Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25:1329–1333. https://doi.org/10.1200/JCO.2006.09.1066
Kuchenbaecker KB, Hopper JL, Barnes DR et al (2017) Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 317:2402–2416. https://doi.org/10.1001/jama.2017.7112
Article CAS PubMed Google Scholar
Tutt ANJ, Garber JE, Kaufman B et al (2021) Adjuvant olaparib for patients with BRCA1- or BRCA2-mutated breast cancer. N Engl J Med 384:2394–2405. https://doi.org/10.1056/NEJMoa2105215
Article CAS PubMed PubMed Central Google Scholar
Genetic/familial high-risk assessment: breast and ovarian. NCCN Guidelines Version 3 (2019) https://www2.tri-kobe.org/nccn/guideline/gynecological/english/genetic_familial.pdf. Accessed 1 May 2024
JOHBOC (2021) https://johboc.jp/guidebook_2021/doc2-2/b1/. Accessed 1 May 2024
Berliner JL, Cummings SA, Boldt Burnett B, Ricker CN (2013) NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. J Genet Couns 22:155–163. https://doi.org/10.1002/jgc4.1374
Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC (2002) Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 20:1480–1490. https://doi.org/10.1200/JCO.2002.20.6.1480
Article CAS PubMed Google Scholar
Tyrer J, Duffy SW, Cuzick J (2004) A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 23:1111–1130
Antoniou AC, Pharoah PPD, Smith P, Easton DF (2004) The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer 91:1580–1590. https://doi.org/10.1038/sj.bjc.6602175
Article CAS PubMed PubMed Central Google Scholar
Kang E, Park SK, Lee JW, Kim Z, Noh WC, Jung Y, Yang JH, Jung SH, Kim SW (2016) KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients. J Hum Genet 61:365–371. https://doi.org/10.1038/jhg.2015.164
Article CAS PubMed Google Scholar
Ang BH et al (2022) Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation in Asian patients with breast cancer. J Clin Oncol 40(14):1542–1551. https://doi.org/10.1200/JCO.21.01647
Article CAS PubMed Google Scholar
Yadav S et al (2020) Evaluation of germline genetic testing criteria in a hospital-based series of women with breast cancer. J Clin Oncol 38(13):1409–1418. https://doi.org/10.1200/JCO.19.02190
Article CAS PubMed PubMed Central Google Scholar
Kurian AW, Gong GD, Chun NM, Mills MA, Staton AD, Kingham KE, Crawford BB, Lee R, Chan S, Donlon SS, Ridge Y, Panabaker K, West DW, Whittemore AS, Ford JM (2008) Performance of BRCA1/2 mutation prediction models in Asian Americans. J Clin Oncol 26:4752–4758. https://doi.org/10.1200/JCO.2008.16.8310
Article CAS PubMed PubMed Central Google Scholar
Kang E, Park SK, Yang JJ, Park B, Lee MH, Lee JW, Suh YJ, Lee JE, Kim HA, Oh SJ, Kim SW (2012) Accuracy of BRCA1/2 mutation prediction models in Korean breast cancer patients. Breast Cancer Res Treat 134:1189–1197. https://doi.org/10.1007/s10549-012-2022-8
Article CAS PubMed Google Scholar
Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250:1684–1689. https://doi.org/10.1126/science.2270482
Article CAS PubMed Google Scholar
Miki Y, Swensen J, Shattuck-Eidens D et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66–71. https://doi.org/10.1126/science.7545954
Article CAS PubMed Google Scholar
Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789–792. https://doi.org/10.1038/378789a0
Article CAS PubMed Google Scholar
Nakamura S, Takahashi M, Tozaki M, Nakayama T, Nomizu T, Miki Y, Murakami Y, Aoki D, Iwase T, Nishimura S, Yamauchi H, Ohsumi S, Baba S, Shimizu T (2015) Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. Breast Cancer 22:462–468. https://doi.org/10.1007/s12282-013-0503-1
Mavaddat N, Barrowdale D, Andrulis IL et al (2012) Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the consortium of investigators of modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev 21:134–147. https://doi.org/10.1158/1055-9965.EPI-11-0775
Article CAS PubMed Google Scholar
Lakhani SR, Van De Vijver MJ, Jacquemier J, Anderson TJ, Osin PP, McGuffog L, Easton DF (2002) The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 20:2310–2318. https://doi.org/10.1200/JCO.2002.09.023
Article CAS PubMed Google Scholar
Chen J, Bae E, Zhang L, Hughes K, Parmigiani G, Braun D, Rebbeck TR (2020) Penetrance of breast and ovarian cancer in women who carry a BRCA1/2 mutation and do not use risk-reducing salpingo-oophorectomy: an updated meta-analysis. JNCI Cancer Spectr. https://doi.org/10.1093/jncics/pkaa029
Article PubMed PubMed Central Google Scholar
Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M (2018) Germline pathogenic variants of 11 breast cancer genes in 7051 Japanese patients and 11,241 controls. Nat Commun 9:4083. https://doi.org/10.1038/s41467-018-06581-8
留言 (0)