Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia

被引:0
作者
Dorra Ben Ayed-Guerfali
Wala Ben Kridis-Rejab
Nihel Ammous-Boukhris
Wajdi Ayadi
Slim Charfi
Afef Khanfir
Tahia Sellami-Boudawara
Mounir Frikha
Jamel Daoud
Raja Mokdad-Gargouri
机构
[1] University of Sfax,Center of Biotechnology of Sfax
[2] Habib Bourguiba Hospital,Department of Oncology
[3] Habib Bourguiba Hospital,Department of Anatomo
[4] Habib Bourguiba Hospital,pathology
来源
Journal of Translational Medicine | / 19卷
关键词
Breast cancer; Ovarian cancer; BRCA1; BRCA2; Germline mutation; Genetic testing;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 251 条
[31]  
Jasin M(2012) founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile Nucleic Acids Res 5 14800-3258
[32]  
Antoniou A(2015)Identification of novel BRCA founder mutations in Middle Eastern breast cancer patients using capture and Sanger sequencing analysis Sci Rep. 55 601-2012
[33]  
Pharoah PD(2016)BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African Genes Chromosom Cancer 24 3652-2517
[34]  
Narod S(2005)BRCA1 and BRCA2 germline mutation spectrum in hereditary breast/ovarian cancer families from Maghrebian countries Oncogene 19 285-undefined
[35]  
Risch HA(2018)High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast-ovarian cancer prevention and control J Mol Sci. 20 859-undefined
[36]  
Eyfjord JE(2016)BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families J. Natl. Cancer. 13 674-undefined
[37]  
Hopper JL(2020)Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases BMC Cancer. 20 3254-undefined
[38]  
Brose MS(2016)Reevaluation of the Nat Rev Clin Oncol. 145 707-undefined
[39]  
Rebbeck TR(2013) truncating allele c.9976A > T (pLys3326Ter) in a familial breast cancer context Ann Surg Oncol 141 2005-undefined
[40]  
Calzone KA(2014)The role of germline alterations in the DNA damage response genes  Breast Cancer Res Treat 18 265-undefined