Abstract
Since BRCA mutations are only responsible for 10-20% of cases of breast cancer in patients with early-onset or a family history and since next-generation sequencing technology allows the simultaneous sequencing of a large number of target genes, testing for multiple cancer-predisposing genes is now being considered, but its significance in clinical practice remains unclear. We then developed a sequencing panel containing 68 genes that had cancer risk association for patients with early-onset or familial breast cancer. A total of 133 patients were enrolled and 30 (22.6%) were found to carry germline deleterious mutations, 9 in BRCA1, 11 in BRCA2, 2 in RAD50, 2 in TP53 and one each in ATM, BRIP1, FANCI, MSH2, MUTYH, and RAD51C. Triple-negative breast cancer (TNBC) was associated with the highest mutation rate (45.5%, p = 0.025). Seven of the 9 BRCA1 mutations and the single FANCI mutation were in the TNBC group; 9 of the 11 BRCA2, 1 of the 2 RAD50 as well as BRIP1, MSH2, MUTYH, and RAD51C mutations were in the hormone receptor (HR)(+)Her2(-) group, and the other RAD50, ATM, and TP53 mutations were in the HR(+)Her2(+) group. Mutation carriers were considered as high-risk to develop malignancy and advised to receive cancer screenin...Continue Reading
References
May 14, 1999·Human Genetics·S S LiJ H Tsai
Sep 28, 2001·The EMBO Journal·A GuarnéW Yang
Jul 19, 2002·American Journal of Medical Genetics·Alfred G Knudson
Jun 1, 2004·Twin Research : the Official Journal of the International Society for Twin Studies·Isabella LocatelliAnatoli I Yashin
Jul 21, 2004·Journal of Computational Chemistry·Eric F PettersenThomas E Ferrin
Nov 23, 2005·Bioinformatics·Konstantin ArnoldTorsten Schwede
Mar 9, 2006·Nucleic Acids Research·Ewy MatheSean V Tavtigian
Mar 22, 2006·International Journal of Cancer. Journal International Du Cancer·Athena MatakidouUNKNOWN GELCAPS Consortium
Oct 25, 2006·Breast Cancer Research and Treatment·Jana ProkopcovaPetr Pohlreich
Apr 3, 2007·Oncogene·A PetitjeanM Olivier
May 3, 2008·Cancer Research·Daniel J FarrugiaFergus J Couch
Oct 28, 2008·Human Mutation·Sharon E PlonUNKNOWN IARC Unclassified Genetic Variants Working Group
Feb 26, 2009·Cancer·Michael J HallWalter W Noll
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Jun 10, 2009·Bioinformatics·Heng LiUNKNOWN 1000 Genome Project Data Processing Subgroup
Jun 30, 2009·Nature Protocols·Prateek KumarPauline C Ng
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Jul 21, 2010·Genome Research·Aaron McKennaMark A DePristo
Jun 28, 2011·Carcinogenesis·Tasha R SmithJennifer J Hu
Jul 19, 2011·Science·Woo JooNikola P Pavletich
Sep 13, 2011·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Shadia JalalJohn J Turchi
Sep 21, 2011·Cancer·Yonglan ZhengOlufunmilayo I Olopade
Jan 24, 2012·Gynecologic Oncology·Kathryn P Pennington, Elizabeth M Swisher
Jan 27, 2012·Journal of Human Genetics·Wen-Hong KuoKing-Jen Chang
Oct 24, 2012·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Christoph EngelHans F A Vasen
Jan 19, 2013·Mutagenesis·Laura SpugnesiAlvaro Galli
Feb 7, 2013·CA: a Cancer Journal for Clinicians·Carol DeSantisAhmedin Jemal
Feb 9, 2013·Mutation Research·Michael A EdelbrockKandace J Williams
Apr 11, 2013·Familial Cancer·Juana V Martín-López, Richard Fishel
May 30, 2013·DNA and Cell Biology·Fei-fei HanLi-hong Liu
Sep 17, 2013·The Oncologist·Jessica L MesterCharis Eng
Feb 26, 2014·BMC Systems Biology·Takahiro MimoriMasao Nagasaki
Apr 16, 2014·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Allison W KurianJames M Ford
Jul 18, 2014·Annals of Surgical Oncology·David Euhus
Aug 8, 2014·The New England Journal of Medicine·Antonis C AntoniouMarc Tischkowitz
Sep 6, 2014·Journal of the National Comprehensive Cancer Network : JNCCN·Mary B DalyUNKNOWN National comprehensive cancer network
Dec 3, 2014·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Fergus J CouchPeter A Fasching
Citations
Sep 15, 2016·Scientific Reports·Reham HelwaStian Knappskog
Mar 24, 2018·BMC Cancer·Yong Alison WangAn-Suei Yang
Aug 24, 2016·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Steven M Sorscher
Jan 13, 2018·Future Oncology·Xifeng YinBinghai Chen
May 5, 2018·International Journal of Cancer. Journal International Du Cancer·Cong FanYuntao Xie
Jul 25, 2018·Human Mutation·Li DongXishan Hao
Sep 29, 2018·Cancers·Rosalía Quezada UrbanFelipe Vaca Paniagua
Sep 22, 2018·Human Mutation·Cristina FortunoAmanda B Spurdle
Sep 30, 2017·PloS One·Pi-Lin SungChi-Ying F Huang
Aug 6, 2019·Journal of Oncology·Darrell L EllsworthRachel E Ellsworth
Jan 21, 2020·Cancer Science·Po-Han LinChiun-Sheng Huang
Sep 16, 2017·Advances in Anatomic Pathology·Lien N Hoang, Blake C Gilks
Feb 9, 2017·Oncotarget·Sung-Hsin KuoChiun-Sheng Huang
Jul 19, 2020·Genes·Malwina Suszynska, Piotr Kozlowski
Sep 1, 2020·PloS One·Madison R BishopNancy D Merner
Sep 29, 2020·Breast Cancer : the Journal of the Japanese Breast Cancer Society·Gabriel BandeiraOswaldo Keith Okamoto
Jan 11, 2017·Cancer Medicine·Po-Han LinChang-Fang Chiu
Dec 31, 2018·BMC Cancer·Yosr HamdiLilia Romdhane
Jun 18, 2020·Frontiers in Oncology·Aleksey G NikitinMarat G Gordiev
Sep 6, 2020·Breast Cancer : the Journal of the Japanese Breast Cancer Society·Emilia Rogoża-JaniszewskaTadeusz Dębniak
Nov 3, 2017·Hereditary Cancer in Clinical Practice·Wenjing JianXianming Wang
Aug 24, 2018·Molecular Biology Reports·M Aravind KumarM Lakshmi Narasu
Feb 19, 2019·Cancer Science·Libo YangHong Bu
May 16, 2017·Annual Review of Genomics and Human Genetics·Payal D Shah, Katherine L Nathanson
May 16, 2017·Breast Cancer Research and Treatment·Seth K RummelRachel E Ellsworth
Sep 21, 2018·JCO Precision Oncology·Arielle L HeekeClaudine Isaacs
Jan 11, 2020·Frontiers in Oncology·Javier OliverFelipe Vaca Paniagua
Aug 21, 2019·Frontiers in Oncology·Gulnur ZhunussovaLeyla Djansugurova
Sep 23, 2020·Journal of Clinical Medicine·Aldo GermaniMaria Piane
May 13, 2018·International Journal of Cancer. Journal International Du Cancer·Jun-Yan LiJun Jiang
Feb 14, 2019·Cold Spring Harbor Molecular Case Studies·Jianling JiXiaowu Gai
Oct 31, 2020·Pancreas·Xi-Yu WangXiao-Yu Yin
Dec 17, 2020·Frontiers in Oncology·Ye HanCaigang Liu
Jul 6, 2021·Frontiers in Genetics·Neus Font-PorteriasDavid Comas
Jul 9, 2021·Frontiers in Molecular Biosciences·Jiasheng ChianSan Ming Wang
Jul 3, 2021·Cancers·Chia-Jung LiPei-Yi Chu
Aug 20, 2021·Journal of Maxillofacial and Oral Surgery·S Vinod NairRavindran Ankathil