A woman comes to see you because she is approaching the age, 45, at which her sister developed breast cancer. She is worried about her risk and is keen to know if there are any preventive measures she can take.
Women with a significant family history of breast cancer, even if they are negative for the BRCA1 and BRAC2 mutations, remain at increased risk of developing the disease. Having 2 or more cases of breast cancer among close relatives younger than 50 years or 3 cases among close relatives of any age is associated with a risk for breast cancer that is 4 times greater than that seen in the general population.
The data, which were presented at the Seventh Annual American Association for Cancer Research International Conference on Frontiers in Cancer Prevention Research, held in Washington, DC, show that women with a strong family history who lack BRCA1 and BRCA2 mutations are still much more at risk than average women.
"All women are at risk for breast cancer and about 10% will eventually develop the disease," said lead author Steven Narod, MD, who holds the Canada Research Chair in breast cancer at the University of Toronto and Women's College Research Institute, in Ontario. "We need to look at screening those who are at the highest risk. When the BRCA mutation was identified, it led to a genetic test."
Relatively few women carry mutations for BRCA1/2, but it increases the risk for breast cancer to 80%, Dr. Narod pointed out. "These women tend to have a family history or young onset, so they go and get tested . . . . About 1 in 5 of these women will be told that they carry a mutation. but what about the thousands who have a negative test and yet have a strong family history of breast cancer?"
To answer that question, Dr. Narod and colleagues conducted a prospective study in which they estimated risk for women with a family history of breast cancer who had tested negative for a BRCA1 or BRCA2 mutation. They identified 1492 women from 365 families who met the criteria of either having 2 or more breast cancers in members younger than 50 years or having 3 breast cancer in members of any age.
If, however, she meets the referral criteria in the guidelines, refer her to secondary care (either the breast unit or genetics unit, depending on local circumstances), where mammography may be arranged. For women with a very strong family history (for example, four close relatives whose breast cancer was diagnosed in their 30s or 40s) genetic testing, chemoprevention, and prophylactic surgery options may be considered.
Women with a significant family history of breast cancer, even if they are negative for the BRCA1 and BRAC2 mutations, remain at increased risk of developing the disease. Having 2 or more cases of breast cancer among close relatives younger than 50 years or 3 cases among close relatives of any age is associated with a risk for breast cancer that is 4 times greater than that seen in the general population.
The data, which were presented at the Seventh Annual American Association for Cancer Research International Conference on Frontiers in Cancer Prevention Research, held in Washington, DC, show that women with a strong family history who lack BRCA1 and BRCA2 mutations are still much more at risk than average women.
"All women are at risk for breast cancer and about 10% will eventually develop the disease," said lead author Steven Narod, MD, who holds the Canada Research Chair in breast cancer at the University of Toronto and Women's College Research Institute, in Ontario. "We need to look at screening those who are at the highest risk. When the BRCA mutation was identified, it led to a genetic test."
Relatively few women carry mutations for BRCA1/2, but it increases the risk for breast cancer to 80%, Dr. Narod pointed out. "These women tend to have a family history or young onset, so they go and get tested . . . . About 1 in 5 of these women will be told that they carry a mutation. but what about the thousands who have a negative test and yet have a strong family history of breast cancer?"
To answer that question, Dr. Narod and colleagues conducted a prospective study in which they estimated risk for women with a family history of breast cancer who had tested negative for a BRCA1 or BRCA2 mutation. They identified 1492 women from 365 families who met the criteria of either having 2 or more breast cancers in members younger than 50 years or having 3 breast cancer in members of any age.
If, however, she meets the referral criteria in the guidelines, refer her to secondary care (either the breast unit or genetics unit, depending on local circumstances), where mammography may be arranged. For women with a very strong family history (for example, four close relatives whose breast cancer was diagnosed in their 30s or 40s) genetic testing, chemoprevention, and prophylactic surgery options may be considered.
Cancer Breast Symptoms
