Frequency of somatic and germline variants of predisposition genes in young Chinese women with breast cancer

Sung H, Ferlay J, Siegel RL et al (2021) Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin 71:209–249

Article  PubMed  Google Scholar 

Lei S, Zheng R, Zhang S et al (2021) Global patterns of breast cancer incidence and mortality: a population-based cancer registry data analysis from 2000 to 2020. Cancer Commun (Lond) 41:1183–1194

Article  PubMed  Google Scholar 

Couch FJ, Shimelis H, Hu C et al (2017) Associations between cancer predisposition testing panel genes and breast cancer. JAMA Oncol 3:1190–1196

Article  PubMed  PubMed Central  Google Scholar 

Han MR, Zheng W, Cai Q et al (2017) Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians. Carcinogenesis 38:511–518

Article  PubMed  PubMed Central  Google Scholar 

Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C (2012) Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 18:400–407

Article  PubMed  PubMed Central  Google Scholar 

Hollestelle A, Wasielewski M, Martens JW, Schutte M (2010) Discovering moderate-risk breast cancer susceptibility genes. Curr Opin Genet Dev 20:268–276

Article  PubMed  Google Scholar 

Ni M, Wang F, Yang A et al (2023) What is the appropriate genetic testing criteria for breast cancer in the Chinese population?-Analysis of genetic and clinical features from a single cancer center database. Cancer Med 12:13019–13030

Article  PubMed  PubMed Central  Google Scholar 

Sun J, Meng H, Yao L et al (2017) Germline mutations in cancer susceptibility genes in a large series of unselected breast cancer patients. Clin Cancer Res 23:6113–6119

Article  PubMed  Google Scholar 

Yang L, Xie F, Liu C et al (2022) Germline variants in 32 cancer-related genes among 700 Chinese breast cancer patients by next-generation sequencing: a clinic-based. Observational Study Int J Mol Sci 23:1126

Google Scholar 

Anders CK, Hsu DS, Broadwater G et al (2008) Young age at diagnosis correlates with worse prognosis and defines a subset of breast cancers with shared patterns of gene expression. J Clin Oncol 26:3324–3330

Article  PubMed  Google Scholar 

Kim JK, Kwak BS, Lee JS et al (2007) Do very young Korean breast cancer patients have worse outcomes? Ann Surg Oncol 14:3385–3391

Article  PubMed  Google Scholar 

Partridge AH, Hughes ME, Warner ET et al (2016) Subtype-dependent relationship between young age at diagnosis and breast cancer survival. J Clin Oncol 34:3308–3314

Article  PubMed  Google Scholar 

Liu Z, Sahli Z, Wang Y, Wolff AC, Cope LM, Umbricht CB (2018) Young age at diagnosis is associated with worse prognosis in the Luminal a breast cancer subtype: a retrospective institutional cohort study. Breast Cancer Res Treat 172:689–702

Article  PubMed  PubMed Central  Google Scholar 

Canino F, Tornincasa A, Bettelli S et al (2024) Real-world data and clinical implications of next-generation sequencing (NGS)-based analysis in metastatic breast cancer patients. Int J Mol Sci 25:2490

Article  PubMed  PubMed Central  Google Scholar 

Daly MB, Pal T, Maxwell KN et al (2023) NCCN guidelines(R) insights: genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 2.2024. J Natl Compr Canc Netw 21:246

Article  Google Scholar 

Collins LC, Marotti JD, Gelber S et al (2012) Pathologic features and molecular phenotype by patient age in a large cohort of young women with breast cancer. Breast Cancer Res Treat 131:1061–1066

Article  PubMed  Google Scholar 

Jiang X, Hu X, Gu Y et al (2021) Homologous recombination repair gene mutations in Chinese localized and locally advanced prostate cancer patients. Pathol Res Pract 224:153507

Article  PubMed  Google Scholar 

Li MM, Datto M, Duncavage EJ et al (2017) Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the association for molecular pathology, american society of clinical oncology, and college of american pathologists. J Mol Diagn 19:4–23

Article  PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 17:405–424

Article  PubMed  PubMed Central  Google Scholar 

Azim HA, Nguyen B, Brohée S, Zoppoli G, Sotiriou C (2015) Genomic aberrations in young and elderly breast cancer patients. BMC Med 13:1

Article  Google Scholar 

Swain SM, Nunes R, Yoshizawa C, Rothney M, Sing AP (2015) Quantitative gene expression by recurrence score in ER-positive breast cancer, by age. Adv Ther 32:1222–1236

Article  PubMed  PubMed Central  Google Scholar 

Isiklar AD, Aliyeva L, Yesilyurt A, Soyder A, Basaran G (2023) Frequency of germline pathogenic variants in breast cancer predisposition genes among young Turkish breast cancer patients. Breast Cancer Res Treat 202:297–304

Article  PubMed  Google Scholar 

Su Y, Yao Q, Xu Y et al (2021) Characteristics of germline non-BRCA mutation status of high-risk breast cancer patients in China and correlation with high-risk factors and multigene testing suggestions. Front Genet 12:674094

Article  PubMed  PubMed Central  Google Scholar 

ElBiad O, Laraqui A, El Boukhrissi F et al (2022) Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa. BMC Cancer 22:208

Article  PubMed  PubMed Central  Google Scholar 

Herzog JS, Chavarri-Guerra Y, Castillo D et al (2021) Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America. NPJ Breast Cancer 7:107

Article  PubMed  PubMed Central  Google Scholar 

de Sanjose S, Leone M, Berez V et al (2003) Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study. Int J Cancer 106:588–593

Article  PubMed  Google Scholar 

Bakkach J, Mansouri M, Derkaoui T et al (2020) Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco. BMC Cancer 20:859

Article  PubMed  PubMed Central  Google Scholar 

van der Merwe NC, Ntaita KS, Stofberg H, Combrink HM, Oosthuizen J, Kotze MJ (2022) Implementation of multigene panel testing for breast and ovarian cancer in South Africa: a step towards excellence in oncology for the public sector. Front Oncol 12:938561

Article  PubMed  PubMed Central  Google Scholar 

Awadelkarim KD, Aceto G, Veschi S et al (2007) BRCA1 and BRCA2 status in a Central Sudanese series of breast cancer patients: interactions with genetic, ethnic and reproductive factors. Breast Cancer Res Treat 102:189–199

Article  PubMed  Google Scholar 

Waks AG, Kim D, Jain E et al (2022) Somatic and germline genomic alterations in very young women with breast cancer. Clin Cancer Res 28:2339–2348

Article  PubMed  PubMed Central  Google Scholar 

Hall MJ, Reid JE, Burbidge LA et al (2009) BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer 115:2222–2233

Article  PubMed  Google Scholar 

Hu C, Hart SN, Gnanaolivu R et al (2021) A population-based study of genes previously implicated in breast cancer. N Engl J Med 384:440–451

Article  PubMed  PubMed Central  Google Scholar 

Dorling L, Carvalho S, Allen J et al (2021) Breast cancer risk genes—association analysis in more than 113,000 women. N Engl J Med 384:428–439

Article  PubMed  Google Scholar 

Bernstein JL, Haile RW, Stovall M et al (2010) Radiation exposure, the ATM Gene, and contralateral breast cancer in the women’s environmental cancer and radiation epidemiology study. J Natl Cancer Inst 102:475–483

Article 

留言 (0)

沒有登入
gif