|
| Women | |
| (i) Breast awareness (periodic and consistent breast self-exam) starting at age 18. | |
| (ii) Clinical breast exam, every 6 to 12 months, starting at age 25. | |
| (iii) Breast screening | |
| (a) Age 25–29, annual MRI screening (preferred) or mammogram if MRI is unavailable based on earliest age of onset in family. | |
| (b) Age >30 to 75, annual mammogram and breast MRI screening. | |
| (c) Age >75, management should be considered on an individual basis. | |
| (iv) Discuss the option of risk reducing mastectomy | |
| (a) Counseling may include a discussion regarding degree of protection, reconstruction options, and risk. | |
| (v) Recommend risk-reducing salpingo-oophorectomy, ideally between 35 and 40 years of age and upon completion of child bearing or individualized based on earliest age of onset of ovarian carcinoma in the family. | |
| (a) Counseling includes a discussion of reproductive desires, extent of cancer risk, degree of protection for breast and ovarian cancer, management of menopausal symptoms, possible short term hormone replacement therapy (HRT) to recommend maximum age of natural menopause, and related medical issues. | |
| (vi) Address psychological, social, and quality-of-life aspects of undergoing risk-reducing mastectomy and/or salpingo-oophorectomy. | |
| (vii) For those patients who have not elected risk-reducing salpingo-oophorectomy, consider transvaginal ultrasound (preferably day 1 to day 10 of menstrual cycle in premenopausal women) and CA-125 (preferably after day 5 of menstrual cycle in premenopausal women), every 6 months starting at age 30 or 5 to 10 years before earliest age of first diagnosis of ovarian cancer in the family. | |
| (viii) Consider chemoprevention options for breast and ovarian cancer, including risks and benefits. | |
| (ix) Consider investigational imaging and screening studies, when available (e.g., novel imaging technologies and more frequent screening intervals) in the context of a clinical trial. | |
|
| Men | |
| (i) Breast self-exam training and education starting at age 35. | |
| (ii) Clinical breast exam every 6 to 12 months, starting at age 25. | |
| (iii) Consider baseline mammogram at age 40; annual mammogram if gynaecomastia or parenchyma/glandular breast density on baseline study. | |
| (iv) Starting at age 40: | |
| (a) Recommend prostate cancer screening for BRCA2 carriers. | |
| (b) Consider prostate cancer screening for BRCA1 carriers. | |
|
| Men and women | |
| (i) Education regarding signs and symptoms of cancer(s), especially those associated with BRCA gene mutations. | |
|
| Risk to relatives | |
| (i) Advise about possible inherited cancer risk to relatives, options for risk assessment, and management. | |
| (ii) Recommend genetic counseling and consideration of genetic testing for at-risk relatives. | |
|
| Reproductive options | |
| (i) For couples expressing the desire that their offspring not carry a familial BRCA mutation, advise about options for prenatal diagnosis and assisted reproduction, including preimplantation genetic diagnosis. Discussion should include known risks, limitations, and benefits of these technologies. | |
| (ii) For BRCA2 mutation carriers, there is a risk of a rare (recessive) Fanconi anaemia/brain tumor phenotypes in offspring if both partners carry a BRCA2 mutation should be discussed. | |
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