When cascade testing for familial variant seems inadequate to provide clinically actionable information for blood relatives

被引：1

作者：

Apostolou, Paraskevi ^{[1
]}

Fostira, Florentia ^{[1
]}

Fountzilas, George ^{[2
]}

Razis, Evangelia ^{[3
]}

Yannoukakos, Drakoulis ^{[1
]}

Konstantopoulou, Irene ^{[1
]}

机构：

[1] Natl Ctr Sci Res Demokritos, INRASTES, Mol Diagnost Lab, Athens, Greece

[2] Aristotle Univ Thessaloniki, Hellen Fdn Canc Res, Lab Mol Oncol, Thessaloniki, Greece

[3] Hygeia Hosp, Dept Med Oncol 3, Athens, Greece

来源：

CANCER GENETICS | 2021年 / 258卷

关键词：

D O I：

10.1016/j.cancergen.2021.08.003

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

引用

页码：49 / 50

页数：2

共 4 条

[1] One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene [J].

Fostira, Florentia ;

Kostantopoulou, Irene ;

Apostolou, Paraskevi ;

Papamentzelopoulou, Myrto S. ;

Papadimitriou, Christos ;

Faliakou, Eleni ;

Christodoulou, Christos ;

Boukovinas, Ioannis ;

Razis, Evangelia ;

Tryfonopoulos, Dimitrios ;

Barbounis, Vasileios ;

Vagena, Andromache ;

Vlachos, Ioannis S. ;

Kalfakakou, Despoina ;

Fountzilas, George ;

Yannoukakos, Drakoulis .

JOURNAL OF MEDICAL GENETICS, 2020, 57 (01) :53-61

[2] Prevalence and founder effect of the BRCA1 p.(Val1833Met) variant in the Greek population, with further evidence for pathogenicity and risk modification [J].

Papamentzelopoulou, Myrto ;

Apostolou, Paraskevi ;

Fostira, Florentia ;

Dimitrakakis, Constantine ;

Loutradis, Dimitris ;

Fountzilas, George ;

Yannoukakos, Drakoulis ;

Konstantopoulou, Irene .

CANCER GENETICS, 2019, 237 :90-96

[3] Does multilocus inherited neoplasia alleles syndrome have severe clinical expression? [J].

Stradella, Agostina ;

del Valle, Jesus ;

Rofes, Paula ;

Feliubadalo, Lidia ;

Grau Garces, Elia ;

Velasco, Angela ;

Gonzalez, Sara ;

Vargas, Gardenia ;

Izquierdo, Angel ;

Campos, Olga ;

Tornero, Eva ;

Navarro, Matilde ;

Balmana-Gelpi, Judith ;

Capella, Gabriel ;

Pineda, Marta ;

Brunet, Joan ;

Lazaro, Conxi .

JOURNAL OF MEDICAL GENETICS, 2019, 56 (08) :521-525

[4] Multilocus Inherited Neoplasia Alleles Syndrome A Case Series and Review [J].

Whitworth, James ;

Skytte, Anne-Bine ;

Sunde, Lone ;

Lim, Derek H. ;

Arends, Mark J. ;

Happerfield, Lisa ;

Frayling, Ian M. ;

van Minkelen, Rick ;

Woodward, Emma R. ;

Tischkowitz, Marc D. ;

Maher, Eamonn R. .

JAMA ONCOLOGY, 2016, 2 (03) :373-379

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