Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women in India. In women the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer).
In its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer.
In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.
A huge population of India is a country with wide ethnic, cultural, religious. Economic diversities and variations in the health care. The health care facilities pattern is heterogeneous, with numerous region where the benefits of breast cancer awareness, early diagnosis and multidisciplinary treatment programs have not yet reached.
The variation in incidence may be due to multiple factors, including geographic variation, racial/ethnic background, genetic variations, lifestyle, environmental factors, socioeconomic status, the presence of known risk factors, utilization of screening mammography, stage of disease at the diagnosis and the availability of appropriate care.
Global breast cancer incidence increased from 641,000 (95% confidence intervals 610,000—750,000) cases in 1980 to 1,643,000 (1,421,000—1,782,000) cases in 2010, an annual rate of increase of 3·1%. For women aged 14—60 years, twice as many breast cancer cases were recorded in developing countries than in developed countries. This variation in incidence may be due to multiple factors, including geographic variation, racial/ethnic background, genetic variation, lifestyle, environmental factors, socioeconomic status, the presence of known risk factors, utilization of screening mammography, stage of disease at diagnosis and the availability of appropriate care.
The health care burden related to breast cancer in India has been steadily mounting. Over 100,000 new breast cancer patients are estimated to be diagnosed annually in India.
Limited treatment capacity
Breast cancer is largely preventable but women need to be screened every three to five years to halt the deadly disease. In India, most health care facility and some of regional referral hospitals are still limited in their ability to treat breast cancer. For the case of Indian health system, the main health center in the district lacks the sufficient capacity. Patients who report breast cancer at its advanced stage are referred to Other Cancer Research Institute’s at district Hospitals for further management. Others, due to limited resources, decide to stay home and die of the disease. Currently, few women especially those in District and other rural areas of India can’t afford the cost of treatment at district Hospitals; many can’t even raise the cost of transport to the others cancer hospitals.
Limited access to information by rural women
With little information on the disease available to women in India, our major worry is that it will continue to go undiagnosed and untreated if no urgent effort for an adequate outreach Program for screening and treatment of the disease in early stage is done. Some few awareness campaigns about the disease by some corporate companies, media houses in partnership with Ministry of Health and Cancer registry program have been organized and conducted but these are only concentrated in the capital regions leaving rural women completely unaware of the disease and dying in silence. Most of the woman had never been screened for the disease, and they said they never assessed patients if they had been screened or referred for screening.
A small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts.
Familial and Genetic Breast Cancer in Indian Women
Genes for Breast Cancer
BRCA1 (breast cancer1, early onset) is a human tumor suppressor gene which produces a protein called the breast cancer type 1 susceptibility protein. It is found in the cells of breast and other tissues, where it helps in repairing damaged DNA and in destroying the cells when their DNA cannot be repaired. If BRCA1 itself is damaged, the damaged DNA can let the cell duplicate without control, and this can turn into a cancer. The protein which is encoded by the BRCA1 gene combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex which is known as the BRCA1-associated genome surveillance complex (BASC). The BRCA1 protein associates with RNA polymerase II, and through the C terminal domain, also interacts with the histone cyclase complexes. This protein thus plays a role in the transcription DNA repair of double-stranded breaks, ubiquitination, transcriptional regulation, as well as other functions.
Almost a third of all breast cancer patients are believed to have familial disease pattern, and some 5% are believed to be hereditary, with the BRCA1 and BRCA2 gene mutations having been identified as the major genetic causes. In an Indian study on 226 breast cancer patients, 20.7% had a positive family history. On the contrary, numerous other studies have reported a low rate of familial pattern of breast cancer in Indian patients. This is particularly interesting given the relatively young age of Indian breast cancer patients. At SGPGIMS Lucknow, only about 5% of all patients managed had a definite family history of breast and/or ovarian cancer in first degree relatives, similar to the figures available from other Indian centers. Genetic screening/diagnosis is not routinely performed in most Indian center due to paucity of funds and facilities. As a result, there is scarce data on the genetic composition and BRCA1/2 mutations in Indian patients. The available studies hint at a rather low incidence of BRCA mutations. In most populations, 6–10% of patients with breast cancer have mutation in BRCA gene irrespective of their family history. Though there are no robust figures, various Indian studies have reported BRCA mutations in 9–25% of familial breast cancer cases. Hedau et al. demonstrated 3 novel BRCA1 mutations including a founder Ashkenazi Jewish BRCA1 mutation in Indian breast cancer patients.
Genetic Basis of Breast Cancer
Genetics is also a risk factor for breast cancer which is caused by an alteration in the genes or in the expression of the genes. Cell division and cell death are governed by several genes which are known to cause cancers. The functions of proteins which are coded by genes which are implicated in cancers:
• A signaling pathway for cell proliferation
• Cytoskeleton components which are involved in the maintenance of contact inhibition
• Regulation of the cell cycle
• Programmed cell death (apoptosis)
• DNA repair mechanisms
Families which are at a high risk need a closer surveillance for the cancer of the breast. Mutation detection in these families helps in the definitive identification of the carrier and thus, in the identification of the subjects who require a close “follow-up” and also those who do not.
Genomic studies allow scientists to look at specific genetic variations and mutations across a vast number of genetic samples, all at once. Through these studies, scientists can determine whether a particular toxic exposure repeatedly results in the same kinds of genetic mutations, if similar exposures reliably turn some genes off and others on, or if different types of tumors (as they are understood in clinical medicine) also have different genetic profiles.
In Genome-wide Association Studies (GWAS), scientists study the full genome (the entire sequence of human DNA) to find genetic variations that are associated with diseases, including breast cancer. This approach can often find associations between genes that have subtle effects on the risk for a particular disease.