BRCA and Breast Cancer-Related High-Penetrance Genes

被引：10
|
作者：
Han, Sang-Ah [1 ]
Kim, Sung-Won [2 ]
机构：
[1] Kyung Hee Univ, Sch Med, Seoul, South Korea
[2] Daerim St Marys Hosp, Seoul, South Korea
来源：
TRANSLATIONAL RESEARCH IN BREAST CANCER | 2021年 / 1187卷
关键词：
Breast cancer; Genetic susceptibility; BRCA1/2; TP53; PTEN; STK11; KOHBRA study; BILATERAL PROPHYLACTIC MASTECTOMY; MUTATION CARRIERS; SUSCEPTIBILITY; RISKS; OOPHORECTOMY; PREVALENCE; CARCINOMA; GENOTYPE; FAMILIES; SURVIVAL;
D O I：
10.1007/978-981-32-9620-6_25
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
Genetic susceptibility explains 5-10% of all breast cancer cases. High-penetrance breast cancer susceptibility genes deliberate a greater than tenfold relative risk of breast cancer. BRCA1 and BRCA2 genes are the most common cause of hereditary breast cancer, and TP53, PTEN, and SKT11 (LKB1) are rarely present. The prevalence of BRCA1 and BRCA2 genetic alterations differ in various ethnic groups. The Korean Hereditary Breast Cancer (KOHBRA) Study, nationwide-scale study, was established to acquire evidence for the accurate risk assessment and management of hereditary breast and ovarian cancer (HBOC) in Korea prospectively since 2007. In this chapter, we review previous research related to hereditary breast cancer and summarize the present concepts and research results centered on the Korean Hereditary Breast Cancer Research at this time.
引用
收藏
页码：473 / 490
页数：18
相关论文
共 50 条
  • [11] Can abnormal chromatin folding cause high-penetrance cancer predisposition?
    Schwartz, Mathias
    PHYSIOLOGICAL GENOMICS, 2022, 54 (10) : 380 - 388
  • [12] Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families
    Ford, D
    Easton, DF
    Stratton, M
    Narod, S
    Goldgar, D
    Devilee, P
    Bishop, DT
    Weber, B
    Lenoir, G
    Chang-Claude, J
    Sobol, H
    Teare, MD
    Struewing, J
    Arason, A
    Scherneck, S
    Peto, J
    Rebbeck, TR
    Tonin, P
    Neuhausen, S
    Barkardottir, R
    Eyfjord, J
    Lynch, H
    Ponder, BAJ
    Gayther, SA
    Birch, JM
    Lindblom, A
    Stoppa-Lyonnet, D
    Bignon, Y
    Borg, A
    Hamann, U
    Haites, N
    Scott, RJ
    Maugard, CM
    Vasen, H
    AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) : 676 - 689
  • [13] Breastfeeding and Breast Cancer Screening Among Carriers of Pathogenic Variants in BRCA 1 and BRCA 2 and Other High Penetrance Genes: Knowledge and Perspectives
    Pacheco-Spann, Laura
    Sherman, Mark
    Friedman, Susan
    Rose, Diane
    Levi, Miriam
    Hochwald, Alex
    Ridgeway, Jennifer
    Blumenfeld, Sophia
    CANCER RESEARCH, 2024, 84 (09)
  • [14] Breast cancer-related preferences among women with and without BRCA mutations
    Victor R. Grann
    Priya Patel
    Anubha Bharthuar
    Judith S. Jacobson
    Ellen Warner
    Kristin Anderson
    Eiran Warner
    Wei-Yann Tsai
    Kimberly A. Hill
    Alfred I. Neugut
    Dawn Hershman
    Breast Cancer Research and Treatment, 2010, 119 : 177 - 184
  • [15] Breast cancer-related preferences among women with and without BRCA mutations
    Grann, Victor R.
    Patel, Priya
    Bharthuar, Anubha
    Jacobson, Judith S.
    Warner, Ellen
    Anderson, Kristin
    Warner, Eiran
    Tsai, Wei-Yann
    Hill, Kimberly A.
    Neugut, Alfred I.
    Hershman, Dawn
    BREAST CANCER RESEARCH AND TREATMENT, 2010, 119 (01) : 177 - 184
  • [16] Cancer-related genes
    Borggaard, BW
    Jorgensen, LGM
    JOURNAL OF TUMOR MARKER ONCOLOGY, 2001, 16 (01): : 79 - 84
  • [17] Demographics and Clinical Decision Making in Patients with Germline Moderate Penetrance Non-BRCA Mutations in Breast Cancer Related Genes
    Ntowe, Koumani W.
    Thomas, Samantha M.
    Dalton, Juliet C.
    Olunuga, Ebunoluwa
    Wang, Ton
    Chiba, Akiko
    Plichta, Jennifer K.
    ANNALS OF SURGICAL ONCOLOGY, 2024, 31 (11) : 7290 - 7300
  • [18] Aberrant promoter methylation of cancer-related genes in human breast cancer
    Wu, Liang
    Shen, Ye
    Peng, Xianzhen
    Zhang, Simin
    Wang, Ming
    Xu, Guisheng
    Zheng, Xianzhi
    Wang, Jianming
    Lu, Cheng
    ONCOLOGY LETTERS, 2016, 12 (06) : 5145 - 5155
  • [19] Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age
    van der Kolk, Dorina M.
    de Bock, Geertruida H.
    Leegte, Beike K.
    Schaapveld, Michael
    Mourits, Marian J. E.
    de Vries, Jakob
    van der Hout, Annemieke H.
    Oosterwijk, Jan C.
    BREAST CANCER RESEARCH AND TREATMENT, 2010, 124 (03) : 643 - 651
  • [20] Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age
    Dorina M. van der Kolk
    Geertruida H. de Bock
    Beike K. Leegte
    Michael Schaapveld
    Marian J. E. Mourits
    Jakob de Vries
    Annemieke H. van der Hout
    Jan C. Oosterwijk
    Breast Cancer Research and Treatment, 2010, 124 : 643 - 651
12345