1. SECTIONS:
2. preface & acknowledgements
3. genetics at a glance
4. contacts, support & testing
5. testing & pregnancy
6. newborn screening
7. cancer in the family
8. cardiovascular conditions
9. chromosomal conditions
10. clotting & bleeding conditions
11. cystic fibrosis
12. diabetes
13. fragile X syndrome and other causes of developmental delay
14. haemoglobinopathies
15. hereditary haemochromatosis
16. neurofibromatosis
17. neurological conditions
18. psychiatric conditions
19. genetics in practice
20. emerging genetic technologies
21. glossary

Breast cancer

 

Assessing breast cancer risk based
on family history

 

1. The following information has been taken from the National Breast Cancer Centre (2006), Advice about the familial aspects of breast cancer and epithelial ovarian cancer: a guide for health professionals.
   http://www.nbcc.org.au/bestpractice/resources/BOG182_adviceaboutfamiliala.pdf
2. Asymptomatic patients can be classified into one of three categories of relative risk based on their family history of breast cancer.

 

Category 1 (average or slightly above average risk)

1. Covers more than 95% of the female population.
2. No confirmed family history of breast cancer.
3. One 1° relative diagnosed with breast cancer at any age
4. Two 2° relatives on the same side of the family diagnosed with breast cancer at the age of 50 years or older.
5. Two 1° or 2° relatives diagnosed with breast cancer, at age 50 years or older, but on different sides of the family (ie one on each side of the family).

 

Management

1. It is recommended that women 50 to 69 years attend the BreastScreen Australia program for free screening mammograms every two years. Women aged 40 to 49 years are also eligible for this program, but mammographic screening is not recommended for women younger than 40 years.
2. A firm recommendation regarding clinical breast examination (CBE) is not possible as there is no evidence to either encourage or discourage the use of CBE as a screening method in women of any age.

 

Category 2 (moderately increased risk)

1. Covers less than 4% of the female population.
2. One 1° relative diagnosed with breast cancer before the age of 50 years (without the additional high risk features in ‘Category 3’ below).
3. Two 1° relatives, on the same side of the family, diagnosed with breast cancer (without the additional high risk features in ‘Category 3’ below).
4. Two 2° relatives, on the same side of the family, diagnosed with breast cancer, with at least one before the age of 50 years (without any of the additional high risk features in ‘Category 3’ below).

 

Management

1. A more precise risk assessment and management plan may be available from a specialist cancer service or familial cancer service (see list of familial cancer services).
2. While evidence about optimal management strategies for this group does not exist, the following recommendations are based on expert consensus opinion: advise the woman to, at the very least, attend for screening mammograms as recommended for Category 1 additional surveillance, such as mammography from a younger age, or more frequently; this should be considered on an individual basis.
3. A firm recommendation regarding clinical breast examination (CBE) is not possible as there is no evidence to either encourage or discourage the use of CBE as a screening method in women of any age.
4. Discuss possible participation in a relevant approved clinical trial for the prevention of breast cancer.

 

Category 3 (potentially high risk)

1. Covers much less than 1% of the female population.
2. Includes women who are at potentially high risk of ovarian cancer (see ‘Category 2’ for familial ovarian cancer)
3. Two 1° or 2° relatives on one side of the family diagnosed with breast or ovarian cancer plus one or more of the following features on the same side of the family:
4. Additional relative(s) with breast or ovarian cancer
5. Breast and ovarian cancer in the same women
6. Breast cancer diagnosed before the age of 40 years
7. Ashkenazi Jewish ancestry (Jews from Central and Eastern Europe)
8. Bilateral breast cancer
9. Breast cancer in a male relative
10. One 1° or 2° relative diagnosed with breast cancer at age 45 years or younger plus another 1° or 2° relative on the same side of the family with sarcoma at age 45 years or younger.
11. Member of a family in which the presence of a high risk breast cancer gene mutation has been established.

 

Management

1. Offer referral to a familial cancer service directly or through Genetics Services (see list of familial cancer services) for risk assessment and management planning.
2. Genetic testing may be available if the woman wishes to clarify her genetic risk or that of her family, or wishes to consider risk-reducing surgery.
3. Develop an individual surveillance program in consultation with a cancer specialist (including familial cancer services where possible). Discussion should include information about the advantages and disadvantages of a program that may include:
4. Attending regular clinical breast examinations
5. Annual mammography with or without imaging techniques
6. Surveillance for ovarian cancer
7. The age at which screening commences may be influenced by aspects of family history.
8. Although this should be determined on an individual basis, it is generally accepted practice to begin screening at least five years prior to the age of diagnosis of the closest relative.
9. Discuss possible participation in a relevant approved clinical trial for the prevention of breast cancer.

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