
PMID- 20301425
STAT- Publisher
DRDT- 20260325
CTDT- 19980904
PB  - University of Washington, Seattle
DP  - 1993
TI  - BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer.
BTI - GeneReviews((R))
AB  - CLINICAL CHARACTERISTICS: BRCA1- and BRCA2-associated hereditary breast and 
      ovarian cancer (HBOC) is characterized by an increased risk for female and male 
      breast cancer, ovarian cancer (including fallopian tube and primary peritoneal 
      cancers), and to a lesser extent other cancers such as prostate cancer, 
      pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic 
      variant. The risk of developing an associated cancer varies depending on whether 
      HBOC is caused by a BRCA1 or BRCA2 pathogenic variant. DIAGNOSIS/TESTING: The 
      diagnosis of BRCA1- and BRCA2-associated HBOC is established in a proband by 
      identification of a heterozygous germline pathogenic variant in BRCA1 or BRCA2 on 
      molecular genetic testing. MANAGEMENT: Treatment of manifestations: Treatment of 
      breast cancer per oncologist with consideration of bilateral mastectomy as a 
      primary surgical treatment of breast cancer because of elevated rate of 
      ipsilateral and contralateral breast cancer; PARP inhibitors may be considered in 
      BRCA1- and BRCA2-related tumors. Melanoma treatment per dermatologist and 
      oncologist. Prevention of primary manifestations: Prophylactic bilateral 
      mastectomy, prophylactic oophorectomy, and chemoprevention (e.g., tamoxifen) have 
      been used for breast cancer prevention, but have not been assessed by randomized 
      trials in high-risk women. Prophylactic salpingectomy followed by delayed 
      oophorectomy or salpingo-oophorectomy for ovarian cancer prevention. 
      Surveillance: Breast cancer screening in women relies on a combination of monthly 
      breast self-examination, annual or semiannual clinical breast examination, annual 
      mammography, and breast MRI. Annual transvaginal ultrasound and serum CA-125 
      concentration beginning at age 35 years may be considered for ovarian cancer 
      screening. However, this screening has not been effective in detecting 
      early-stage ovarian cancer, either in high-risk or average-risk women. For men, 
      breast cancer screening includes breast self-examination education and training 
      and annual clinical breast examination beginning at age 35. Annual serum 
      prostate-specific antigen and digital rectal exam screening should begin at age 
      40 in men heterozygous for a BRCA2 pathogenic variant and should be considered in 
      men heterozygous for a BRCA1 pathogenic variant. Screening for melanoma should be 
      individualized based on the family history. Screening of asymptomatic individuals 
      for pancreatic cancer is not generally recommended. Evaluation of relatives at 
      risk: Once a cancer-predisposing BRCA1 or BRCA2 germline pathogenic variant has 
      been identified in a family, testing of at-risk relatives can identify those 
      family members who also have the familial pathogenic variant and thus need 
      increased surveillance and specific treatments when a cancer is identified. 
      GENETIC COUNSELING: BRCA1- and BRCA2-associated HBOC is inherited in an autosomal 
      dominant manner. The vast majority of individuals with a BRCA1 or BRCA2 
      pathogenic variant inherited it from a parent. However, because the penetrance of 
      breast, ovarian, and other cancers associated with pathogenic variants in BRCA1 
      and BRCA2 is less than 100%, not all individuals with a BRCA1 or BRCA2 pathogenic 
      variant have a parent affected with cancer. The offspring of an individual with a 
      BRCA1 or BRCA2 germline pathogenic variant have a 50% chance of inheriting the 
      pathogenic variant. Once a cancer-predisposing BRCA1 or BRCA2 germline variant 
      has been identified in a family, prenatal and preimplantation genetic testing are 
      possible.
CI  - Copyright (c) 1993-2026, University of Washington, Seattle. GeneReviews is a 
      registered trademark of the University of Washington, Seattle. All rights 
      reserved. Test.
FED - Adam, Margaret P
ED  - Adam MP
FED - Bick, Sarah
ED  - Bick S
FED - Mirzaa, Ghayda M
ED  - Mirzaa GM
FED - Pagon, Roberta A
ED  - Pagon RA
FED - Wallace, Stephanie E
ED  - Wallace SE
FED - Amemiya, Anne
ED  - Amemiya A
FAU - Petrucelli, Nancie
AU  - Petrucelli N
AD  - Wayne State University School of Medicine/Detroit Medical Center;Cancer Genetic 
      Counseling ServiceKarmanos Cancer InstituteDetroit, Michigan
FAU - Daly, Mary B
AU  - Daly MB
AD  - Chair, Department of Clinical GeneticsFox Chase Cancer CenterPhiladelphia, 
      Pennsylvania
FAU - Pal, Tuya
AU  - Pal T
AD  - Vanderbilt-Ingram Cancer CenterNashville, Tennessee
LA  - eng
PT  - Review
PT  - Book Chapter
PL  - Seattle (WA)
OTO - NLM
OT  - BRCA1- and BRCA2-Associated HBOC
OT  - BRCA1- and BRCA2-Associated HBOC
OT  - Breast cancer type 1 susceptibility protein
OT  - Breast cancer type 2 susceptibility protein
OT  - BRCA1
OT  - BRCA2
OT  - BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
EDAT- 2026/03/25 00:00
CRDT- 2026/03/25 00:00
AID - NBK1247 [bookaccession]
