Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer

International Journal of Cancer. Journal International Du Cancer
Jun-Yan LiJun Jiang

Abstract

Multigene panel testing of breast cancer predisposition genes have been extensively conducted in Europe and America, which is relatively rare in Asia however. In this study, we assessed the frequency of germline mutations in 40 cancer predisposition genes, including BRCA1 and BRCA2, among a large cohort of Chinese patients with high hereditary risk of BC. From 2015 to 2016, consecutive BC patients from 26 centers of China with high hereditary risk were recruited (n = 937). Clinical information was collected and next-generation sequencing (NGS) was performed using blood samples of participants to identify germline mutations. In total, we acquired 223 patients with putative germline mutations, including 159 in BRCA1/2, 61 in 15 other BC susceptibility genes and 3 in both BRCA1/2 and non-BRCA1/2 gene. Major mutant non-BRCA1/2 genes were TP53 (n = 18), PALB2 (n = 11), CHEK2 (n = 6), ATM (n = 6) and BARD1 (n = 5). No factors predicted pathologic mutations in non-BRCA1/2 genes when treated as a whole. TP53 mutations were associated with HER-2 positive BC and younger age at diagnosis; and CHEK2 and PALB2 mutations were enriched in patients with luminal BC. Among high hereditary risk Chinese BC patients, 23.8% contained germline mutati...Continue Reading

References

Jun 8, 1999·Journal of the National Cancer Institute·J PetoM R Stratton
Feb 24, 2006·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Mark A JenkinsSteven Gallinger
Feb 12, 2009·Breast Cancer Research and Treatment·Zhanwei WangHongbing Shen
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Oct 1, 2009·Breast Cancer Research and Treatment·Konstantinos P Economopoulos, Theodoros N Sergentanis
Nov 20, 2009·Breast Cancer Research and Treatment·Marijke WasielewskiMieke Schutte
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Sep 2, 2010·Journal of Medical Genetics·J R F WilsonD M Eccles
Sep 3, 2010·JAMA : the Journal of the American Medical Association·Susan M DomchekTimothy R Rebbeck
Feb 24, 2011·Breast Cancer Research and Treatment·Magdalena RatajskaJanusz Limon
Jun 7, 2012·British Journal of Cancer·A JakubowskaUNKNOWN CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer
Aug 31, 2012·Journal of the National Cancer Institute·Aung Ko WinMark A Jenkins
Oct 31, 2012·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Maren WeischerStig E Bojesen
Mar 6, 2013·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Susan M DomchekMark E Robson
Mar 21, 2013·Breast Cancer Research : BCR·Aung Ko WinMark A Jenkins
Sep 10, 2013·Clinical Genetics·I KonstantopoulouD Yannoukakos
Feb 26, 2014·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Amy P M FinchSteven A Narod
Mar 29, 2014·Science·Sam Kean
Apr 16, 2014·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Allison W KurianJames M Ford
May 30, 2014·The Lancet Oncology·Lei FanPaul E Goss
Dec 3, 2014·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Fergus J CouchPeter A Fasching
Jan 27, 2015·Cancer Letters·Anna P SokolenkoEvgeny N Imyanitov
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
May 12, 2015·The Lancet Oncology·Cezary CybulskiUNKNOWN Polish Hereditary Breast Cancer Consortium
May 28, 2015·The New England Journal of Medicine·Douglas F EastonWilliam D Foulkes
Aug 26, 2015·Journal of Cellular and Molecular Medicine·Zijia SunXiaoxiang Guan
Jan 21, 2016·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Ella R ThompsonIan G Campbell
Mar 16, 2016·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Nadine TungJudy E Garber
Apr 2, 2016·Breast Cancer Research and Treatment·Lu YaoYuntao Xie
Sep 14, 2016·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Judith BalmañaSusan M Domchek

❮ Previous
Next ❯

Citations

Jan 8, 2019·International Journal of Cancer. Journal International Du Cancer·Piera RizzoloLaura Ottini
Feb 6, 2020·Cancer Research and Treatment : Official Journal of Korean Cancer Association·Hee-Chul ShinWonshik Han
Aug 14, 2020·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Liyao SunPing Liu
Sep 29, 2020·Breast Cancer : the Journal of the Japanese Breast Cancer Society·Gabriel BandeiraOswaldo Keith Okamoto
Apr 11, 2019·Molecular Genetics & Genomic Medicine·Xiaozhen WangZhimin Fan
Sep 1, 2021·BMC Cancer·Marek SzwiecTomasz Huzarski
Dec 4, 2021·Genome Medicine·Peh Joo HoMikael Hartman

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Cancer Sequencing

Several sequencing approaches are employed to understand and examine tumor development and progression. These include whole genome as well as RNA sequencing. Here is the latest research on cancer sequencing.

Breast Cancer: BRCA1 & BRCA2

Mutations involving BRCA1, found on chromosome 17, and BRCA2, found on chromosome 13, increase the risk for specific cancers, such as breast cancer. Discover the last research on breast cancer BRCA1 and BRCA2 here.

Breast Cancer: Risk Factors

Breast cancer is a multifactorial disease that is influenced by both environmental and genetic factors. Discover the latest research on the environmental and genetic risk factors for breast cancer here.

Ataxia telangiectasia

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.