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

Ganatra, Hetvi, Tan, Joecelyn Kirani, Simmons, Ana, Bigogno, Carola Maria, Khurana, Vatsala, Ghose, Aruni, Ghosh, Adheesh, Mahajan, Ishika, Boussios, Stergios, Maniam, Akash, and others. (2024) Applying whole-genome and whole-exome sequencing in breast cancer: a review of the landscape. Breast cancer, 31 (6). pp. 999-1009. ISSN 1340-6868. E-ISSN 1880-4233. (doi:10.1007/s12282-024-01628-9) (KAR id:107157)

PDF Publisher pdf Language: English This work is licensed under a Creative Commons Attribution 4.0 International License.
Download this file (PDF/924kB)	Preview
Request a format suitable for use with assistive technology e.g. a screenreader
Official URL: https://doi.org/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.

Item Type:	Article
DOI/Identification number:	10.1007/s12282-024-01628-9
Uncontrolled keywords:	Exome, Breast cancer, Genome, Whole-genome sequencing, Sequencing, Whole-exome sequencing
Subjects:	R Medicine
Divisions:	Divisions > Division of Natural Sciences > Kent and Medway Medical School
SWORD Depositor:	JISC Publications Router
Depositing User:	JISC Publications Router
Date Deposited:	25 Sep 2024 13:39 UTC
Last Modified:	05 Nov 2024 13:12 UTC
Resource URI:	https://kar.kent.ac.uk/id/eprint/107157 (The current URI for this page, for reference purposes)

University of Kent Author Information

Boussios, Stergios.

Creator's ORCID:	https://orcid.org/0000-0002-2512-6131
CReDIT Contributor Roles:

Depositors only (login required):

Altmetric

Download Statistics

Total unique views for this document in KAR since July 2020. For more details click on the image.