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Table 1 Risk management for an Unaffected Female BRCA1/2 Mutation Carrier

From: Genetic testing in a gynaecological oncology care in developing countries—knowledge, attitudes and perception of Nepalese clinicians

Cancer type

Recommendation

Breast

Surgical

▪ offer bilateral risk-reducing mastectomy followed by self-surveillance of breast area. The greatest benefit is predicted when surgery occurs at age ≤40 years

▪ alternatively in the absence of bilateral risk-reducing mastectomy, recommend RRSO preferably around age 40 years

Surveillance

▪ in families with breast cancer diagnosed under age 35 years, individualised screening recommendations may apply

▪ otherwise screening should start at age 30 years

▪ 30–50 years – annual MRI + MMG (+/− US)

▪ >50 years – annual MMG +/− US

▪ pregnant - no MRI or MMG, consider US

Risk-reducing medication

▪ careful assessment of risks and benefits in the individual case by an experienced medical professional is required when considering the use of medication, such as tamoxifen or raloxifene to reduce risk of developing breast cancer in unaffected women. See Cancer Australia Risk-reducing medication resource

Ovarian/fallopian tube

Surgical

▪ recommend RRBSO after family completion or around age 40 years3 with peritoneal lavage and close histological examination to exclude occult malignancy

Surveillance

▪ do not offer serum CA125 and/or transvaginal ultrasound (TVU)

Pancreatic

 

▪ no evidence of benefit from surveillance

  1. https://www.eviq.org.au Risk Management for an unaffected Female BRCA1 Mutation Carrier
  2. https://www.eviq.org.au Risk Management for an unaffected Female BRCA2 Mutation Carrier
  3. Abbreviations: RRSO: Risk-reducing salpingo-oophorectomy, RRBSO: Risk-reducing bilateral salpingo-oophorectomy, US: ultrasound, MMG: mammogram (digital if available), MRI: magnetic resonance imaging