Li-Fraumeni: "Genetic testing of Breast/ovarian cancer patients unmask familial pathogenic germline variants in TP53 gene. Clinical implications and family counselling"

被引：0

作者：

Zavos, A. ^{[1
]}

Natsiopoulos, I. ^{[2
]}

Papazisis, K. ^{[3
]}

Giassas, S. ^{[4
]}

Tsiftsoglou, A. ^{[5
]}

Bouzarelou, D. ^{[6
]}

Meintani, A. ^{[6
]}

Katseli, A. ^{[6
]}

Potska, V. ^{[6
]}

Dogka, C. ^{[6
]}

Tsaousis, G. ^{[6
]}

Iosifidou, R. ^{[7
]}

Lalla, E. ^{[7
]}

Askoxylakis, I. ^{[8
]}

Zairi, E. ^{[5
]}

Kotsakis, A. ^{[9
]}

Tryfonopoulos, D. ^{[10
]}

Christopoulou, A. ^{[11
]}

Ntokou, A. ^{[12
]}

Mandrekas, K. ^{[4
]}

Bafaloukos, D. ^{[13
]}

Sfika, A. ^{[4
]}

Zakopoulou, R. ^{[14
]}

Markellou, P.

Papadopoulou, E. ^{[6
]}

Nasioulas, G. ^{[6
]}

机构：

[1] Univ Hosp Larissa, Dept Obstet & Gynecol, Larisa, Larissa, Greece

[2] Interbalkan Med Ctr Thessaloniki, Thessaloniki, Greece

[3] EuroMed Gen Clin, Thessaloniki, Greece

[4] IASO, Gen Matern & Gynecol Clin, Athens, Greece

[5] St Lukes Hosp, Thessaloniki, Greece

[6] GeneKor Med SA, Gerakas, Greece

[7] Theagenio Anticanc Hosp, Thessaloniki, Greece

[8] Crete Univ Hosp, Med Sch, Dept Surg Oncol, Iraklion, Greece

[9] Univ Gen Hosp Larissa, Dept Med Oncol, Larisa, Greece

[10] Agios Savvas Anticanc Hosp, Dept Med Oncol, Athens, Greece

[11] St Andrews Gen Hosp Patras, Dept Med, Patras 26335, Greece

[12] Metaxa Canc Hosp, Piraeus, Greece

[13] Metropolitan Hosp, Oncol Dept 1, Athens, Greece

[14] Gen & Oncol Hosp Kifissia, Kifisia, Greece

来源：

BREAST | 2025年 / 80卷

关键词：

D O I：

10.1016/j.breast.2025.103979

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

P113

引用

页数：2

共 42 条

[1] Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome
Fortuno, Cristina
James, Paul A.
Spurdle, Amanda B.
HUMAN MUTATION, 2018, 39 (12) : 1764 - 1773
[2] Radiotherapy-induced malignancies in breast cancer patients with TP53 pathogenic germline variants (Li-Fraumeni syndrome)
Petry, Vanessa
Bonadio, Renata Colombo
Carneiro Cagnacci, Allyne Queiroz
Leite Senna, Luiz Antonio
Galvao Campos, Roberta da Nascimento
Cotti, Guilherme Cutait
Hoff, Paulo M.
Barisson Villares Fragoso, Maria Candida
Estevez-Diz, Maria del Pilar
FAMILIAL CANCER, 2020, 19 (01) : 47 - 53
[3] New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer
Evans, D. Gareth
Woodward, Emma R.
FAMILIAL CANCER, 2021, 20 (01) : 1 - 7
[4] New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer
D. Gareth Evans
Emma R. Woodward
Familial Cancer, 2021, 20 : 1 - 7
[5] A new germline TP53 gene mutation in a family with Li-Fraumeni syndrome
DockhornDwomiczak, B
Wolff, J
Poremba, C
Schafer, KL
Ritter, J
Gullotta, F
Jurgens, H
Bocker, W
EUROPEAN JOURNAL OF CANCER, 1996, 32A (08) : 1359 - 1365
[6] Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome.: Genetic counselling to healthy mutation
Balmaña, J
Nomdedéu, J
Díez, O
Sabaté, JM
Balil, A
Pericay, C
López, JJL
Brunet, J
Baiget, M
Alonso, C
MEDICINA CLINICA, 2002, 119 (13): : 497 - 499
[7] Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines
Danishevich, Anastasiia
Fedorova, Daria
Bodunova, Natalia
Makarova, Maria
Byakhova, Maria
Semenova, Anna
Galkin, Vsevolod
Litvinova, Maria
Nikolaev, Sergey
Efimova, Irina
Osinin, Pavel
Lisitsa, Tatyana
Khakhina, Anastasiya
Shipulin, German
Nasedkina, Tatiana
Shumilova, Syuykum
Gusev, Oleg
Bilyalov, Airat
Shagimardanova, Elena
Shigapova, Leyla
Nemtsova, Marina
Sagaydak, Olesya
Woroncow, Mary
Gadzhieva, Saida
Khatkov, Igor
HEREDITARY CANCER IN CLINICAL PRACTICE, 2025, 23 (01)
[8] Genetic testing and in silico analysis for familial cancer: through analysis of TP53 gene for Li-Fraumeni syndrome
Tamura, Kazuo
CANCER SCIENCE, 2018, 109 : 861 - 861
[9] A novel germline mutation of TP53 with breast cancer diagnosed as Li-Fraumeni syndrome
Kai, Masaya
Kubo, Makoto
Shikada, Sawako
Hayashi, Saori
Morisaki, Takafumi
Yamada, Mai
Takao, Yuka
Shimazaki, Akiko
Harada, Yurina
Kaneshiro, Kazuhisa
Mizuuchi, Yusuke
Shindo, Koji
Nakamura, Masafumi
SURGICAL CASE REPORTS, 2022, 8 (01)
[10] Radiotherapy-induced malignancies in breast cancer patients with TP53 pathogenic germline variants (Li–Fraumeni syndrome)
Vanessa Petry
Renata Colombo Bonadio
Allyne Queiroz Carneiro Cagnacci
Luiz Antonio Leite Senna
Roberta do Nascimento Galvão Campos
Guilherme Cutait Cotti
Paulo M. Hoff
Maria Candida Barisson Villares Fragoso
Maria del Pilar Estevez-Diz
Familial Cancer, 2020, 19 : 47 - 53

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