BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel

Templeton AR. The reality and importance of founder speciation in evolution. BioEssays. 2008;30(5):470–9.

Article  PubMed  Google Scholar 

Myerowitz R, Costigan FC. The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. J Biol Chem. 1988;263(35):18587–9.

Article  CAS  PubMed  Google Scholar 

Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet. 2000;24(3):283–6.

Article  CAS  PubMed  Google Scholar 

Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, et al. Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. Am J Hum Genet. 1993;52(3):609–15.

CAS  PubMed  PubMed Central  Google Scholar 

Hoglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg ML, et al. Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet. 1996;14(3):316–9.

Article  CAS  PubMed  Google Scholar 

Shiri-Sverdlov R, Oefner P, Green L, Baruch RG, Wagner T, Kruglikova A, et al. Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer. Hum Mutat. 2000;16(6):491–501.

Article  CAS  PubMed  Google Scholar 

Gorski B, Jakubowska A, Huzarski T, Byrski T, Gronwald J, Grzybowska E, et al. A high proportion of founder BRCA1 mutations in Polish breast cancer families. Int J Cancer. 2004;110(5):683–6.

Article  CAS  PubMed  Google Scholar 

Nguyen-Dumont T, Karpinski P, Sasiadek MM, Akopyan H, Steen JA, Theys D, et al. Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer? Genet Res (Camb). 2020;102:e6.

Article  CAS  PubMed  Google Scholar 

Alvarez C, Tapia T, Perez-Moreno E, Gajardo-Meneses P, Ruiz C, Rios M, et al. BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile. Oncotarget. 2017;8(43):74233–43.

Article  PubMed  PubMed Central  Google Scholar 

Drohan B, Roche CA, Cusack JC Jr, Hughes KS. Hereditary breast and ovarian cancer and other hereditary syndromes: using technology to identify carriers. Ann Surg Oncol. 2012;19(6):1732–7.

Article  PubMed  Google Scholar 

Edaily S, Abdel-Razeq H. Management Strategies of Breast Cancer Patients with BRCA1 and BRCA2 Pathogenic Germline Variants. Onco Targets Ther. 2022;15:815–26.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266(5182):66–71.

Article  CAS  PubMed  Google Scholar 

Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990;250(4988):1684–9.

Article  CAS  PubMed  Google Scholar 

Hauke J, Horvath J, Gross E, Gehrig A, Honisch E, Hackmann K, et al. Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer Med. 2018;7(4):1349–58.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Abdel-Razeq H. Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity! Oncol Rev. 2021;15(1):544.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Moyer VA, Force USPST. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: US Preventive Services Task Force recommendation statement. Ann Intern Med. 2014;160(4):271–81.

Article  PubMed  Google Scholar 

King MC, Levy-Lahad E, Lahad A. Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award. JAMA. 2014;312(11):1091–2.

Article  CAS  PubMed  Google Scholar 

Manchanda R, Legood R, Burnell M, McGuire A, Raikou M, Loggenberg K, et al. Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing. J Natl Cancer Inst. 2015;107(1):380.

Article  PubMed  Google Scholar 

Meshkani Z, Aboutorabi A, Moradi N, Langarizadeh M, Motlagh AG. Population or family history based BRCA gene tests of breast cancer? A systematic review of economic evaluations. Hered Cancer Clin Pract. 2021;19(1):35.

Article  PubMed  PubMed Central  Google Scholar 

GCaPPS. Genetic cancer prediction through population screening 2008–2016. ISRCTN: International Standard Randomised Controlled Trial Number, Version 2.0. Available from: https://www.isrctn.com/ISRCTN73338115. Accessed 30 June 2023.

Kowalik A, Siolek M, Kopczynski J, Krawiec K, Kalisz J, Zieba S, et al. BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study. PLoS ONE. 2018;13(7):e0201086.

Article  PubMed  PubMed Central  Google Scholar 

Szubański K. Science in Poland: science for the society. 2019. Available from: https://scienceinpoland.pl/en/news/news%2C77336%2Cvast-majority-people-poland-come-seven-european-clan-mothers.html#:~:text=The%20vast%20majority%20of%20people%20in%20Poland%20come,in%20Western%20Europe%2C%20especially%20in%20Spain%20and%20Portugal. Accessed 1  June 2023.

Abu-Helalah M, Azab B, Mubaidin R, Ali D, Jafar H, Alshraideh H, et al. BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan. Sci Rep. 2020;10(1):17573.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Abdel-Razeq H, Mansour A, Jaddan D. Breast Cancer Care in Jordan. JCO Glob Oncol. 2020;6:260–8.

Article  PubMed  Google Scholar 

Abdel-Razeq H, Tamimi F, Abujamous L, Edaily S, Abunasser M, Bater R, et al. Patterns and Prevalence of BRCA1 and BRCA2 Germline Mutations Among Patients with Triple-Negative Breast Cancer: Regional Perspectives. Cancer Manag Res. 2021;13:4597–604.

Article  PubMed  PubMed Central  Google Scholar 

Abdel-Razeq H, Abujamous L, Abunasser M, Edaily S, Bater R. Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan. Sci Rep. 2021;11(1):14906.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Abdel-Razeq H, Al-Omari A, Zahran F, Arun B. Germline BRCA1/BRCA2 mutations among high risk breast cancer patients in Jordan. BMC Cancer. 2018;18(1):152.

Article  PubMed  PubMed Central  Google Scholar 

Abdel-Razeq H, Abujamous L, Jadaan D. Patterns and Prevalence of Germline BRCA1 and BRCA2 Mutations among High-Risk Breast Cancer Patients in Jordan: A Study of 500 Patients. J Oncol. 2020;2020:8362179.

Article  PubMed  PubMed Central  Google Scholar 

Atoum MF, Al-Kayed SA. Mutation analysis of the breast cancer gene BRCA1 among breast cancer Jordanian females. Saudi Med J. 2004;25(1):60–3.

PubMed  Google Scholar 

Vishnubalaji R, Abdel-Razeq H, Gehani S, Albagha OME, Alajez NM. Identification of a Gene Panel Predictive of Triple-Negative Breast Cancer Response to Neoadjuvant Chemotherapy Employing Transcriptomic and Functional Validation. Int J Mol Sci. 2022;23(18):10901.

Article  CAS  PubMed  PubMed Central  Google Scholar 

National human genome institute. BIC BRCA2 data results 2022. last updated 2022. Available from: https://research.nhgri.nih.gov/projects/bic/Member/cgi-bin/bic_query_result.cgi?table=brca2_exons&nt=2482&base_change=del%20GACT. Accessed 3 March 2022.

BRCA Exchange. The ENIGMA Consortium. 2022. Available from: https://www.brcaexchange.org/. Cited 20 Jan 2022.

Google Scholar 

Breast Cancer Information Core. National Human Genome Research Institute. 2022. Available from: https://www.research.nhgri.nih.gov/bic/. Cited 20 Jan 2022.

Google Scholar 

GC-HBOC. German Consortium for Hereditary Breast and Ovarian Cancer. 2022. Available from: https://www.health-atlas.de/projects/2. Cited 20 Jan 2022.

Google Scholar 

ClinVar [database]. National center for biotechnology information, national library of medicine. Retrieved from : https://www.ncbi.nlm.nih.gov/clinvar/. Accessed 22 Jan 2022.

COSMIC. Catalogue Of Somatic Mutations In Cancer. Version 90. Wellcome Trust Sanger Institute. Retrieved from: https://cancer.sanger.ac.uk/cosmic. Accessed 20 Jan  2022.

Google Scholar 

dbSNP [database]. Single nucleotide polymorphism database. National Center for Biotechnology Information (NCBI), national library of medicine. Retrieved from : https://www.ncbi.nlm.nih.gov/snp/. Accessed 20 Jan  2022.

Reznick Levi G, Larom G, Ofen Glassner V, Ekhilevitch N, Sharon Swartzman N, Paperna T, et al. A recurrent pathogenic BRCA2 exon 5-11 duplication in the christian Arab population in Israel. Fam Cancer. 2021;20(4):309–14.

Diez O, Osorio A, Duran M, Martinez-Ferrandis JI, de la Hoya M, Salazar R, et al. Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat. 2003;22(4):301–12.

Article  CAS  PubMed  Google Scholar 

Sagi M, Eilat A, Ben Avi L, Goldberg Y, Bercovich D, Hamburger T, et al. Two BRCA1/2 founder mutations in Jews of Sephardic origin. Fam Cancer. 2011;10(1):59–63.

Article  PubMed  Google Scholar 

Torres D, Rashid MU, Gil F, Umana A, Ramelli G, Robledo JF, et al. High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. Breast Cancer Res Treat. 2007;103(2):225–32.

Article  CAS  PubMed  Google Scholar 

Salahat MA. Two Novel BRCA1 and BRCA2 mutations in Palestinian women affected with breast cancer. 2011.

Google Scholar 

Laitman Y, Friebel TM, Yannoukakos D, Fostira F, Konstantopoulou I, Figlioli G, et al. The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries. Hum Mutat. 2019;40(11):e1–23.

Article 

留言 (0)

沒有登入
gif