Genetic testing has become an extraordinary tool in the fight against breast cancer in young women. Due to advancement of scientific research, the identification of the genetic markers of disease through the collection and analysis of an individual DNA is possible today. Genetic testing can help to identify which diseases an individual is predisposed to and then, by suggesting certain life style changes or repairing or replacing the genes possible, helps that patient to avoid potential illness. About 10% breast cancer is termed as hereditary.
A hereditary breast cancer may cause due to the age of onset of breast cancer, prevalence of other types of cancer in a family and the number of relatives suffering from cancer and their relationship with the patient. For assessing hereditary breast cancer, a genetic counselor will necessarily gaze at patient’s family’s medical information known as pedigree starts from first-degree relatives (parents, children and siblings) and then second-degree relatives(grand parents , uncles and aunts) and then third-degree relatives such as cousins.
In the U. S. A, every year about 200. 000 women and 1500 men is being diagnosed with breast cancer and about 5% of these are in women in the age of 40 and under. About 12% or One in eight of U. S women aged 90 years or younger will suffer from breast cancer sometimes during her life time and 1. 4% or one in 70 will suffer from ovarian cancer and about 23000 U. S. women develop ovarian cancer each year. The U. S.
Preventive services Task Force (USPSTF) suggests against routine recommendation for genetic counseling or routine breast cancer susceptibility gene (BRCA) examining for women whose family history is not associated with an augmented risk for deleterious mutations in breast cancer susceptibility gene1 (BRCA1) or breast cancer susceptibility gene 2(BCRA 2) . The USPSTF advises that women whose family history is related with an augmented risk for deleterious mutations in BRCA1 or BRCA 2 genes be referred for genetic counseling and evaluation for BRCA testing.
If any woman is tested positive for a known mutation, she can select medical options to lessen the risk for cancer or diagnose disease at an early stage. It is to be borne in mind that test can only spot the two most common genes engaged in hereditary breast cancer but under certain situation, even a negative test may not rule out hereditary breast cancer in a family. It is interesting to note that not every individual who bears a mutation will suffer from cancer at a later stage and genetic testing can not discover breast cancer nor it forewarn you with certainty when you grasp cancer at some stage in your life .
Undergoing genetic test may help to choose treatment methods and follow-up care for breast cancer patients and survivors. More over, if a cancer patient is the first patient to have a genetic test in a family, then test result may assist to identify the cause of hereditary cancer in a family. The main aim of this thesis is to focus how genetic test in younger women with a family history of breast cancer can help to minimize the chance of contracting breast cancer and early test results may help the young patient to undertake medical precautions to avoid in contracting such worst disease at a later stage.
2. BACKGROUND AND SIGNIFICANCE: Every living thing is gifted with the genes which may be described as nature’s blue print. Usually genes come in pair. One set of gene is passed through your mother and other set is from your father. It is the genes which determine how your body will function and grow and color of hair and eyes. Sometimes the genes may not perform well as they have some defects in them. Such gene is called mutated or altered gene. It is called inherited altered gene if a gene with mistake is passed along in family members.
Certain altered genes may result in cancer and gene alterations have been found in many families with a history of breast cancer. With the availability of genetic testing commercially now, young women especially with hereditary breast cancer have to decide to go for genetic testing to determine whether they carry a mutation in BRCA 1 or BRCA 2 that enhances of chances of contracting breast or ovarian cancer. Genetics testing may affect psychosocial functioning, health practices and associations with wards and finances.
Another study reveals that there is 50% probability of carrying the mutation by the children when parents tested positive for a mutation in BRCA 1 and BRCA 2. In a retrospective review of 639 women at high risk for contracting breast cancer who underwent prophylactic mastectomy between 1960 and 1993, Hartman et al. (1999) found out that a 90% reduction in the incidence of breast cancer. Prophylactic oophorectomy is a preventive method that is suggested to women with a mutation in BRCA1 or BRCA2.
Garber, Kuntz, Schrag, Weeks (2000) estimated a 50% reduction in ovarian cancer risk after the surgery due to findings from genetic testing. As per Rebbeck (2000) prophylactic oophorectomy reduces about a 50 to 70 % breast cancer risk. Early stage detection of ovarian cancer is low and hence Prophylactic oophorectomy is often used to detect the same . As per Frank (1998) although surveillance is carried through biannual professional examination, ultrasonography and CA 125 testing to women with mutations, the actual efficacy of these surveillance measures is unknown.
BCRA 1 and BCRA 2 mutations can be innate from either mother or the father. The National Cancer Institute has revealed that some factors which are independent of each other which increase the chances that a person inherits BRCA mutation and they include: 4 1. A family record of a number of (three or more) close blood relatives (sisters, daughters, mother and grandmothers, aunts) suffered with breast cancer, ovarian cancer or both. 2. A family record of a early onset ( before 50 or before menopause) breast or ovarian cancer in one or more close blood relatives (mother, daughters ,sisters , aunts or grandmothers )
3. A family record of one or more near blood relatives (mother , sisters, grandmothers ,daughters , aunts ) 4. A family record of one or more close male blood relatives ( father, grand fathers ,brothers , sons , uncles ) 5. Jewish ancestry namely Ashkenazi (Eastern European) and a family history of breast and or ovarian cancer. It is to be noted that both maternal and parental family history is pertinent for identifying a person’s risk for breast / ovarian cancer. The earlier we diagnose, the breast cancer can be easily contained and defeated.
If diagnosed late, it spreads to lymph nodes and becomes incurable. 3. Preliminary Data Each year about 39000 women and between 200 and 300 men are prone to breast cancer in UK. As per U. K. Government statistics number of people who developed breast cancer every year has increased by 70% since 1971 and 15% in the ten years to 2000. About 80 % of U. K Women contract breast cancer in the age between 60 and 64. Only 5% of breast cancers (around 2000) are diagnosed in women under the age of 40 and 2% (800) in women under 35.
Almost three-quarters of women diagnosed breast cancer in 1991-1995 were alive five years later. And that increase to 78% where cancer is detected by screening . The death rate among young and middle aged due to breast cancer has come down almost a third since 1980 and three out of four women can now beat the disease. In another study it was find out a woman with a strong family history of breast / ovarian cancer and bear a germ line mutation in one of these germs is sustained to a life time risk of breast cancer about 85% and about 60% for ovarian cancer is a very alarming one.