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
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Open
Output statusPublished
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