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Racial disparities in the genetic landscape 
of lung cancer 
Shashi Anand1,2, Kunwar Somesh Vikramdeo1,2, Seema Singh1,2,3, Ajay Pratap Singh1,2,3, 
Santanu Dasgupta1,2,3* 

1Department of Pathology, College of Medicine, University of South Alabama, Mobile, AL 36617 
2Cancer Biology Program, Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604 
3Department of Biochemistry and Molecular Biology, University of South Alabama, Mobile, AL 36688. 

*Corresponding author: Santanu Dasgupta, Phone: 251-445-9805, Fax: 251-460-6994, Email: 
dasgupta@southalabama.edu. 

ABSTRACT 
Lung cancer has the highest cancer-related mortality worldwide and in the United States. Although 
reduced tobacco consumption and advancement in therapies have led to a modest decline in lung cancer 
death rates over the past two decades; the overall survival rate is still disappointing. Moreover, race-
associated disparities are also observed, especially in the clinical outcomes. Socioeconomic factors are 
considered major contributors in cancer health disparities, however, the differences in the genetic 
landscape of lung cancer among different racial groups have also been reported. In this review, we shed 
light on the genetic heterogeneity of lung cancer and race-associated differences in genetic alterations 
to build a framework for future studies to understand the biological basis of lung cancer disparities. 

KEYWORDS: lung cancer, smoking, racial disparity, gene mutation, mitochondria. 

Citation: Anand S et al (2022) Racial disparities in the genetic landscape of lung cancer. Cancer Health 
Disparities 6:e1-9. doi:10.9777/chd.2021.1006 
 
 
  



 
 
 
 
 

 
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Introduction 
Lung cancer (LC) is a lethal disease that took 1.8 
million lives globally in 2020 [1]. This year, it is 
expected to kill nearly 131,880 people in the United 
States alone, with around 235,760 new diagnoses 
[1]. Although with advances in therapy, the LC 
mortality rate has been on a mild decline over the 
past two decades, the overall 5-year survival rate of 
LC patients is still at 21.7% [1,2]. Another upsetting 
fact is that in the United States, LC 
disproportionately affects people of African 
descend (AA, African American) compared to those 
of European origin (CA, Caucasian American). The 
incidence of LC is 1.15 times higher among the AA 
men compared to the CA men (85.4/100,000-AA vs. 
74.3/100,000-CA), whereas it is 0.86 times lower 
among the AA women compared to the CA women 
(49.2/100,000-AA vs. 57.4/100,000-CA) [3]. 
Similarly, the LC mortality is 1.18 times higher 
among the AA men than the CA men 
(63.9/100,000-AA vs. 54.1/100,000-CA) and 0.88 
times lower among the AA women than CA women 
(33.9/100,000-AA vs. 37.9/100,000-CA). Moreover, 
AA LC patients are 16% less likely to have an early 
diagnosis and are diagnosed at advanced stages 
[3]. The 5-year overall survival rate among the AA 
is also lower (16%) than that of the CA group (19%) 
[3], underscoring the need to define the factors 
underlying these racial health disparities.  

Potential contributing factors associated 
with lung cancer disparity 
Cigarette smoking plays a significant role in lung 
tumorigenesis [4–7]. Although the overall cigarette 
smoking prevalence is similar in both AA and CA 
populations (15%-AA vs. 16% CA), it appears to be 
higher among CA women compared to the AA 
women (15% vs. 12%) [2]. Notably, the metabolic 
capability of cigarette smoke-derived carcinogens 
may also vary in different racial populations giving 
rise to an increased risk of LC. For example, the 

clearance of cigarette smoke-derived nicotine in the 
body is regulated by the CYP2A6 gene, which 
converts nicotine to cotinine [8]. Different genetic 
variants of CYP2A6 could potentially be associated 
with increased risk of LC in AA, as a higher level of 
cotinine was detected in the blood of AA LC 
patients compared to CA LC patients. However, a 
clear link associating the metabolism of nicotine 
and other tobacco carcinogens with LC disparity 
has not yet been established. The geographical 
location and socioeconomic status (SES) of the 
patients also seem to be important contributing 
factors in LC health disparities. People from various 
races living in heavily industrialized areas and areas 
with a high rate of air pollution may be associated 
with an increased risk of LC development [9]. In 
addition, body mass index, alcohol consumption, 
radon, and alternative or unidentified 
environmental exposures may also potentially 
contribute to LC health disparities [10]. On the other 
hand, the LC risk may increase in socioeconomically 
disadvantaged racial groups continuously exposed 
to low SES-derived stressors accompanied by a 
high prevalence of smoking and other unhealthy 
behavior.  

Genetic heterogeneity in lung cancer 
and its association with racial health 
disparity 
Through comprehensive next-generation deep 
sequencing, numerous genetic anomalies have 
been cataloged in LC. To date, a panel of twenty 
genes with the highest frequency of mutations have 
been identified in LC (Figure 1). In addition, several 
different types of genetic mutations have been 
reported, including nonsense substitution, missense 
substitution, synonymous substitution, inframe 
insertion, frameshift insertion or deletion mutations 
(Figure 2). Among these genes, EGFR and KRAS 
appear to be the most frequently mutated ones in 
LC. EGFR gene mutations predominantly occur 



 
 
 
 
 

 
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among non-smoker patients with adenocarcinoma 
histology, whereas KRAS mutations are common 
among smokers with squamous cell carcinoma 
histology [11]. In an earlier study by Liedner et al., 
AA LC patients were found to harbor a significantly 
lower number of EGFR mutations compared to their 
CA counterparts, thereby predicting a poorer 
therapeutic response from treatment with the 
tyrosine kinase inhibitors [12]. A subsequent study 
by Harada et el. reported a novel EGFR exon-20 
mutation in AA subjects [13]. In addition, they also 
identified five EGFR-activating mutations in eight 
AA cases who were either never or light smokes, 
whereas no EGFR mutation was detected among 
the heavy smokers. Interestingly, a couple of 
insertional EGFR gene mutations encompassing 
exon 20 such as N771GY and A767-V769dup were 

identified exclusively in the AA LC patients . Other 
than EGFR, N375S-MET gene mutation was 
detected in around 13% of East Asian LC patients 
and 2.6% CA LC patients but not in the AA LC 
patients [14]. Inactivation of STK11 gene, also known 
as LKB1, either due to deletion or insertions, have 
been reported to be more frequent in Caucasian 
Americans compared to African American and 
Asian NSLC patients [15,16]. A more recent study by 
Lusk et al. sequenced 193 AA LC cases for 
determining the mutational landscape and 
identified a panel of 88 distinctly mutated genes in 
addition to the commonly found LC-associated 
driver mutations [17]. Novel mutations in PABPC1, 
PMS2, CDC27, OXCT2, GSTM1, RHPN2, ZC3HC1 
and MLL3 genes were noted exclusively in the AA 
subjects. 

Figure 1. The landscape of gene mutations in lung cancer. Top 20 gene mutations identified in lung cancer 
patients. Data assembled with permission from the COSMIC database (https://cancer.sanger.ac.uk/cosmic). 
Asterisks indicate the genes, the mutation spectrum of which have been examined in various racial 
population. 

 



 
 
 
 
 

 
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Figure 2. Nature of somatic gene mutation observed in a large number of lung cancer sample pools as 
analyzed from the COSMIC database (https://cancer.sanger.ac.uk/cosmic). 

 

In a recent meta-analysis involving a total of 11,867 
AA, CA, Hispanic/Latina (HIS) and Asian patients, 
Costa et al. performed a comparative analysis of LC 
associated mutations in key genes, 
including EGFR, ALK, ROS-1 and BRAF [18]. The 
most frequently occurring mutations in the AA 
subjects involved EGFR (6%), BRAF (1%), and ALK 
(1%). However, the incidence of EGFR and BRAF 
mutations was lower in the AA subjects compared 
to the CA subjects. Another study in 116 LC cases by 
Hunt et al. reported a higher prevalence of KRAS 
mutations in the AA LC subjects compared to the 
CA LC subjects [19]. On the contrary, analyses of 121 
LC cases by Reinersman et al. reported a higher 
abundance of KRAS mutations among the CA LC 
subjects, compared to the AA LC subjects (26% vs. 
17%). Of note, this study also reported higher rate 
of EGFR gene mutations in the AA LC compared to 
the CA LC subjects (19% vs. 13%) [20]. More 
information about genetic mutations between CA 
and AA lung cancer patients is provided in Table 1. 

The TP53 gene is well regarded as the key regulator 
of genomic stability and the most frequently altered 
molecule in human cancers [21]. In a 
comprehensive analysis of 431 subjects, kytola et al. 
have reported a significantly higher frequency of 
P53 gene mutation in AA LC patients compared to 
the CA LC patients [22]. Moreover, significantly 
higher level of amplification of a 5-gene signature, 
including MCL1, RUNX1T1, CDK8, CAT6A, and 
RAD21, was noted in the AA LC cases, compared to 
the CA LC subjects. In another study, Mitchell et al. 
reported a higher frequency of mutations 
in PTPRT and JAK2 in AAs than CAs [23]. They 
detected PTPRT and JAK2 gene mutations in 24% 
(13/54) and 7.4% (4/54) AA LC cases, respectively, 
compared to 8% (30/381) and 2% (7/381) in CAs, 
respectively. Changes in copy number have also 
been examined in LC using high-resolution single-
nucleotide polymorphism arrays to decipher 
molecular alterations accumulated during lung 
tumorigenesis. Considerably higher frequency of 
copy number gain on 16p13.13 and 16p13.11 was 



 
 
 
 
 

 
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noted among the East Asian LC patients [14]. On the 
contrary, genomic loss in 19p13.3 and 19p13.11 
regions was noted to be higher in CA LC patients.  

Besides lung cancer, race-specific genetic 
heterogeneity is noted in other human malignanies 
as well. Mutation frequency was found to be 
appreciably different in AA and CA colorectal 
cancer patients for KRAS (AA:23-44%; CA:15-45%) 

and BRAF (AA:4-6%; CA:7-14%). Similarly, mutation 
frequency of BRAF was 75-80% in CA papillary 
thyroid carcinoma patients as compared to 48% in 
AA patients. In melanoma, mutation frequency of 
BRAF was 8% in AA relative to 21% in CA patients. 
Such striking differences are also noted for P53 in 
breast cancer patients with 43% mutation rate in AA 
compared to 26.7% in CA women [24]. 

 

Table 1. The spectrum of genetic mutations in Caucasian and African American lung cancer patients. 

Gene name Variant Frequency in patients Reference 

  Caucasian African American  

 
EGFR 
KRAS 

 
G2303A or S768N 

Codons 12 and 13 of exon 12 

(n1=102) 
17% 
21% 

(n=53) 
2% 
23% 

[12] 
 

 
EGFR 
KRAS 
BRAF 

PIK3CA 

 
- 
- 
- 
- 

(n=264) 
5.68% 
13.87% 
3.03% 
0.75% 

(n=245) 
4.89% 
12.87% 
2.44% 
0.81% 

[25] 
 

 
EGFRKRAS 

 

 
Exon 19 deletions and T2573G or L858R 

c.34G, c.35G and c.38G in codons 12 and 13 of KRAS 
 

 

(n=399) 
13.7% 
25% 

(n=67) 
4.8% 
30.6% 

[26] 
 

 
EGFR 

 
Exon 19 deletions 

(n=335) 
2% 

(n=137) 
7% 

[27] 
 

 
BRAF 

 
Point mutations in exon 11 or exon 15 

(n=108) 
13.72% 

(n=51) 
3.7% 

[28] 
 

 
EGFR 
BRAF 
ROS-1 
ALK 

 
Activating mutations 

- 
- 
- 

(n=9507) 
12% 
3% 
1% 
2% 

(n=3363) 
6% 
1% 
0% 
1% 

[18] 
 

 
EGFR 

KRAS 

 
Exon 19 deletions and Exon 21 (L858R) 

Mutation in codon 12 and 13 

(n=476) 
13% 
26% 

(n=121) 
19% 
17% 

[20] 
 

 
KRAS 

 
G→T transversion in codon 12 

(n=51) 
20% 

(n=60) 
37% 

[19] 
 

  (n=381) (n=52) [23] 



 
 
 
 
 

 
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TP53 
STK11 
RB1 

KRAS 
EGFR 

SMAD4 
PIK3CA 

- 
- 
- 
- 
- 
- 
- 

49% 
13% 
4% 
29% 
13% 
4% 
5% 

65% 
21% 
13% 
27% 
1% 
8% 
8% 

 

1Number of patients. 

In addition to the nuclear genetic alterations, 
changes in the mitochondrial genome and 
dysregulation of various mitochondrial functions 
also play a pivotal role in human tumorigenesis [29–
32]. Mitochondria are regarded as the powerhouse 
of the cells and generate cellular energy in the form 
of ATP [33]. In humans, mitochondria are 
maternally inherited and harbor their own DNA 
(mtDNA). The human mtDNA is a 16.5-kb double-
stranded closed circular molecule having 37 genes, 
which encode for 12S and 16S rRNAs, 22 tRNAs, and 
13 respiratory complex proteins (I, III, IV, and V) 
essential for the oxidative phosphorylation system 
(OXPHOS) function [33–36]. Because of the high 
copy number, mtDNA mutation detection is easier 
in cells compared to nuclear DNA. Only a handful 
number of studies have reported mtDNA mutations 
in LC, including our laboratory [37,38]. The 
frequency of mtDNA mutations and copy number 
is higher in Asian patients than in CA patients and 
associated with EGFR gene mutation [38]. Another 
study also reported alterations in mtDNA copy 
number in lung cancer [39], however, a 
comparative analysis of mtDNA copy number in CA 
LC and AA LC patients, particularly linking smoking 
habits remain to be determined. Moreover, the 
disparities in the alteration in the nuclear genes 
associated with OXPHOS function are also less well 
defined between AA LC and CA LC subjects. In an 
interesting recent study, which utilized TCGA 
datasets, nuclear DNA encoded mitochondrial 
OXPHOS pathway-associated genes were found to 
be upregulated in both lung adenocarcinoma and 

squamous cell carcinoma of AA patients compared 
to the subjects of European origin [40]. This study 
also identified a predominance of ERR1-PGC1α–
mediated transcriptional program enrichment, a 
key regulator of mitochondrial biogenesis in the AA 
LC subjects compared to the European American 
subjects. In addition to energy generation, 
mitochondria are involved in various critical cellular 
functions, including apoptosis, inflammation, innate 
and adaptive immune system, T cell function, 
macrophage polarization, mitophagy, calcium, and 
damage-associated molecular pattern (DAMP) 
signaling [29]. As a reason, alterations in 
mitochondrial metabolism and functions are 
regarded as cancer hallmarks. However, the 
differential molecular alteration pattern of these 
critical pathways remains to be determined in LC 
patients with different racial backgrounds. 

Conclusion and future perspective 
Although genetic differences have been reported 
among racially disparate populations, they have not 
been mechanistically linked to the observed 
disproportionate outcomes. With the power of 
next-generation deep sequencing of thousands of 
tissue samples, critical molecular pathways 
associated with lung cancer pathogenesis have 
been identified, and based on that knowledge, 
several new lines of targeted therapeutics are in 
place, and many are currently under clinical trials. 
Of note, these cataloged molecular changes can 
also be helpful to develop race-specific biomarkers 
for diagnosis, prognosis, and therapeutic guidance. 



 
 
 
 
 

 
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However, the alteration pattern of the majority of 
these molecules remains largely unknown in racially 
disparate populations. Moreover, there are some 
discrepancies in the outcome of the mutational 
frequency of crucial lung cancer-associated genes 
among various racial groups in some studies, which 
could be due to significant differences in sample 
size, methods used, and/or the specificity of the 
type of mutations analyzed. Notably, an in-depth 
analysis of a panel of potential molecular targets 
other than EGFR and KRAS, remains to be carried 
out in diverse racial populations. Moreover, in 
addition to the mutational landscape, analysis of 
genome-wide polymorphisms and profiling of 
genes that are differentially amplified or lost during 
lung tumorigenesis in various racial groups will also 
help further our understanding of the genetic basis 
of lung cancer health disparity. On the other hand, 
despite increasing and emerging evidence of 
alterations in mitochondrial DNA and nuclear genes 
targeting mitochondrial pathways in various human 
malignancies, their association with lung cancer 
health disparity has remained largely undefined. In 
the coming decades, with the advent and power of 
multi-omics technology, including single-cell 
genomics and proteogenomics, we hope to achieve 
appreciable success in characterizing the specific 
factors and molecular pathways contributing to the 
lung health disparity to ultimately reduce the 
disparity gaps. 

Acknowledgements 
This work is supported by funding from NIH/NCI 
[R01CA231925 (SS), and Mitchell Cancer Institute, 
University of South Alabama (AP, SS and SD).  

Conflict of interest 
The authors declare that they have no conflicts of 
interests. 

Authors’ Contribution 
Study design and oversight: SD, Data acquisition: 
SD, SA, KSV, APS, SS, Writing and Review: SD, SA, 
KSV, APS, SS. 

REFERENCES 
1  Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram 

I, Jemal A, et al. Global Cancer Statistics 2020: GLOBOCAN 
Estimates of Incidence and Mortality Worldwide for 36 
Cancers in 185 Countries. CA Cancer J Clin. 2021 DOI: 
10.3322/caac.21660 

2  American Cancer Society. American Cancer Society: 
Cancer Facts and Figures 2021. Atlanta, Ga Am Cancer 
Soc. 2021 

3  DeSantis CE, Miller KD, Goding Sauer A, Jemal A, Siegel 
RL. Cancer statistics for African Americans, 2019. CA 
Cancer J Clin. 2019 DOI: 10.3322/caac.21555 

4  Tyagi A, Sharma S, Wu K, Wu SY, Xing F, Liu Y, et al. 
Nicotine promotes breast cancer metastasis by stimulating 
N2 neutrophils and generating pre-metastatic niche in 
lung. Nat Commun. 2021 DOI: 10.1038/s41467-020-20733-
9 

5  Vu T, Jin L, Datta PK. Effect of cigarette smoking on 
Epithelial to Mesenchymal Transition (EMT) in lung cancer. 
J Clin Med. 2016 DOI: 10.3390/jcm5040044 

6  Zhao Y, Xu Y, Li Y, Xu W, Luo F, Wang B, et al. NF-κB-
Mediated Inflammation Leading to EMT via miR-200c is 
involved in cell transformation induced by cigarette smoke 
extract. Toxicol Sci. 2013 DOI: 10.1093/toxsci/kft150 

7  Takahashi H, Ogata H, Nishigaki R, Broide DH, Karin M. 
Tobacco Smoke Promotes Lung Tumorigenesis by 
Triggering IKKβ- and JNK1-Dependent Inflammation. 
Cancer Cell. 2010 DOI: 10.1016/j.ccr.2009.12.008 

8  Ho MK, Mwenifumbo JC, Al Koudsi N, Okuyemi KS, 
Ahluwalia JS, Benowitz NL, et al. Association of nicotine 
metabolite ratio and CYP2A6 genotype with smoking 
cessation treatment in African-American light smokers. 
Clin Pharmacol Ther. 2009 DOI: 10.1038/clpt.2009.19 

9  Turner MC, Andersen ZJ, Baccarelli A, Diver WR, Gapstur 
SM, Pope CA, et al. Outdoor air pollution and cancer: An 
overview of the current evidence and public health 
recommendations. CA Cancer J Clin. 2020 DOI: 
10.3322/caac.21632 

10  Ryan BM. Lung cancer health disparities. Carcinogenesis. 
2018 DOI: 10.1093/carcin/bgy047 

11  Dogan S, Shen R, Ang DC, Johnson ML, D’Angelo SP, Paik 
PK, et al. Molecular epidemiology of EGFR and KRAS 
mutations in 3,026 lung adenocarcinomas: Higher 
susceptibility of women to smoking-related KRAS-mutant 



 
 
 
 
 

 
www.companyofscientists.com/index.php/chd e8 Cancer Health Disparities 

RESEARCH 

cancers. Clin Cancer Res. 2012 DOI: 10.1158/1078-
0432.CCR-11-3265 

12  Leidner RS, Fu P, Clifford B, Hamdan A, Jin C, Eisenberg R, 
et al. Genetic abnormalities of the EGFR pathway in African 
American patients with non-small-cell lung cancer. J Clin 
Oncol. 2009 DOI: 10.1200/JCO.2009.23.1431 

13  Harada T, Lopez-Chavez A, Xi L, Raffeld M, Wang Y, 
Giaccone G. Characterization of epidermal growth factor 
receptor mutations in non-small-cell lung cancer patients 
of African-American ancestry. Oncogene. 2011 DOI: 
10.1038/onc.2010.545 

14  El-Telbany A, Ma PC. Cancer Genes in Lung Cancer: Racial 
Disparities: Are There Any? Genes and Cancer. 2012 DOI: 
10.1177/1947601912465177 

15  Koivunen JP, Kim J, Lee J, Rogers AM, Park JO, Zhao X, et 
al. Mutations in the LKB1 tumour suppressor are frequently 
detected in tumours from Caucasian but not Asian lung 
cancer patients. Br J Cancer. 2008 DOI: 
10.1038/sj.bjc.6604469 

16  Gill RK, Yang SH, Meerzaman D, Mechanic LE, Bowman 
ED, Jeon HS, et al. Frequent homozygous deletion of the 
LKB1/STK11 gene in non-small cell lung cancer. Oncogene. 
2011 DOI: 10.1038/onc.2011.98 

17  Lusk CM, Watza D, Dyson G, Craig D, Ratliff V, Wenzlaff 
AS, et al. Profiling the mutational landscape in known 
driver genes and novel genes in African American non–
small cell lung cancer patients. Clin Cancer Res. 2019 DOI: 
10.1158/1078-0432.CCR-18-2439 

18  Costa PA, Saul EE, Paul Y, Iyer S, da Silva LL, Tamariz L, et 
al. Prevalence of Targetable Mutations in Black Patients 
With Lung Cancer: A Systematic Review and Meta-
Analysis. JCO Oncol Pract. 2021 DOI: 10.1200/op.20.00961 

19  Hunt JD, Strimas A, Martin JE, Eyer M, Haddican M, Luckett 
BG, et al. Differences in KRAS mutation spectrum in lung 
cancer cases between African Americans and Caucasians 
after occupational or environmental exposure to known 
carcinogens. Cancer Epidemiol Biomarkers Prev. 2002 

20  Reinersman JM, Johnson ML, Riely GJ, Chitale DA, Nicastri 
AD, Soff GA, et al. Frequency of EGFR and KRAS mutations 
in lung adenocarcinomas in african americans. J Thorac 
Oncol. 2011 DOI: 10.1097/JTO.0b013e3181fb4fe2 

21  Rivlin N, Brosh R, Oren M, Rotter V. Mutations in the p53 
tumor suppressor gene: Important milestones at the 
various steps of tumorigenesis. Genes and Cancer. 2011 
DOI: 10.1177/1947601911408889 

22  Kytola V, Topaloglu U, Miller LD, Bitting RL, Goodman MM, 
D’Agostino RB, et al. Mutational landscapes of smoking-
related cancers in Caucasians and African Americans: 
Precision oncology perspectives at Wake Forest Baptist 
comprehensive Cancer Center. Theranostics. 2017 DOI: 
10.7150/thno.20355 

23  Mitchell KA, Nichols N, Tang W, Walling J, Stevenson H, 
Pineda M, et al. Recurrent PTPRT/JAK2 mutations in lung 
adenocarcinoma among African Americans. Nat 
Commun. 2019 DOI: 10.1038/s41467-019-13732-y 

24  Özdemir BC, Dotto GP. Racial Differences in Cancer 
Susceptibility and Survival: More Than the Color of the 
Skin? Trends in Cancer. 2017 DOI: 
10.1016/j.trecan.2017.02.002 

25  Campbell JD, Lathan C, Sholl L, Ducar M, Vega M, 
Sunkavalli A, et al. Comparison of prevalence and types of 
mutations in lung cancers among black and white 
populations. JAMA Oncol. 2017 DOI: 
10.1001/jamaoncol.2016.6108 

26  Bauml J, Mick R, Zhang Y, Watt CD, Vachani A, Aggarwal 
C, et al. Frequency of EGFR and KRAS mutations in patients 
with non small cell lung cancer by racial background: Do 
disparities exist? Lung Cancer. 2013 DOI: 
10.1016/j.lungcan.2013.05.011 

27  Bollig-Fischer A, Chen W, Gadgeel SM, Wenzlaff AS, Cote 
ML, Schwartz AG, et al. Racial diversity of actionable 
mutations in non-small cell lung cancer. J Thorac Oncol. 
2015 DOI: 10.1097/JTO.0000000000000420 

28  Heath EI, Lynce F, Xiu J, Ellerbrock A, Reddy SK, Obeid E, 
et al. Racial disparities in the molecular landscape of 
cancer. Anticancer Res. 2018 DOI: 
10.21873/anticanres.12466 

29  Dasgupta S. Mitochondrion: I am more than a fuel server. 
Ann Transl Med. 2019 DOI: 10.21037/atm.2019.08.22 

30  Yuan Y, Ju YS, Kim Y, Li J, Wang Y, Yoon CJ, et al. 
Comprehensive molecular characterization of 
mitochondrial genomes in human cancers. Nat Genet. 
2020 DOI: 10.1038/s41588-019-0557-x 

31  Hertweck KL, Dasgupta S. The landscape of mtDNA 
modifications in cancer: A tale of two cities. Front Oncol. 
2017 DOI: 10.3389/fonc.2017.00262 

32  Lu J, Sharma LK, Bai Y. Implications of mitochondrial DNA 
mutations and mitochondrial dysfunction in 
tumorigenesis. Cell Res. 2009 DOI: 10.1038/cr.2009.69 

33  Osellame LD, Blacker TS, Duchen MR. Cellular and 
molecular mechanisms of mitochondrial function. Best 
Pract Res Clin Endocrinol Metab. 2012 DOI: 
10.1016/j.beem.2012.05.003 

34  Friedman JR, Nunnari J. Mitochondrial form and function. 
Nature. 2014 DOI: 10.1038/nature12985 

35  Taanman JW. The mitochondrial genome: Structure, 
transcription, translation and replication. Biochim Biophys 
Acta - Bioenerg. 1999 DOI: 10.1016/S0005-2728(98)00161-
3 

36  Chaban Y, Boekema EJ, Dudkina N V. Structures of 
mitochondrial oxidative phosphorylation supercomplexes 



 
 
 
 
 

 
www.companyofscientists.com/index.php/chd e9 Cancer Health Disparities 

RESEARCH 

and mechanisms for their stabilisation. Biochim Biophys 
Acta - Bioenerg. 2014 DOI: 10.1016/j.bbabio.2013.10.004 

37  Dasgupta S, Yung RC, Westra WH, Rini DA, Brandes J, 
Sidransky D. Following mitochondrial footprints through a 
long mucosal path to lung cancer. PLoS One. 2009 DOI: 
10.1371/journal.pone.0006533 

38  Dasgupta S, Soudry E, Mukhopadhyay N, Shao C, Yee J, 
Lam S, et al. Mitochondrial DNA mutations in respiratory 
complex-I in never-smoker lung cancer patients 
contribute to lung cancer progression and associated with 
EGFR gene mutation. J Cell Physiol. 2012 DOI: 
10.1002/jcp.22980 

39  Choudhury AR, Singh KK. Mitochondrial determinants of 
cancer health disparities. Semin Cancer Biol. 2017 DOI: 
10.1016/j.semcancer.2017.05.001 

40  Piyarathna DWB, Balasubramanian A, Arnold JM, Lloyd 
SM, Karanam B, Castro P, et al. ERR1- And PGC1α-
associated mitochondrial alterations correlate with pan-
cancer disparity in African Americans. J Clin Invest. 2019 
DOI: 10.1172/JCI127579 

 


	Introduction
	Potential contributing factors associated with lung cancer disparity
	Genetic heterogeneity in lung cancer and its association with racial health disparity
	Conclusion and future perspective
	Acknowledgements
	Conflict of interest
	Authors’ Contribution

