Risk of Breast Cancer Associated With Gene Mutations

Breast cancer is a dreaded disease, but survival rates are high for early stage tumors. Though a number of risk factors have been identified, the exact cause of this disease is not very clear.

BRCA, the breast cancer gene is of two types BRCA1 and BRCA2. BRCA1 gene is present on the chromosome 17 while BRCA2 is present on the chromosome 13. They function normally as tumor-suppressor genes. But mutations in these genes inhibit DNA repair and are inherited in an autosomal-dominant fashion, meaning that if one parent has the mutation, each offspring has a 50% chance of inheriting it.

All women who inherit a BRCA1 or BRCA2 mutation have a significantly increased risk of developing breast or ovarian cancer or both, and a mutation in BRCA2 increases risk of melanoma and cancers of the pancreas, stomach, and gallbladder. Breast cancer risk ranges from 50% to 85% by age 50 in women with the mutation and is 12% in women without it.

Women with BRCA mutation should discuss options for risk-reducing surgery (removal of the ‘at-risk’ tissue), intensified cancer screening or surveillance (mammography, clinical breast exams etc), chemoprevention, and “risk avoidance”—behavior modification such as weight control. Although such strategies may decrease breast cancer risk, they may also complicate the lives of women, especially those aged 18 to 39, affecting their decisions regarding relationships, childbearing, and a career.

A recent study published in AJN, American Journal of Nursing in October 2012 states that Women who carry a BRCA1 or BRCA2 gene mutation face a risk of developing breast or ovarian cancer at an earlier age than women without such a mutation. Relatively little is known about the psychosocial consequences—especially regarding marriage and childbearing—in young women who test positive for one of these mutations.

Knowing that one carries a BRCA mutation when young can have many consequences. On one hand, it can empower a young woman to ameliorate her risk of developing cancer and work to detect cancer in its early stages. On the other hand, it can cause her to worry for herself, her children, and other family members. And knowing about genetic risk tends to lead to making fairly stark choices. For example, some participants said that their need to live for their children influenced their decision to move quickly in getting a prophylactic mastectomy. Being diagnosed with breast cancer before being tested for a BRCA mutation can also dictate decision-making. It helps one in early diagnosis and treatment thereby helping in positive lifestyle modifications at an early stage.

Our knowledge in the area of gene mutations and breast cancer is evolving rapidly with increasing number of studies conducted to find newer and better ways of detecting, treating, and preventing cancer in BRCA1 and BRCA2 mutation carriers.

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Source-Medindia