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
  • [21] From BRCA1 to Polygenic Risk Scores: Mutation-Associated Risks in Breast Cancer-Related Genes
    Woodward, Emma R.
    van Veen, Elke M.
    Evans, D. Gareth
    BREAST CARE, 2021, 16 (03) : 202 - 213
  • [22] Hereditary breast cancer; Genetic penetrance and current status with BRCA
    Mahdavi, Morteza
    Nassiri, Mohammadreza
    Kooshyar, Mohammad Mahdi
    Vakili-Azghandi, Masoume
    Avan, Amir
    Sandry, Ryan
    Pillai, Suja
    Lam, Alfred King-yin
    Gopalan, Vinod
    JOURNAL OF CELLULAR PHYSIOLOGY, 2019, 234 (05) : 5741 - 5750
  • [23] Cancer-related genes and ALS
    Yamamoto, Itaru
    Azuma, Yumiko
    Yamaguchi, Masamitsu
    FRONTIERS IN BIOSCIENCE-LANDMARK, 2019, 24 : 1241 - 1258
  • [24] Incidence of Occult Breast Cancer in Carriers of BRCA1/2 or Other High-Penetrance Pathogenic Variants Undergoing Prophylactic Mastectomy: When is Sentinel Lymph Node Biopsy Indicated?
    Stephanie M. Wong
    Amina Ferroum
    Carla Apostolova
    Basmah Alhassan
    Ipshita Prakash
    Mark Basik
    Jean Francois Boileau
    Sarkis Meterissian
    Olga Aleynikova
    Nora Wong
    William D. Foulkes
    Annals of Surgical Oncology, 2022, 29 : 6660 - 6668
  • [25] Incidence of Occult Breast Cancer in Carriers of BRCA1/2 or Other High-Penetrance Pathogenic Variants Undergoing Prophylactic Mastectomy: When is Sentinel Lymph Node Biopsy Indicated?
    Wong, Stephanie M.
    Ferroum, Amina
    Apostolova, Carla
    Alhassan, Basmah
    Prakash, Ipshita
    Basik, Mark
    Boileau, Jean Francois
    Meterissian, Sarkis
    Aleynikova, Olga
    Wong, Nora
    Foulkes, William D.
    ANNALS OF SURGICAL ONCOLOGY, 2022, 29 (11) : 6660 - 6668
  • [26] Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
    Johnston, Jennifer J.
    Rubinstein, Wendy S.
    Facio, Flavia M.
    Ng, David
    Singh, Larry N.
    Teer, Jamie K.
    Mullikin, James C.
    Biesecker, Leslie G.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 91 (01) : 97 - 108
  • [27] Interactions dietary components with expression level of breast cancer-related genes
    Bourbour, Fatemeh
    Pourtaheri, Azam
    Abbasi, Khadijeh
    Ardekanizadeh, Naeemeh Hasanpour
    Gholamalizadeh, Maryam
    Hajipour, Azadeh
    Abdollahi, Sepideh
    Bagheri, Seyedeh Elaheh
    Ahmadzadeh, Mina
    Doaei, Saeid
    Haghighian, Arezoo
    EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2022, 23 (01)
  • [28] Interactions dietary components with expression level of breast cancer-related genes
    Fatemeh Bourbour
    Azam Pourtaheri
    Khadijeh Abbasi
    Naeemeh Hasanpour Ardekanizadeh
    Maryam Gholamalizadeh
    Azadeh Hajipour
    Sepideh Abdollahi
    Seyedeh Elaheh Bagheri
    Mina Ahmadzadeh
    Saeid Doaei
    Arezoo Haghighian
    Egyptian Journal of Medical Human Genetics, 23
  • [29] Application of the Shortest Path Algorithm for the Discovery of Breast Cancer-Related Genes
    Chen, Lei
    Xing, ZhiHao
    Huang, Tao
    Shu, Yang
    Huang, GuoHua
    Li, Hai-Peng
    CURRENT BIOINFORMATICS, 2016, 11 (01) : 51 - 58
  • [30] Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort
    Billings, Liana K.
    Shi, Zhuqing
    Resurreccion, W. Kyle
    Wang, Chi-Hsiung
    Wei, Jun
    Pollin, Toni, I
    Udler, Miriam S.
    Xu, Jianfeng
    ENDOCRINOLOGY DIABETES & METABOLISM, 2022, 5 (06)
12345