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

[31] Association between Predicted Effects of TP53 Missense Variants on Protein Conformation and Their Phenotypic Presentation as Li-Fraumeni Syndrome or Hereditary Breast Cancer
Liu, Yaxuan
Axell, Olga
van Leeuwen, Tom
Konrat, Robert
Kharaziha, Pedram
Larsson, Catharina
Wright, Anthony P. H.
Bajalica-Lagercrantz, Svetlana
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (12)
[32] Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study)
Packwood, Kate
Martland, Guy
Sommerlad, Matthew
Shaw, Emily
Moutasim, Karwan
Thomas, Gareth
Bateman, Adrian C.
Jones, Louise
Haywood, Linda
Evans, D. Gareth
Birch, Jillian M.
Alsalmi, Ohud A.
Henderson, Alex
Poplawski, Nicola
Eccles, Diana M.
JOURNAL OF PATHOLOGY CLINICAL RESEARCH, 2019, 5 (03): : 189 - 198
[33] Clinical Features of Breast Cancer in South Korean Patients with Germline TP53 Gene Mutations
Alyami, Hassan
Yoo, Tae Kyung
Cheun, Jong Ho
Lee, Han Byoel
Jung, Sung Mi
Ryu, Jai Min
Bae, Soong June
Jeong, Joon
Yoon, Chang Ik
Ahn, Juneyoung
Paik, Pill Sun
Cho, Min Kyung
Park, Woo Chan
JOURNAL OF BREAST CANCER, 2021, 24 (02) : 175 - 182
[34] Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum
Fortuno, Cristina
Feng, Bing-Jian
Carroll, Courtney
Innella, Giovanni
Kohlmann, Wendy
Lazaro, Conxi
Brunet, Joan
Feliubadalo, Lidia
Iglesias, Silvia
Menendez, Mireia
Teule, Alex
Ballinger, Mandy L.
Thomas, David M.
Campbell, Ainsley
Field, Mike
Harris, Marion
Kirk, Judy
Pachter, Nicholas
Poplawski, Nicola
Susman, Rachel
Tucker, Kathy
Wallis, Mathew
Williams, Rachel
Cops, Elisa
Goldgar, David
James, Paul A.
Spurdle, Amanda B.
JCO PRECISION ONCOLOGY, 2024, 8
[35] Identification of tp53 gene mutations in sporadic, familial breast cancer cases and Li.Fraumeni syndrome. Is codon 72 polymorphism of tp53 gene can be consider as an important mutation marker
Aziz, I.
Ali, S.
Shakoori, A. R.
EJC SUPPLEMENTS, 2008, 6 (09): : 103 - 103
[36] Mosaic TP53 pathogenic variants on multi-gene hereditary cancer panel testing: Clinical characteristics and follow-up testing
Jackson, Sarah A.
Roberts, Maegan
Mester, Jessica L.
Marshall, Megan L.
Postula, Kristen J. Vogel
Stettner, Amy R.
Arvai, Kevin J.
Klein, Rachel T.
Wagner, Andrew F.
Hruska, Kathleen S.
JOURNAL OF CLINICAL ONCOLOGY, 2018, 36 (15)
[37] Genetic Testing of Breast Cancer Patients with Very Early-Onset Breast Cancer (≤30 Years) Yields a High Rate of Germline Pathogenic Variants, Mainly in the BRCA1, TP53, and BRCA2 Genes
Apostolou, Paraskevi
Dellatola, Vasiliki
Papathanasiou, Athanasios
Kalfakakou, Despoina
Fountzilas, Elena
Tryfonopoulos, Dimitrios
Karageorgopoulou, Sofia
Yannoukakos, Drakoulis
Konstantopoulou, Irene
Fostira, Florentia
CANCERS, 2024, 16 (13)
[38] Implementation of a pathology-supported genetic testing framework for return of research results to family members of deceased breast cancer patients with somatic TP53 variants
Moremi, K. E.
Scott, C. J.
de Jager, L. J.
Pienaar, R.
Zemlin, A. E.
Kotze, M. J.
BREAST, 2021, 56 : S64 - S65
[39] Implications of somatic TP53 and PIK3CA mutations in patients with metastatic breast cancer who underwent germline BRCA testing
Yam, Clinton
Barrera, Angelica Gutierrez
Huang, Davis
Lin, Xinyi
Litton, Jennifer K.
Arun, Banu
CANCER RESEARCH, 2018, 78 (04)
[40] Germline mutation in TP53 gene in a cohort of 2,561 Chinese high-risk breast cancer patients using multigene panel testing
Kwong, A.
Shin, V.
Au, C. H.
Ho, C.
Slavin, T.
Weitzel, J.
Chan, T. L.
Ma, E.
CANCER RESEARCH, 2019, 79 (04)

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