Applying whole-genome and whole-exome sequencing in breast cancer: a review of the landscape

Journal article

Hetvi Ganatra, Joecelyn Kirani Tan, Ana Simmons, Carola Maria Bigogno, Vatsala Khurana, Aruni Ghose, Adheesh Ghosh, Ishika Mahajan, Boussios, S., Akash Maniam and Olubukola Ayodele 2024. Applying whole-genome and whole-exome sequencing in breast cancer: a review of the landscape. Breast Cancer.
AuthorsHetvi Ganatra, Joecelyn Kirani Tan, Ana Simmons, Carola Maria Bigogno, Vatsala Khurana, Aruni Ghose, Adheesh Ghosh, Ishika Mahajan, Boussios, S., Akash Maniam and Olubukola Ayodele
Abstract

Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are crucial within the context of breast cancer (BC) research. They play a role in the detection of predisposed genes, risk stratification, and identification of rare single nucleotide polymorphisms (SNPs). These technologies aid in the discovery of associations between various syndromes and BC, understanding the tumour microenvironment (TME), and even identifying unknown mutations that could be useful in future for personalised treatments. Genetic analysis can find the associated risk of BC and can be used in early screening, diagnosis, specific treatment plans, and prevention in patients who are at high risk of tumour formation. This article focuses on the application of WES and WGS, and how uncovering novel candidate genes associated with BC can aid in treating and preventing BC.

KeywordsSequencing; Breast cancer; Exome; Genome; Whole-genome sequencing; Whole-exome sequencing
Year2024
JournalBreast Cancer
PublisherSpringer
ISSN1340-6868
1880-4233
Official URLhttps://link.springer.com/article/10.1007/s12282-024-01628-9
Publication dates
Online27 Aug 2024
Publication process dates
Accepted19 Aug 2024
Deposited10 Oct 2024
Publisher's version
License
File Access Level
Open
Output statusPublished
Permalink -

https://repository.canterbury.ac.uk/item/99576/applying-whole-genome-and-whole-exome-sequencing-in-breast-cancer-a-review-of-the-landscape

Download files

Publisher's version
s12282-024-01628-9.pdf
License: CC BY-NC-ND 4.0
File access level: Open

  • 23
    total views
  • 21
    total downloads
  • 7
    views this month
  • 2
    downloads this month

Export as

Related outputs

An orthogonal approach for analysis of underivatized steroid hormones using ultrahigh performance supercritical fluid chromatography-mass spectrometry (UHPSFC-MS).
Devo, Perry, Cretu, Victoria, Radhakrishnan, Harsha, Hamilton-Pink, Darren, Boussios, Stergios and Ovsepian, S. 2024. An orthogonal approach for analysis of underivatized steroid hormones using ultrahigh performance supercritical fluid chromatography-mass spectrometry (UHPSFC-MS). Journal of Neural Transmission. https://doi.org/10.1007/s00702-024-02862-3
Bilateral dermoid ovarian cysts in a young woman - A case report and literature review
Pinnamaneni, Sravya, Sayani, Sunayana, Chilakuluri, Premsai and Boussios, Stergios 2024. Bilateral dermoid ovarian cysts in a young woman - A case report and literature review. Cancer diagnosis & prognosis. 4 (6), pp. 819-824. https://doi.org/10.21873/cdp.10402
Early adoption of innovation in HPV prevention strategies: closing the gap in cervical cancer.
Mahajan, Ishika, Kadam, Amogh, McCann, Lucy, Ghose, Aruni, Wakeham, Katie, Dhillon, Navjot Singh, Stanway, Susannah, Boussios, Stergios, Banerjee, Soirindhri, Priyadarshini, Ashwini, Sirohi, Bhawna, Torode, Julie S and Mitra, Swarupa 2024. Early adoption of innovation in HPV prevention strategies: closing the gap in cervical cancer. Ecancermedicalscience. 18, p. 1762. https://doi.org/10.3332/ecancer.2024.1762
Paediatric anatomical models in radiotherapy applications
Apte, V, Ghose, A, Linares, C A, Adeleke, S, Papadopoulos, V, Rassy, E and Boussios, S 2024. Paediatric anatomical models in radiotherapy applications. Clinical Oncology (Royal College of Radiologists (Great Britain)). https://doi.org/10.1016/j.clon.2024.06.051
Large language models in oncology: Revolution or cause for concern?
Caglayan, Aydin, Slusarczyk, Wojciech, Rabbani, Rukhshana Dina, Ghose, Aruni, Papadopoulos, Vasileios and Boussios, Stergios 2024. Large language models in oncology: Revolution or cause for concern? Current Oncology. 31 (4). https://doi.org/10.3390/curroncol31040137
Antibody drug conjugates in urological cancers: A review of the current landscape
Ghose, Aruni, Lapitan, Patricia, Apte, Vedika, Ghosh, Adheesh, Kandala, Abhinav, Basu, Sreejana, Parkes, Jo, Shinde, Sayali D, Boussios, Stergios, Sharma, Anand, Das, Prantik, Vasdev, Nikhil, Rebuzzi, Sara E, Ürün, Yüksel, Kanesvaran, Ravindran, Maniam, Akash and Banna, Giuseppe L 2024. Antibody drug conjugates in urological cancers: A review of the current landscape. Current Oncology Reports. https://doi.org/10.1007/s11912-024-01524-7
The application of radiomics and AI to molecular imaging for prostate cancer
Tapper, William, Carneiro, G., Mikropoulos, C., Thomas, Spencer A., Evans, P. and Boussios, S. 2024. The application of radiomics and AI to molecular imaging for prostate cancer. Journal of Personalized Medicine. 14 (3), p. 287. https://doi.org/10.3390/jpm14030287
Immunotherapy combined with standard therapies in head and neck squamous cell carcinoma - a meta-analysis
Eden, Daisy, Ghose, Aruni, Moschetta, Michele, Pérez-Fidalgo, José Alejandro, Rassy, Elie and Boussios, Stergios 2024. Immunotherapy combined with standard therapies in head and neck squamous cell carcinoma - a meta-analysis. Anticancer Research. 44 (3), pp. 861-878. https://doi.org/10.21873/anticanres.16880
Diagnostic biomarkers in ovarian cancer: advances beyond CA125 and HE4
Ghose, A., McCann, Lucy, Makker, S., Mukherjee, Uma, Gullapalli, Sri Vidya Niharika, Erekkath, Jayaraj, Shih, Stephanie, Mahajan, Ishika, Sanchez, Elisabet, Uccello, Mario, Moschetta, Michele, Adeleke, S. and Boussios, Stergios 2024. Diagnostic biomarkers in ovarian cancer: advances beyond CA125 and HE4. Therapeutic Advances in Medical Oncology. 16, p. 1758835924123225. https://doi.org/10.1177/17588359241233225
A rare case of metaplastic breast carcinoma from India: Towards precision oncology (Case Report)
Soirindhri Banerjee, Ishika Mahajan, Aruni Ghose, Stergios Boussios and Shivam Chakraborty 2024. A rare case of metaplastic breast carcinoma from India: Towards precision oncology (Case Report). Cancer Reports. https://doi.org/10.1002/cnr2.1997
Stage 3 N2 lung cancer: A multidisciplinary therapeutic conundrum
Lily Carter, Vedika Apte, Arushi Shukla, Aruni Ghose, Raj Mamidi, Alexandra Petohazi, Shania Makker, Soirindhri Banerjee, Stergios Boussios and Giuseppe L. Banna 2024. Stage 3 N2 lung cancer: A multidisciplinary therapeutic conundrum. Current Oncology Reports. 26, pp. 65-79.
Frontiers of molecular biology of cancer
Boussios, S., Sanchez, E. and Sheriff, M. 2023. Frontiers of molecular biology of cancer. International Journal of Molecular Sciences.
Frontiers of ovarian carcinosarcoma
Ismail, A., Choi, S. and Boussios, S. 2023. Frontiers of ovarian carcinosarcoma. Current Treatment Options in Oncology. https://doi.org/10.1007/s11864-023-01138-4
Astragaloside IV enhances the sensitivity of breast cancer stem cells to paclitaxel by inhibiting stemness
Ping Huang, Huachao Li, Liping Ren, Haimei Xie, Liushan Chen, Yuqi Liang, Yuyu Hu, Heloisa Sobreiro Selistre-de-Araujo, Stergios Boussios, Sachin R. Jhawar, Rutao Cui, Qian Zuo and Qianjun Chen 2023. Astragaloside IV enhances the sensitivity of breast cancer stem cells to paclitaxel by inhibiting stemness. Translational Cancer Research. 12 (12).
Hallmarks of the tumour microenvironment of gliomas and its interaction with emerging immunotherapy modalities
Christian A. Linares, Anjana Varghese, Aruni Ghose, Sayali D. Shinde, Sola Adeleke, Elisabet Sanchez, Matin Sheriff, Cyrus Chargari, Elie Rassy and Stergios Boussios 2023. Hallmarks of the tumour microenvironment of gliomas and its interaction with emerging immunotherapy modalities. International Journal of Molecular Sciences. 24 (17), p. 13215. https://doi.org/10.3390/ijms241713215
Prognostic factors in patients with metastatic spinal cord compression secondary to lung cancer—A retrospective UK single-centre study
Anna Vassiliou, Temidayo Osunronbi, Synthia Enyioma, Gerardo Rago, Afroditi Karathanasi, Aruni Ghose, Matin Sheriff, Christos Mikropoulos, Elisabet Sanchez, Michele Moschetta, Cyrus Chargari, Elie Rassy and Stergios Boussios 2023. Prognostic factors in patients with metastatic spinal cord compression secondary to lung cancer—A retrospective UK single-centre study. Cancers. 15 (18), p. 4432. https://doi.org/10.3390/cancers15184432
Exosomes in the diagnosis and treatment of renal cell cancer
Boussios, S., Devo, P., Goodall, Iain C A, Sirlantzis, Konstantinos, Ghose, A., Shinde, Sayali D, Papadopoulos, Vasileios, Sanchez, Elisabet, Rassy, E. and Ovsepian, Saak V 2023. Exosomes in the diagnosis and treatment of renal cell cancer. International Journal of Molecular Sciences. 24 (18), p. 14356. https://doi.org/10.3390/ijms241814356
Immunotherapy for advanced urothelial carcinoma (UC): rational and current evidence
Mario Uccello, Sola Adeleke, Michele Moschetta, Aruni Ghose and Stergios Boussios 2023. Immunotherapy for advanced urothelial carcinoma (UC): rational and current evidence. Annals of Palliative Medicine. https://doi.org/10.21037/apm-22-1350
Clinical challenges in the management of malignant ovarian germ cell tumours
Iqra Saani, Nitish Raj, Raja Sood, Shahbaz Ansari, Haider Abbas Mandviwala, Elisabet Sanchez and Stergios Boussios 2023. Clinical challenges in the management of malignant ovarian germ cell tumours. International Journal of Environmental Research and Public Health. 20 (12), p. 6089.
Impact of COVID-19 on cancer services and patients' outcomes: a retrospective single-center study
Baijaeek Sain, Arnab Gupta, Aruni Ghose, Sudip Halder, Samir Bhattacharya, Radha Raman Mondal, Subhamoy Paul, Chandrakanth Are and Stergios Boussios 2023. Impact of COVID-19 on cancer services and patients' outcomes: a retrospective single-center study. Annals of Translational Medicine. 11 (9). https://doi.org/10.21037/atm-22-5876
Advances in adoptive T-cell therapy for metastatic melanoma
Das, Aparimita, Ghose, Aruni, Naicker, Kevin, Sanchez, Elisabet, Chargari, Cyrus, Rassy, Elie and Boussios, S. 2023. Advances in adoptive T-cell therapy for metastatic melanoma. Current Research in Translational Medicine. 71 (3), p. 103404. https://doi.org/10.1016/j.retram.2023.103404
Prostate cancer - what about oligometastatic disease and stereotactic ablative radiotherapy? - a narrative review
Boussios, S., Saxby, H. and Mikropoulos, C. 2023. Prostate cancer - what about oligometastatic disease and stereotactic ablative radiotherapy? - a narrative review. Annals of Palliative Medicine. 12 (3). https://doi.org/10.21037/apm-22-828
HPV and cervical cancer: A review of epidemiology and screening uptake in the UK
Sunyoung Choi, Ayden Ismail, George Pappas-Gogos and Stergios Boussios 2023. HPV and cervical cancer: A review of epidemiology and screening uptake in the UK. Pathogens (Basel, Switzerland). 12 (2). https://doi.org/10.3390/pathogens12020298
Constrictive pericarditis–a cloak camouflaging lymphoma
Delanthabettu Venugopala, Nikhil Victor Dsouza, Vishak Acharya, Maneesh Rai, Chaithra Gowthuvalli Venkataramana and Stergios Boussios 2022. Constrictive pericarditis–a cloak camouflaging lymphoma. Hematology Reports. 15 (1), pp. 166-171. https://doi.org/10.3390/hematolrep15010017