検査項目解説
| 検査名 | BRCA-1 and 2遺伝子 |
| 英検査名 | BRCA-1 and 2 Gene |
| 検体基準範囲 |
EDTA-2K加試験管に血液約7ml採取し、採血後48時間以内に測定する。 血液：変異認められず |
| 測定法 | PCR |
| 基準範囲出典 |
1.Petrij-Bosch A, Peelen T, van Vliet M, et al: BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 1997 Nov;17(3):341-345 2.Richards CS, Bale S, Bellissimo DB, et al: ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med 2008;10(4):294-300 3.Lindor NM, McMaster ML, Lindor CJ, et al: Concise Handbook of Familial Cancer Susceptibility Syndromes. Second Edition. J Natl Cancer Inst Monogr 2008;(38):1-93 4.BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer-GeneReviews-NCBI Bookshelf. Accessed 6/1/2015. Available at http://www.ncbi.nlm.nih.gov/books/NBK1247/ 5.NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines): Genetic/Familial High-Risk Assessment: Breast and Ovarian Version 1.2015. Accessed 6/1/2015. Available at www.nccn.org 6.Chen S, Parmigiani G: Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 2007 Apr 10;25(11):1329-1333 7.Saslow D, Boetes C, Burke W, et al: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin 2007 Mar-Apr;57(2):75-89 8.BRCA and BRCA2: Cancer Risk and Genetic Testing. National Cancer Institute Web site. Last reviewed April 15, 2015. www.cancer.gov/cancertopics/factsheet/Risk/BRCA. Accessed October 7, 2015. 9.BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing. U.S. Preventive Services Task Force Web site. Current as of July 2015. www.uspreventiveservicestaskforce.org/uspstf/uspsbrgen.htm. Accessed October 7, 2015. 10.Gordon OK. Cancer of the breast and female reproductive tract. In: Rimoin D, Korf B, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. 6th ed. Philadelphia, PA: Elsevier; 2013:chap 89. 11.Baretta Z，et al：Medicine 95（40）：e4975，2016． 12.Robson M，et al：N Engl J Med 377（6）：523～533，2017． 13.菅野康吉：家族性乳癌の最新知見．園尾博司(編)；これからの乳癌診療2009～2010．金原出版，2009，pp102-109 |
| 解説 |
HBOCは家系内に乳癌、卵巣癌などが多発する常染色体優性遺伝性疾患であり、この検査は遺伝性乳癌・卵巣癌(HBOC)の原因遺伝子であるBRCA1/BRCA2遺伝子の病的変異の有無を調べる検査で、変異が陽性ならHBOCと診断される。また家系内での変異陽性者は乳癌の発症リスクが高いことを意味する。臨床的には変異陽性者に対する乳房切除術、卵巣・卵管切除術、予防的内分泌治療の判断に使われる。 変異陽性者（血液）：遺伝性乳癌、遺伝性卵巣癌 |