lung cancer association studies. By adopting a stringent two-stage analysis strategy, we performed a genome-wide gene-sex interaction analysis using genotypes from a lung cancer cohort including ~ 47 000 individuals with European ancestry. Three low-frequency variants (minor allele frequency < 0.05), rs17662871 [odds ratio (OR) = 0.71, P = 4.29×10-8); rs79942605 (OR = 2.17, P = 2.81×10-8) and rs208908 (OR = 0.70, P = 4.54×10-8) were identified with different risk effect of lung cancer between men and women. Further expression quantitative trait loci and functional annotation analysis suggested rs208908 affects lung cancer risk through differential regulation of Coxsackie virus and adenovirus receptor gene expression in lung tissues between men and women. Our study is one of the first studies to provide novel insights about the genetic and molecular basis for sex disparity in lung cancer development.
MeSH term(s)	Case-Control Studies ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Lung ; Lung Neoplasms/epidemiology ; Lung Neoplasms/genetics ; Male ; Polymorphism, Single Nucleotide/genetics
Language	English
Publishing date	2022-02-07
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddac030
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Article ; Online: BRAF mutations in cutaneous melanoma are independently associated with age, anatomic site of the primary tumor, and the degree of solar elastosis at the primary tumor site.

Bauer, Jürgen / Büttner, Petra / Murali, Rajmohan / Okamoto, Ichiro / Kolaitis, Nicholas A / Landi, Maria T / Scolyer, Richard A / Bastian, Boris C

Pigment cell & melanoma research

2011 Volume 24, Issue 2, Page(s) 345–351

Abstract: Oncogenic BRAF mutations are more frequent in cutaneous melanoma occurring at sites with little or moderate sun-induced damage than at sites with severe cumulative solar ultraviolet (UV) damage. We studied cutaneous melanomas from geographic regions with ...

Abstract	Oncogenic BRAF mutations are more frequent in cutaneous melanoma occurring at sites with little or moderate sun-induced damage than at sites with severe cumulative solar ultraviolet (UV) damage. We studied cutaneous melanomas from geographic regions with different levels of ambient UV radiation to delineate the relative effects of cumulative UV damage, age, and anatomic site on the frequency of BRAF mutations. We show that BRAF-mutated melanomas occur in a younger age group on skin without marked solar elastosis and less frequently affect the head and neck area, compared to melanomas without BRAF mutations. The findings indicate that BRAF-mutated melanomas arise early in life at low cumulative UV doses, whereas melanomas without BRAF mutations require accumulation of high UV doses over time. The effect of anatomic site on the mutation spectrum further suggests regional differences among cutaneous melanocytes.
MeSH term(s)	Adult ; Aged ; DNA Mutational Analysis ; Female ; Humans ; Male ; Melanoma/genetics ; Melanoma/pathology ; Middle Aged ; Multivariate Analysis ; Mutation ; Proto-Oncogene Proteins B-raf/genetics ; Skin/pathology ; Skin/radiation effects ; Skin Neoplasms/genetics ; Skin Neoplasms/pathology ; Sunlight ; Ultraviolet Rays
Chemical Substances	BRAF protein, human (EC 2.7.11.1) ; Proto-Oncogene Proteins B-raf (EC 2.7.11.1)
Language	English
Publishing date	2011-03-07
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2409570-9
ISSN	1755-148X ; 1600-0749 ; 0893-5785 ; 1755-1471
ISSN (online)	1755-148X ; 1600-0749
ISSN	0893-5785 ; 1755-1471
DOI	10.1111/j.1755-148X.2011.00837.x
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Article ; Online: Germline mutations in Protection of Telomeres 1 in two families with Hodgkin lymphoma.

British journal of haematology

2018 Volume 181, Issue 3, Page(s) 372–377

Abstract: In a previous whole exome sequencing of patients from 41 families with Hodgkin lymphoma, we identified two families with distinct heterozygous rare coding variants in POT1 (D224N and Y36H), both in a highly conserved region of the gene. POT1 D224N mutant ...

Abstract	In a previous whole exome sequencing of patients from 41 families with Hodgkin lymphoma, we identified two families with distinct heterozygous rare coding variants in POT1 (D224N and Y36H), both in a highly conserved region of the gene. POT1 D224N mutant did not bind to a single-stranded telomere oligonucleotide in vitro suggesting the mutation perturbs POT1's ability to bind to the telomeric G-rich overhang. Human HT1080 cells expressing POT1 D224N and lymphoblastoid cells carrying Y36H both showed increased telomere length and fragility in comparison to wild type cells. This strongly suggests that mutant POT1 causes chromosome instability and may play a role in lymphomagenesis in these families.
MeSH term(s)	Amino Acid Substitution ; Cell Line, Tumor ; Chromosomal Instability ; Family ; Female ; Germ-Line Mutation ; Hodgkin Disease/genetics ; Hodgkin Disease/metabolism ; Hodgkin Disease/pathology ; Humans ; Male ; Mutation, Missense ; Telomere/genetics ; Telomere/metabolism ; Telomere-Binding Proteins/genetics ; Telomere-Binding Proteins/metabolism
Chemical Substances	POT1 protein, human ; Telomere-Binding Proteins
Language	English
Publishing date	2018-04-24
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/bjh.15203
Database	MEDical Literature Analysis and Retrieval System OnLINE

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