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

[21] Case series of Li-Fraumeni syndrome: carcinogenic mechanisms in breast cancer with TP53 pathogenic variant carriers
Hosonaga, Mari
Habano, Eri
Arakawa, Hiromi
Kaneko, Keika
Nakajima, Takeshi
Hayashi, Naomi
Fukada, Ippei
Nakamura, Akira
Haruyama, Yurie
Maeda, Tetsuyo
Inari, Hitoshi
Kobayashi, Takayuki
Nakashima, Eri
Ueno, Takayuki
Takano, Toshimi
Takahashi, Shunji
Ohno, Shinji
Ueki, Arisa
BREAST CANCER, 2024, 31 (05) : 988 - 996
[22] TP53 pathogenic variants in colorectal cancer patients in absence of Li-Fraumeni-associated phenotypes
Terradas, M.
Mur, P.
Belhadj, S.
Woodward, E. R.
Burghel, G. J.
Munoz-Torres, P. M.
Quintana, I.
Navarro, M.
Brunet, J.
Lazaro, C.
Pineda, M.
Moreno, V.
Capella, G.
Evans, G. R.
Valle, L.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 524 - 524
[23] Genetic Counseling Can Influence the Course of a Suspected Familial Cancer Syndrome Patient: From a Case of Li-Fraumeni Like Syndrome with a Germline Mutation in the TP53 Gene
Hwang, Sang Mee
Lee, Eun Sook
Shin, Sang Hoon
Kong, Sun-Young
KOREAN JOURNAL OF LABORATORY MEDICINE, 2008, 28 (06): : 493 - 497
[24] Phenotype analysis of families with TP53 germline variants at the Center for Familial Breast and Ovarian Cancer, Cologne
Kast, K.
Rhiem, K.
Larsen, M.
Wappenschmidt, B.
Schmutzler, R.
CANCER MEDICINE, 2024, 13 (03):
[25] Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome
Evans, DGR
Birch, JM
Thorneycroft, M
McGown, G
Lalloo, F
Varley, JM
JOURNAL OF MEDICAL GENETICS, 2002, 39 (12) : 941 - 944
[26] Low risk of invasive lobular carcinoma of the breast in carriers of BRCA1 (hereditary breast and ovarian cancer) and TP53 (Li-Fraumeni syndrome) germline mutations
Ditchi, Yoan
Broudin, Chloe
El Dakdouki, Yolla
Muller, Marie
Lavaud, Pernelle
Caron, Olivier
Lejri, Donia
Baynes, Caroline
Mathieu, Marie-Christine
Salleron, Julia
Benusiglio, Patrick R.
BREAST JOURNAL, 2019, 25 (01): : 16 - 19
[27] A matched case-control study of the prognosis of early breast cancer in patients with Li-Fraumeni syndrome (BREAST TP53)
Petry, Vanessa
Bonadio, Renata Colombo
Testa, Laura
Cohn, Daniela JBH.
Cagnacci, Allyne
Campos, Roberta G.
Fragoso, Maria Candida Bv
Estevez-Diz, Maria del Pilar
BREAST, 2023, 68 : 157 - 162
[28] TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes
Faustino da Silva, Paula Francinete
Goveia, Rebeca Mota
Teixeira, Thais Bomfim
Gamba, Bruno Faulin
de Lima, Aliny Pereira
Rogatto, Silvia Regina
Silveira-Lacerda, Elisangela de Paula
BIOMOLECULES, 2022, 12 (05)
[29] Nearly half of TP53 variants are misattributed to Li-Fraumeni syndrome: A clinical evaluation of individuals with TP53 variants detected by hereditary cancer panel assays on blood or saliva. 10501
Schwartz, Alison
Hyman, Sophie
Stokes, Samantha
Castillo, Danielle
Weitzel, Jeffrey N.
Rana, Huma Q.
Garber, Judy Ellen
JOURNAL OF CLINICAL ONCOLOGY, 2021, 39 (15)
[30] TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
Ruijs, Marielle W. G.
Verhoef, Senno
Rookus, Matti A.
Pruntel, Roelof
van der Hout, Annemarie H.
Hogervorst, Frans B. L.
Kluijt, I.
Sijmons, Rolf H.
Aalfs, Cora M.
Wagner, Anja
Ausems, Margreet G. E. M.
Hoogerbrugge, Nicoline
van Asperen, Christi J.
Garcia, Encarna B. Gomez
Meijers-Heijboer, Hanne
ten Kate, Leo P.
Menko, Fred H.
van't Veer, Laura J.
JOURNAL OF MEDICAL GENETICS, 2010, 47 (06) : 421 - 428

← 1 2 3 4 5 →