Cell-free DNA TAPS provides multimodal information for early cancer detection

e13072 Background: Tumor cells keep shedding DNA into blood stream. Here we present a retrospective study to investigate the potential of CIN in plasma cell-free DNA (cfDNA) as a minimal-invasive biomarker for early cancer detection and cancer treatment responses monitoring. Methods: To characterization cfDNA CIN, 160 plasma samples from non-cancer individuals and 569 from cancer patients, including tumors from the brain, respiratory tract, gastrointestinal tract, urinary tract, liver, gallbladder, female reproductive system, prostate, breast and sarcoma. cfDNA was extracted and sent to low-coverage whole genome sequencing by the Illumina X10, followed by CIN analyses by a customized workflow Ultrasensitive Chromosomal Instability Detector (UCAD). Results: In non-cancer individuals, increased CIN in cfDNA was found associated with active EBV infections(P<0.01) and HBV infection (P=0.042). No statistical significances were found for the other parameters, including age, hypertension, diabetes, chronic kidney diseases, family history of cancer and etc. cfDNA CIN increased along with the development of lung cancer lesions, from adenocarcinoma in-situ, minimal invasive adenocarcinoma, invasive adenocarcinoma (P=0.034) to relapsed cancer (P<0.01). The sensitivity of early lung cancer detection was 30.7%, 37.5%, 45.5%, 50.0% and 98.1% for AIS, MIA, IAC, SCC and relapsed lung cancer, at a specificity of 75%. cfDNA CIN levels did not show statistical differences regarding metastases sites. cfDNA CIN were further increased in relapsed breast cancer (P<0.01). The sensitivity of relapsed breast cancer detection was 73.3%, 94.4%, 89.6% and 80.0% for HER2+, Luminal A, Luminal B and triple negative breast cancer, at a specificity of 90%. In primary liver cancer, cfDNA CIN decreased after curative therapies, including R0 resections and liver transplant. R0 resections showed similar performance as compared to liver transplant (P=0.35) in terms of cfDNA CIN decreasing. Furthermore, cfDNA CIN was higher in patients after R0 resections (P=0.003) and liver transplant (P=0.03) than that of HBV-positive cancer-free patients, indicating the potential risk of disease relapses. For advanced stage patients, continuously increasing cfDNA CIN level was found associated with worse survival, and a decreasing trend predicting better prognosis vice versa. Conclusions: Plasma cfDNA CIN analysis might be a useful tool for cancer management.

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Early cancer detection using low-coverage whole-genome sequencing of cell-free DNA fragments.

Journal of Clinical Oncology ◽

10.1200/jco.2021.39.15_suppl.e22510 ◽

2021 ◽

Vol 39 (15_suppl) ◽

pp. e22510-e22510

Author(s):

Shunli Yang ◽

Pei Zhihua ◽

Jianing Yu ◽

Xiuyu Zhao ◽

Yiqian Liu ◽

...

Keyword(s):

Whole Genome Sequencing ◽

Cancer Patients ◽

Genome Sequencing ◽

Cancer Detection ◽

Early Cancer ◽

Early Cancer Detection ◽

Whole Genome ◽

Healthy Individuals ◽

Free Dna ◽

Low Coverage

e22510 Background: Recent advances in circulating cell-free DNA (cfDNA) of plasma have shown that tumor diagnosis based on tumor-specific genetic and epigenetic changes (e.g., somatic mutations, copy number variations, and DNA methylation) is a promising non-invasive method. However, the number of tumor-specific genomic variants identified by whole-genome sequencing (WGS) in early cancer patients is very limited. Moreover, the mutations generated by clonal hematopoiesis in cfDNA can further confound the detection of cancer-specific mutations. It has been shown that ctDNA and cfDNA fragments have differences in length distribution. Compared with a limited number of genomic mutations, cfDNA fragment size index (FSI) is more abundant and easier to be detected. Methods: We designed a novel method for fragment detection of plasma cfDNA based on low-coverage WGS. The fragment length differences between healthy individuals and tumor patients were systematically analyzed. The training dataset includes 50 healthy individuals and 354 patients from eight different cancers. After the data preprocessing, we calculated the weight of fragmental bins and built a model for distinguishing healthy individuals from cancer patients. An independent dataset involving 22 healthy controls and 340 cancer patients was used to validate the model. The performance of our method was measured by the area under the curve (AUC) using the one-versus-all approach. Results: In our analysis, a total of 504 markers were selected from the dataset for model construction. Our model performed well for all cancer types on both training (AUC = 0.804) and validation (AUC = 0.837) datasets. Conclusions: The good performance of our model in large-scale plasma samples demonstrates the potential clinical application of cfDNA fragment analysis in early cancer detection based on low-coverage WGS.

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Application Of Cancer Detection Crawler As An Early Cancer Detection Evaluation System

10.15405/epsbs.2020.12.05.92 ◽

2020 ◽

Author(s):

Siti Fara Fadila Binti Abd Razak

Keyword(s):

Cancer Detection ◽

Evaluation System ◽

Early Cancer ◽

Early Cancer Detection ◽

Detection Evaluation

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Characterization of fragment sizes, copy number aberrations and 4‐mer end motifs in cell‐free DNA of hepatocellular carcinoma for enhanced liquid biopsy‐based cancer detection

Molecular Oncology ◽

10.1002/1878-0261.13041 ◽

2021 ◽

Author(s):

Chao Jin ◽

Xiaonan Liu ◽

Wenyuan Zheng ◽

Liping Su ◽

Yang Liu ◽

...

Keyword(s):

Hepatocellular Carcinoma ◽

Cancer Detection ◽

Liquid Biopsy ◽

Copy Number ◽

Cell Free Dna ◽

Copy Number Aberrations ◽

Free Dna

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Small-area data on socioeconomic status and immigrant groups for evaluating equity of early cancer detection and care

Acta Oncologica ◽

10.1080/0284186x.2021.1878550 ◽

2021 ◽

pp. 1-6

Author(s):

Ulf Strömberg ◽

Brandon L. Parkes ◽

Amir Baigi ◽

Carl Bonander ◽

Anders Holmén ◽

...

Keyword(s):

Socioeconomic Status ◽

Cancer Detection ◽

Small Area ◽

Early Cancer ◽

Early Cancer Detection ◽

Area Data

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Dying To Be Men: Masculinity and Early Cancer Detection Among Nigerian Men

International Quarterly of Community Health Education ◽

10.1177/0272684x211004938 ◽

2021 ◽

pp. 0272684X2110049

Author(s):

Darlingtina Esiaka ◽

Candidus Nwakasi ◽

Kelsey Brodie ◽

Aaron Philip ◽

Kalu Ogba

Keyword(s):

Public Health ◽

Cancer Detection ◽

Attachment Styles ◽

Early Cancer ◽

Sub Saharan Africa ◽

Early Cancer Detection ◽

Anxious Attachment ◽

Incidence And Mortality ◽

Nigerian Men ◽

Sub Saharan

Cancer incidence and mortality in Nigeria are increasing at an alarming rate, especially among Nigerian men. Despite the numerous public health campaigns and education on the importance of early cancer detection in Nigeria, there exist high rate of fatal/advanced stage cancer diagnoses among Nigerian men, even among affluent Nigerian men. However, there is limited information on patterns of cancer screening and psychosocial predictors of early cancer detection behaviors among Nigerian men. In this cross-sectional study, we examined demographic and psychosocial factors influencing early cancer detection behaviors among Nigerian men. Participants (N = 143; Mage = 44.73) responded to survey assessing: masculinity, attachment styles, current and future cancer detection behaviors, and sociodemographic characteristics. We found that among the participants studied, education, masculinity and anxious attachment were significantly associated with current cancer detection behaviors. Additionally, education and anxious attachment were significantly associated with future cancer detection behaviors. Our finding is best served for clinicians and public health professionals, especially those in the field of oncology in Sub-Saharan Africa. Also, the study may be used as a groundwork for future research and health intervention programs targeting men in Sub-Saharan Africa.

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