A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: a case report (vol 13, 1102184, 2023)

被引：0
|
作者：
Colombo, Mara [1 ]
Mondini, Patrizia [1 ]
Minenza, Elisa [2 ]
Foglia, Claudia [1 ]
Mosconi, Annamaria [2 ]
Molica, Carmen [2 ]
Pistola, Lorenza [2 ]
Ludovini, Vienna [2 ]
Radice, Paolo [1 ]
机构：
[1] Fdn IRCCS Ist Nazl Tumori, Dept Expt Oncol, Unit Mol Bases Genet Risk & Genet Testing, Milan, Italy
[2] Santa Maria Misericordia Hosp, Dept Med Oncol, Perugia, Italy
来源：
FRONTIERS IN ONCOLOGY | 2023年 / 13卷
关键词：
BRCA1; ATM; double heterozygote; spliceogenic variant; case report;
D O I：
10.3389/fonc.2023.1306238
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
引用
收藏
页数：1
相关论文
共 18 条
  • [1] A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report
    Colombo, Mara
    Mondini, Patrizia
    Minenza, Elisa
    Foglia, Claudia
    Mosconi, Annamaria
    Molica, Carmen
    Pistola, Lorenza
    Ludovini, Vienna
    Radice, Paolo
    FRONTIERS IN ONCOLOGY, 2023, 13
  • [2] BRCA1 Intragenic Duplication Combined with a Likely Pathogenic TP53 Variant in a Patient with Triple-Negative Breast Cancer: Clinical Risk and Management
    Ea, Vuthy
    Berthozat, Claudine
    Dreyfus, Helene
    Legrand, Clementine
    Rousselet, Estelle
    Peysselon, Magalie
    Baudet, Laura
    Martinez, Guillaume
    Coutton, Charles
    Bidart, Marie
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (11)
  • [3] A Case of Triple-Negative Breast Cancer with Germline Pathogenic Variants in Both BRCA1 and BRCA2
    Kitahara, Miyuki
    Hozumi, Yasuo
    Machinaga, Mitsuki
    Hayashi, Yuka
    CASE REPORTS IN ONCOLOGY, 2021, 14 (03): : 1645 - 1651
  • [4] Case report: Deciphering the clinical significance of a novel partial BRCA1 exon 10 duplication in a patient with triple-negative breast cancer
    Faversani, Alice
    Manuelli, Debora
    Barteselli, Davide
    Melloni, Giulia
    Santaniello, Carlo
    Corsaro, Luigi
    Sacco, Davide
    Clerici, Davide
    Gargiulo, Laura
    Ferrara, Fulvio
    Costantino, Lucy
    FRONTIERS IN ONCOLOGY, 2025, 15
  • [5] CTNNA1 PATHOGENIC VARIANT DETECTED IN A PATIENT WITH LOBULAR BREAST CANCER: CASE REPORT
    Freitas, Michael
    de Almeida, Maria Lopes
    Castro, Lisandra
    Salgueiro, Natalia
    Conceicao, Ariana
    Correia, Ana
    Dantas, Marcelo
    Mata, Joao
    Gavina, Adriana
    Ferreira, Cristiana
    Lima, Margarida R.
    MEDICINE, 2025, 104 (04)
  • [6] Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report
    Chen, Dongmei
    Zhang, Chenyang
    Yuan, Mengqi
    Zhang, Ying
    Liu, Qing
    Wan, Donggui
    FRONTIERS IN ONCOLOGY, 2022, 12
  • [7] A functional BRCA1 coding sequence genetic variant contributes to prognosis of triple-negative breast cancer, especially after radiotherapy
    Meng Shi
    Fei Ma
    Jibing Liu
    Huaixin Xing
    Hui Zhu
    Jinming Yu
    Ming Yang
    Breast Cancer Research and Treatment, 2017, 166 : 109 - 116
  • [8] A functional BRCA1 coding sequence genetic variant contributes to prognosis of triple-negative breast cancer, especially after radiotherapy
    Shi, Meng
    Ma, Fei
    Liu, Jibing
    Xing, Huaixin
    Zhu, Hui
    Yu, Jinming
    Yang, Ming
    BREAST CANCER RESEARCH AND TREATMENT, 2017, 166 (01) : 109 - 116
  • [9] Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene
    Campopiano, Maria Cristina
    Fogli, Antonella
    Michelucci, Angela
    Mazoni, Laura
    Longo, Antonella
    Borsari, Simona
    Pardi, Elena
    Benelli, Elena
    Sardella, Chiara
    Pierotti, Laura
    Dinoi, Elisa
    Marcocci, Claudio
    Cetani, Filomena
    FRONTIERS IN ENDOCRINOLOGY, 2022, 13
  • [10] Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer
    Diez, Orland
    Pelegri, Amadeu
    Gadea, Neus
    Gutierrez-Enriquez, Sara
    Masas, Miriam
    Tenes, Anna
    Bosch, Nina
    Balmana, Judith
    Grana, Begona
    ONCOLOGY LETTERS, 2011, 2 (06) : 1287 - 1289
12