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.
the breast cancer gene is of two types BRCA1
gene is present on the chromosome 17 while BRCA2
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
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
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
2012 states that Women who carry a BRCA1
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
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