Read Breast Cancer first.
- It is estimated that, worldwide, more than 1 million new cases of breast cancer are diagnosed yearly.
- The incidence and death rates for breast cancer differ between races but the rates are more common in the Western nations and lowest among the developing world.
- About 1% of breast cancers is found in males and 90% are estrogen receptor (ER)-positive
- The risk of breast cancer increases with age
- The genetically defined group of women with BRCA-1 or BRCA-2 identified to carry lifetime risk of as high as 80%. Women who carry a germ line mutation in BRCA1 genes have a cumulative lifetime incidence of 50% to 85% of developing breast cancer and 40% to 60% of developing ovarian cancer
Genes and breast cancer
The genetically defined group of women with BRCA-1 or BRCA-2 identified to carry lifetime risk of as high as 80%. These genes function in cells in a variety of ways such as
- Repair of damages DNA
- Cell-cycle regulation
- Transcriptional regulation
- Remodeling of chromatin in cells. Chromatin are the gene carrying vehicles in all cells
- BRCA-2 is involved primarily in DNA recombination and repair
The reason why these genes predispose primarily to breast cancers remains unknown. BRCA1 and BRCA2 genes can be carried and passed to children by men as well as by women. A drug tamoxifen has been shown to reduce the risk of contralateral breast cancer by about 50% in both BRCA1 and BRCA2 carriers.
The characteristics of BRCA1 and BRCA2 genes
- BRCA-1 is located in chromosome 17 where as BRCA-2 in chromosome 13
- The percentage contribution of BRCA-1 genes to hereditary breasts cancer is about 20 to 40% where as the BRCA-2 is 1- to 30%
- The lifetime risk of developing breast cancer with is 60 to 85% in both genes
- The lifetime risk of developing secondary breast cancer is about 50% in both
- The risk of developing male breast cancer is minimal in BRCA-1 and about 4-6% in BRCA-2 genes
- The risk of developing other types of cancers such as the cancer of the prostate , pancreas , stomach, ovary and melanoma
Another gene, HER2 presents with its protein over expression in 20% of newly diagnosed breast cancers. HER2 stands for Human Epidermal growth factor Receptor 2.
HER2 gene positive breast cancer is associated with a more aggressive clinical course and decreased survival time compared to tumors with normal levels of HER2. Each normal breast cell contains copies of the HER2 gene found in the DNA of the cell. HER2 contains information that helps to make HER2 proteins.
The HER2 protein is the HER2 receptor found on the surface of some normal cells in the body. The proteins help send growth signals from outside the cell to the inside of the cell and pass the message for cells to grow and divide.
In HER2+ breast cancer, the cancer cells have an abnormally high number of HER2 genes per cell. When this happens, too much HER2 protein appears on the surface of these cancer cells. This is called HER2 protein overexpression. This causes the cells to grow and divide more aggressively. This contributes to growth autonomy and genomic instability where the cells growing hev no control at all.
Symptoms of breast cancer
- Breast cancer is usually first detected as a palpable mass or as a mammographic abnormality. These masses and areas of asymmetrical thickening of breast tissue are the most common manifestations of breast cancer.
- There is nipple discharge, retraction and flattening of the breast. Spontaneous bloody or watery discharge from the nipple is commonly associated with underlying breast neoplasm. Presence of milky discharge almost always has a noncancerous cause.
- Changes in the skin over the breast. There is skin swelling, and erythema.
- Breast pain. the breast pain typically is associated with a palpable lump
- Paget’s disease of the nipple is a form of adenocarcinoma involving the skin and lactiferous sinuses of the nipple; it usually appears as an eczematous lesion of the skin of the nipple. It’s frequently associated with excoriation of the skin and discharge.
- Lumps in the armpits and above the clavicles