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

被引：0

作者：

Ganatra, Hetvi ^{[1
]}

Tan, Joecelyn Kirani ^{[2
,3
]}

Simmons, Ana ^{[4
]}

Bigogno, Carola Maria ^{[5
,6
]}

Khurana, Vatsala ^{[7
]}

Ghose, Aruni ^{[5
,8
,9
]}

Ghosh, Adheesh ^{[10
]}

Mahajan, Ishika ^{[11
]}

Boussios, Stergios ^{[8
,12
,13
,14
,15
]}

Maniam, Akash ^{[16
,17
,18
]}

Ayodele, Olubukola ^{[19
,20
]}

机构：

[1] Queen Mary Univ London, Barts Canc Inst, Canc Res UK City London, London, England

[2] Univ St Andrews, Sch Med, Fife, Scotland

[3] Andrews Oncol Soc, St Andrews, Scotland

[4] Univ Manchester, Fac Biol Med & Hlth, Manchester, England

[5] Barts Hlth NHS Trust, St Bartholomews Hosp, Barts Canc Ctr, Dept Med Oncol, London, England

[6] British Oncol Network Undergrad Soc BONUS, London, England

[7] Queen Mary Univ London, William Harvey Res Inst, London, England

[8] Medway NHS Fdn Trust, Dept Med Oncol, Gillingham, Kent, England

[9] Mt Vernon & Watford NHS Trust, Mt Vernon Canc Ctr, Dept Med Oncol, Watford, England

[10] UCL, UCL Canc Inst, London, England

[11] United Lincolnshire Hosp NHS Trust, Lincoln Cty Hosp, Lincoln Oncol Ctr, Dept Oncol, Lincoln, England

[12] Kings Coll London, Fac Life Sci & Med, Sch Canc & Pharmaceut Sci, London, England

[13] Univ Kent, Kent & Medway Med Sch, Canterbury, Kent, England

[14] Canterbury Christ Church Univ, Fac Med Hlth & Social Care, Canterbury, England

[15] AELIA Org, 9th Km Thessaloniki Hermi, Thessaloniki 57001, Greece

[16] Portsmouth Hosp Univ NHS Trust, Dept Med Oncol, Portsmouth, England

[17] Univ Portsmouth, Fac Sci & Hlth, Sch Pharm & Biomed Sci, Portsmouth, England

[18] Caribbean Canc Res Inst, Port Of Spain, Trinidad Tobago

[19] Univ Hosp Leicester NHS Trust, Dept Med Oncol, Leicester, England

[20] Univ Leicester, Leicester Canc Res Ctr, Leicester, England

来源：

BREAST CANCER | 2024年

关键词：

Sequencing; Breast cancer; Exome; Genome; Whole-genome sequencing; Whole-exome sequencing; CHEMOTHERAPY; PROGNOSIS; MUTATION; GENETICS; GENES;

D O I：

10.1007/s12282-024-01628-9

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页数：11

共 50 条

[1] Whole-genome and whole-exome sequencing in neurological diseases
Foo, Jia-Nee
Liu, Jian-Jun
Tan, Eng-King
[J]. NATURE REVIEWS NEUROLOGY, 2012, 8 (09) : 508 - 517
[2] Whole-genome and whole-exome sequencing in neurological diseases
Jia-Nee Foo
Jian-Jun Liu
Eng-King Tan
[J]. Nature Reviews Neurology, 2012, 8 : 508 - 517
[3] Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
Belkadi, Aziz
Bolze, Alexandre
Itan, Yuval
Cobat, Aurelie
Vincent, Quentin B.
Antipenko, Alexander
Shang, Lei
Boisson, Bertrand
Casanova, Jean-Laurent
Abel, Laurent
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2015, 112 (17) : 5473 - 5478
[4] Achieving reproducibility and accuracy in cancer mutation detection with whole-genome and whole-exome sequencing
Xiao, Wenming
[J]. CANCER RESEARCH, 2019, 79 (13)
[5] Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy
Francesco Mazzarotto
Iacopo Olivotto
Roddy Walsh
[J]. Cardiovascular Drugs and Therapy, 2020, 34 : 241 - 253
[6] Whole-Genome and Whole-Exome Sequencing in Hereditary Cancer Impact on Genetic Testing and Counseling
O'Daniel, Julianne M.
Lee, Kristy
[J]. CANCER JOURNAL, 2012, 18 (04): : 287 - 292
[7] Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing
Xiao, Wenming
Ren, Luyao
Chen, Zhong
Fang, Li Tai
Zhao, Yongmei
Lack, Justin
Guan, Meijian
Zhu, Bin
Jaeger, Erich
Kerrigan, Liz
Blomquist, Thomas M.
Hung, Tiffany
Sultan, Marc
Idler, Kenneth
Lu, Charles
Scherer, Andreas
Kusko, Rebecca
Moos, Malcolm
Xiao, Chunlin
Sherry, Stephen T.
Abaan, Ogan D.
Chen, Wanqiu
Chen, Xin
Nordlund, Jessica
Liljedahl, Ulrika
Maestro, Roberta
Polano, Maurizio
Drabek, Jiri
Vojta, Petr
Koks, Sulev
Reimann, Ene
Madala, Bindu Swapna
Mercer, Timothy
Miller, Chris
Jacob, Howard
Truong, Tiffany
Moshrefi, Ali
Natarajan, Aparna
Granat, Ana
Schroth, Gary P.
Kalamegham, Rasika
Peters, Eric
Petitjean, Virginie
Walton, Ashley
Shen, Tsai-Wei
Talsania, Keyur
Vera, Cristobal Juan
Langenbach, Kurt
de Mars, Maryellen
Hipp, Jennifer A.
[J]. NATURE BIOTECHNOLOGY, 2021, 39 (09) : 1141 - +
[8] Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy
Mazzarotto, Francesco
Olivotto, Iacopo
Walsh, Roddy
[J]. CARDIOVASCULAR DRUGS AND THERAPY, 2020, 34 (02) : 241 - 253
[9] Readability of informed consent forms for whole-exome and whole-genome sequencing
Niemiec E.
Vears D.F.
Borry P.
Howard H.C.
[J]. Journal of Community Genetics, 2018, 9 (2) : 143 - 151
[10] Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing
Wenming Xiao
Luyao Ren
Zhong Chen
Li Tai Fang
Yongmei Zhao
Justin Lack
Meijian Guan
Bin Zhu
Erich Jaeger
Liz Kerrigan
Thomas M. Blomquist
Tiffany Hung
Marc Sultan
Kenneth Idler
Charles Lu
Andreas Scherer
Rebecca Kusko
Malcolm Moos
Chunlin Xiao
Stephen T. Sherry
Ogan D. Abaan
Wanqiu Chen
Xin Chen
Jessica Nordlund
Ulrika Liljedahl
Roberta Maestro
Maurizio Polano
Jiri Drabek
Petr Vojta
Sulev Kõks
Ene Reimann
Bindu Swapna Madala
Timothy Mercer
Chris Miller
Howard Jacob
Tiffany Truong
Ali Moshrefi
Aparna Natarajan
Ana Granat
Gary P. Schroth
Rasika Kalamegham
Eric Peters
Virginie Petitjean
Ashley Walton
Tsai-Wei Shen
Keyur Talsania
Cristobal Juan Vera
Kurt Langenbach
Maryellen de Mars
Jennifer A. Hipp
[J]. Nature Biotechnology, 2021, 39 : 1141 - 1150

← 1 2 3 4 5 →