Young women with breast cancer and high risk family history but no high penetrance germline mutations have a higher load of rare high functional impact germline variants in cancer relevant genes

被引:0
|
作者
Rozenblit, Mariya
Qing, Tao
Ye, Yixuan
Zhao, Hongyu
Hofstatter, Erin
Singh, Vinit
Reisenbichler, Emily
Murray, Michael
Pusztai, Lajos
机构
关键词
D O I
10.1158/1538-7445.SABCS21-P3-07-01
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
P3-07-01
引用
收藏
页数:3
相关论文
共 50 条
  • [1] Rare germline variants in cancer-relevant genes are associated with breast cancer risk in young women with high-risk family history
    Rozenblit, Mariya
    Qing, Tao
    Ye, Yixuan
    Zhao, Hongyu
    Hofstatter, Erin
    Singh, Vinit
    Reisenbichler, Emily
    Murray, Michael
    Pusztai, Lajos
    BREAST CANCER RESEARCH AND TREATMENT, 2025, 209 (01) : 21 - 26
  • [2] A portrait of germline pathogenic variants in high and moderate penetrance breast cancer genes in Brazil
    Oliveira, Leandro Jonata de Carvalho
    Rodrigues, Amanda Muniz
    Fernandes, Carolina de Bustamante
    do Rego, Fernanda Orpinelli Ramos
    Koyama, Fernanda Christtanini
    Souto, Andreza Karine de Barros Almeida
    Santana, Thaiana Aragao
    de Faria, Joao Paulo Gonzaga
    Bulcao, Marcela Lima
    Nascimento, Ivana Lucia de Oliveira
    Silva, Ana Carolina Branco Neves
    Goncalves, Isabela Pessoa Elias
    Maia, Rayana Elias
    de Azevedo, Renata Gondim Meira Velame
    Galindo, Layla Testa
    Pachito, Daniela Vianna
    Cury, Adriana
    Zalis, Mariano Gustavo
    Ferrari, Bruno Lemos
    Garicochea, Bernardo
    Dienstmann, Rodrigo
    FRONTIERS IN ONCOLOGY, 2024, 14
  • [3] Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India
    Sharma-Oates, Archana
    Shaaban, Abeer M.
    Tomlinson, Ian
    Wynne, Luke
    Cazier, Jean-Baptiste
    Sundar, Sudha
    PRECISION CLINICAL MEDICINE, 2018, 1 (02) : 75 - 87
  • [4] High and moderate penetrance germline mutations in a number of genes are responsible for a small proportion of familial breast cancer risk in BRCAx families
    Maxwell, Kara N.
    Guidugli, Lucia
    Schrader, Kasmintan
    Hart, Steven
    Joseph, Vijai
    Thomas, Tinu
    Wang, Xianshu
    Wubbenhorst, Bradley
    Klein, Robert
    Domchek, Susan M.
    Szabo, Csilla
    Neuhausen, Susan
    Weitzel, Jeffrey
    Nathanson, Katherine L.
    Offit, Kenneth
    Couch, Fergus
    CANCER RESEARCH, 2014, 74 (19)
  • [5] Germline RECQL mutations in high risk Chinese breast cancer patients
    Ava Kwong
    Vivian Y. Shin
    Isabella W. Y. Cheuk
    Jiawei Chen
    Chun H. Au
    Dona N. Ho
    Tsun L. Chan
    Edmond S. K. Ma
    Mohammad R. Akbari
    Steven A. Narod
    Breast Cancer Research and Treatment, 2016, 157 : 211 - 215
  • [6] Germline RECQL mutations in high risk Chinese breast cancer patients
    Kwong, Ava
    Shin, Vivian Y.
    Cheuk, Isabella W. Y.
    Chen, Jiawei
    Au, Chun H.
    Ho, Dona N.
    Chan, Tsun L.
    Ma, Edmond S. K.
    Akbari, Mohammad R.
    Narod, Steven A.
    BREAST CANCER RESEARCH AND TREATMENT, 2016, 157 (02) : 211 - 215
  • [7] GERMLINE MUTATIONS IN HIGH RISK PROSTATE CANCER PATIENTS
    Wackerbarth, Joel
    Richgels, John
    Vizzini, Olivia
    Nielsen, Sara
    Szmulewitz, Russell
    Eggener, Scott
    JOURNAL OF UROLOGY, 2020, 203 : E116 - E116
  • [8] Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer
    Laitman, Yael
    Kaufman, Bella
    Lahad, Ephrat Levy
    Papa, Moshe Z.
    Friedman, Eitan
    ISRAEL MEDICAL ASSOCIATION JOURNAL, 2007, 9 (11): : 791 - 796
  • [9] Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history
    Hassanin, Emadeldin
    May, Patrick
    Aldisi, Rana
    Spier, Isabel
    Forstner, Andreas J.
    Nothen, Markus M.
    Aretz, Stefan
    Krawitz, Peter
    Bobbili, Dheeraj Reddy
    Maj, Carlo
    GENETICS IN MEDICINE, 2022, 24 (03) : 576 - 585
  • [10] Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer
    Li, Jun-Yan
    Jing, Ruilin
    Wei, Hongyi
    Wang, Minghao
    Qi Xiaowei
    Liu, Haoxi
    Liu Jian
    Ou, Jiang-Hua
    Jiang, Wei-Hua
    Tian, Fu-Guo
    Yuan Sheng
    Li, Heng-Yu
    Hong Xu
    Zhang, Rui-Shan
    Guan, Ai-Hua
    Ke Liu
    Jiang, Hong-Chuan
    Yu Ren
    He, Jian-Jun
    Huang, Weiwei
    Ning Liao
    Cai, Xiangjun
    Jia Ming
    Rui Ling
    Yan Xu
    Hu, Chun-Yan
    Zhang, Jianguo
    Guo, Baoliang
    Ouyang, Lizhi
    Ping Shuai
    Liu, Zhenzhen
    Ling Zhong
    Zhen Zeng
    Ting Zhang
    Xuan, Zhaoling
    Tan, Xuanni
    Liang, Junbin
    Pan, Qinwen
    Li Chen
    Fan Zhang
    Fan, Lin-Jun
    Yi Zhang
    Yang, Xinhua
    Jing BoLi
    Chen, Chongjian
    Jun Jiang
    INTERNATIONAL JOURNAL OF CANCER, 2019, 144 (02) : 281 - 289