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

Hetvi Ganatra^#¹, Joecelyn Kirani Tan^#^{2

3}, Ana Simmons^#⁴, Carola Maria Bigogno^{5

6}, Vatsala Khurana⁷, Aruni Ghose^{5

8

9}, Adheesh Ghosh¹⁰, Ishika Mahajan¹¹, Stergios Boussios^{12

13

14

15

16}, Akash Maniam^{17

18

19}, Olubukola Ayodele^{20

21}

Affiliations

¹ Barts Cancer Institute, Cancer Research UK City of London, Queen Mary University of London, London, UK.
² School of Medicine, University of St. Andrews, Fife, Scotland, UK.
³ Andrews Oncology Society, Scotland, UK.
⁴ Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
⁵ Department of Medical Oncology, Barts Cancer Centre, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
⁶ British Oncology Network for Undergraduate Societies (BONUS), London, UK.
⁷ William Harvey Research Institute, Queen Mary University of London, London, UK.
⁸ Department of Medical Oncology, Medway NHS Foundation Trust, Gillingham, Kent, UK.
⁹ Department of Medical Oncology, Mount Vernon Cancer Centre, Mount Vernon and Watford NHS Trust, Watford, UK.
¹⁰ UCL Cancer Institute, University College London, London, UK.
¹¹ Department of Oncology, Lincoln Oncology Centre, Lincoln County Hospital, United Lincolnshire Hospitals NHS Trust, Lincoln, UK.
¹² Department of Medical Oncology, Medway NHS Foundation Trust, Gillingham, Kent, UK. stergiosboussios@gmail.com.
¹³ Faculty of Life Sciences & Medicine, School of Cancer & Pharmaceutical Sciences, King's College London, London, UK. stergiosboussios@gmail.com.
¹⁴ Kent and Medway Medical School, University of Kent, Canterbury, Kent, UK. stergiosboussios@gmail.com.
¹⁵ Faculty of Medicine, Health, and Social Care, Canterbury Christ Church University, Canterbury, UK. stergiosboussios@gmail.com.
¹⁶ AELIA Organization, 9th Km Thessaloniki-hermi, 57001, Thessaloniki, Greece. stergiosboussios@gmail.com.
¹⁷ Department of Medical Oncology, Portsmouth Hospitals University NHS Trust, Portsmouth, UK.
¹⁸ Faculty of Science and Health, School of Pharmacy and Biomedical Sciences, University of Portsmouth, Portsmouth, UK.
¹⁹ Caribbean Cancer Research Institute, Port of Spain, Trinidad and Tobago.
²⁰ Department of Medical Oncology, University Hospitals of Leicester NHS Trust, Leicester, UK.
²¹ Leicester Cancer Research Centre, University of Leicester, Leicester, UK.

^# Contributed equally.

PMID: 39190283
PMCID: PMC11489287
DOI: 10.1007/s12282-024-01628-9

Review

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

Hetvi Ganatra et al. Breast Cancer. 2024 Nov.

. 2024 Nov;31(6):999-1009.

doi: 10.1007/s12282-024-01628-9. Epub 2024 Aug 27.

Authors

Affiliations

¹ Barts Cancer Institute, Cancer Research UK City of London, Queen Mary University of London, London, UK.
² School of Medicine, University of St. Andrews, Fife, Scotland, UK.
³ Andrews Oncology Society, Scotland, UK.
⁴ Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
⁵ Department of Medical Oncology, Barts Cancer Centre, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
⁶ British Oncology Network for Undergraduate Societies (BONUS), London, UK.
⁷ William Harvey Research Institute, Queen Mary University of London, London, UK.
⁸ Department of Medical Oncology, Medway NHS Foundation Trust, Gillingham, Kent, UK.
⁹ Department of Medical Oncology, Mount Vernon Cancer Centre, Mount Vernon and Watford NHS Trust, Watford, UK.
¹⁰ UCL Cancer Institute, University College London, London, UK.
¹¹ Department of Oncology, Lincoln Oncology Centre, Lincoln County Hospital, United Lincolnshire Hospitals NHS Trust, Lincoln, UK.
¹² Department of Medical Oncology, Medway NHS Foundation Trust, Gillingham, Kent, UK. stergiosboussios@gmail.com.
¹³ Faculty of Life Sciences & Medicine, School of Cancer & Pharmaceutical Sciences, King's College London, London, UK. stergiosboussios@gmail.com.
¹⁴ Kent and Medway Medical School, University of Kent, Canterbury, Kent, UK. stergiosboussios@gmail.com.
¹⁵ Faculty of Medicine, Health, and Social Care, Canterbury Christ Church University, Canterbury, UK. stergiosboussios@gmail.com.
¹⁶ AELIA Organization, 9th Km Thessaloniki-hermi, 57001, Thessaloniki, Greece. stergiosboussios@gmail.com.
¹⁷ Department of Medical Oncology, Portsmouth Hospitals University NHS Trust, Portsmouth, UK.
¹⁸ Faculty of Science and Health, School of Pharmacy and Biomedical Sciences, University of Portsmouth, Portsmouth, UK.
¹⁹ Caribbean Cancer Research Institute, Port of Spain, Trinidad and Tobago.
²⁰ Department of Medical Oncology, University Hospitals of Leicester NHS Trust, Leicester, UK.
²¹ Leicester Cancer Research Centre, University of Leicester, Leicester, UK.

^# Contributed equally.

PMID: 39190283
PMCID: PMC11489287
DOI: 10.1007/s12282-024-01628-9

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.

Keywords: Breast cancer; Exome; Genome; Sequencing; Whole-exome sequencing; Whole-genome sequencing.

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Conflict of interest statement

The author declaees that have no conflict of interest.

Figures

**Fig. 1**
Pathophysiology of BC in association with risk factors (Alharbi et al. 2022)

**Fig. 2**
A BC susceptibility loci and genes. B Gene associated with BC

See this image and copyright information in PMC

References

1. Ghose A, Stanway S, Sirohi B, Mutebi M, Adomah S. Advanced breast cancer care: the current situation and global disparities. Semin Oncol Nurs. 2024;40: 151551. 10.1016/j.soncn.2023.151551. - PubMed
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;71:209–49. 10.3322/caac.21660. - PubMed
1. Cancer Research UK. Breast cancer statistics. 2015. Available at: https://www.cancerresearchuk.org/health-professional/cancer-statistics/s.... Accessed 07th March 2024.
1. Albeshan SM, Hossain SZ, Mackey MG, Brennan PC. Can breast self-examination and clinical breast examination along with increasing breast awareness facilitate earlier detection of breast cancer in populations with advanced stages at diagnosis? Clin Breast Cancer. 2020;20:194–200. 10.1016/j.clbc.2020.02.001. - PubMed
1. Ghose A, Basak S, Agarwal T. Self-breast examination for breast cancer screening: the Indian story. Indian J Cancer. 2022;59:1–3. 10.4103/ijc.ijc_447_22. - PubMed

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Medical