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Breast Cancer and the BRCA Gene
What is Breast Cancer?
Breast Cancer is uncontrolled cell growth in the Breasts. Most Breast cancer begins in the ducts or the Lobules but can spread to different parts of the body through blood vessels and lymph vessels. Cancer that has spread to other parts of the body is metastasized.
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What are the symptoms?
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Change in the size, shape, or appearance of a breast
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Changes to the skin over the breast, such as dimpling
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A newly inverted nipple
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Peeling, scaling, crusting, or flaking of the pigmented area of skin surrounding the nipple (areola) or breast skin
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Redness or pitting of the skin over your breast, like the skin of an orange
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Breast Lump, or thickening tissue that feels different from the surrounding tissue
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Swollen lymph nodes in the underarms or back (although the cancer originated in the breast, it could have spread to the lymph nodes) (American Cancer Society)
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Nipple discharge
How is it diagnosed?
Most women begin getting annual mammograms when they turn 40 years of age. A mammogram is a specially designed x-ray machine that allows doctors to see tumors in breast tissue. It's a quick and painless procedure.
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If you have symptoms before the age of 40, you can request or your doctor may recommend a mammogram. If cancer is suspected, your doctor may perform a breast ultrasound or MRI (other kinds of scans that are also painless, or perhaps a biopsy of a sample of breast tissue or fluid.
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How is it treated?
Breast cancer is treated in similar ways to other cancers; with chemotherapy, radiation therapy, and surgery. A common surgical procedure for breast cancer patients is a mastectomy, which involves the removal of one or both breasts. There are different ways a mastectomy can be done, and many patients opt for reconstructive surgery once they are in remission.
Breast cancer can also be treated with hormone therapy, which involves taking medications that blocks the hormones cancer cells need to grow. Biological therapy is another option, which works with the body's immune system to help it fight the cancer.
Data, statistics, and research
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After skin cancer, breast cancer is the most common cancer to develop among women in the United States.
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Most breast cancers are diagnosed after the age of 50.
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Starting their menstrual period before age 12 and menopause after age 55 expose women to hormones for longer, increasing their chance of developing breast cancer.
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Having dense breasts (more connective tissue than fatty tissue) raises an individual's likelihood of developing breast cancer.
The BRCA Genes
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The BRCA1 ( BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are tumor suppressor genes, meaning that, when functioning normally, they stop tumors from growing. When they are altered or mutated they can increase the risk of developing cancer, and give people a much higher chance of developing breast and (where applicable) ovarian cancer.
Everyone, including men, inherits two copies of each of these genes, one from each parent. A harmful variant in BRCA1 or BRCA2 can be inherited from either parent. Each child of a parent who carries any mutation in one of these genes has a 50% chance (or 1 in 2 chance) of inheriting the mutation, which leads to a raised risk of cancer development: a 60% chance of developing breast cancer versus the 13% chance of the general population.
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People with family histories of breast cancer can now be tested for BRCA1 and 2 mutations early in life. If a harmful variant is identified, people can opt for preventative surgery; either a double mastectomy (removal of both breasts) or salpingo-oophorectomy (removal of an ovary and its fallopian tube) or both. There are also medications that can reduce the risk of developing cancer.
Research
A systematic review of the international prevalence of BRCA mutation in breast cancer
Nigel Armstrong, Steve Ryder, Carol Forbes, Janine Ross & Ruben GW Quek
Clinical Epidemiology, Volume 11, 2019, Pages 543-561
This 2019 investigation focuses on the prevalence of BRCA gene mutations in breast cancer patients globally. The aim was to bring awareness to populations who would benefit from preventative treatment therapies for the BRCA mutation. They utilized a range of online databases and rigorous review methods to draw conclusions for the countries they researched. The study found that BRCA1/2 mutation prevalence varied widely, from 1.8% in Spain in sporadic breast cancer to 36.9% in the U.S. This would imply that an epigenetic factor is at play; that environment–in addition to the gene mutation–factors into risk.
Case Studies
Angelina Jolie: "My Medical Choice"
“My mother fought cancer for almost a decade and died at 56…My doctors estimated that I had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer, although the risk is different in the case of each woman.” Read Angelina Jolie’s story, and why she opted for a mastectomy when finding out, she has the BRCA 1 gene.
Mom Uses IVF to Protect Daughter From BRCA Mutation
“Fertility doctors are now able to test embryos to detect any BRCA mutation in a process called "preimplantation genetic diagnosis." After a woman undergoes an IVF cycle, the resulting embryos can be tested for the BRCA gene mutation and the patient can then decide whether or not to implant that embryo.”
