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Lesson 03.06 Mutations

Lesson 03.06 Mutations
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Shelby Coniglio

on 2 November 2012

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Transcript of Lesson 03.06 Mutations

Mutations Lesson 03.06 1. Mutation leads to genetic variation, usually, when there is replacement of one existing nucleotide with another and that leads to a heritable change in a certain phenotype.

2. Sexual reproduction leads to genetic variation, as opposed to asexual variation, where two individual's contribute one half of each chromosome to create a separate, third genetically distinguishable organism. The BRC1 mutation seems to be more dangerous than the BRC2 mutation simply because there is a higher percentage of patients with that mutation and that have died from it as well. A woman's lifetime risk of developing breast cancer is approximately 12 percent, but there are certain BRCA mutations which increase the risk for women to 50-80 percent. For ovarian cancer a BRCA mutation means that a woman goes from a 1.4 percent risk to a 40-60 percent jump.
What are BCRA1 and BCRA 2 mutations? The term BRCA itself stands for breast cancer susceptibility. BRCA1 and BRCA2 belong to a class of human genes which, in a perfect world, suppress tumors. If these genes mutate, then one is considered as having a hereditary risk of breast and ovarian cancer.

The BRCA1 and BRCA2 mutation means that a woman has an increased risk of breast and/or ovarian cancer before menopause. Usually, close family members will have also been diagnosed with cancer at an early age also. These harmful mutations also increase the risk of cervical, colon, uterine, stomach, melanoma and gallbladder cancer.


There are no standard criteria for who should be tested for the BRCA gene mutation, however if you have family members who have had cancer, it is a clue. If any of these family members were young; before menopause, it is a good idea to consider testing for the gene. It would be a very good idea to ask the family member to test for the BRCA mutation, so that the rest of the family members could get a heads up.

According the National Cancer Institute, the risk of having the mutation is higher if you are of Ashkenazim Jewish descent. If this is the case, pay attention to whether any first degree relative, such as a parent or sibling has been diagnosed with cancer. Also, find out if any second degree relatives, such as a grandparent, half-siblings, nieces or nephews had cancer.

Pay special attention to relatives that are male, and whether the relative had cancer in both breasts (bilateral breast cancer,) and a combination of two or more first or second degree relatives diagnosed with ovarian cancer, regardless of their age at the time of diagnosis.

If you have been diagnosed wit the BRCA1 or BRCA2 gene mutation, you are particularly in need of support from family and friends. Some people turn to the national advocacy group called Bright Pink. This organization is specifically geared to young women at high risk of breast and ovarian cancer. Many young women are thoroughly relieved to find out that they are not the only one suffering alone.

List of Advocacy groups:

As disheartening as this information is, it empowers us. It is lifesaving because once you know, you understand what you must do. The protocol for women with the BRCA mutations is to do nothing until the age of 25 and after that begin a screening regimen which alternates between mammograms, ultrasound and a MRI every six months. At age 35 a woman is advised to consider a double mastectomy followed by a complete oophorectomy (removal of one or both ovaries) at age 40.

The solution to the BRCA1 and BRCA2 gene mutations is hard to bear, but you can still live your life following a mastectomy and an oophorectomy. Most women are done bearing and nursing their children by the time they are in their mid-30's. Mothers then want to be around to raise their children, they want to be around to see their grandchildren born and they want to continue the companionship with their mate. With advanced cancer technology and solutions, many women are able to do just that! Explain how breast-cancer genes are still present in the population, despite cancer-related surgeries and deaths. Breast cancer (malignant breast neoplasm) is a type of cancer originating from breast tissue, most commonly from the inner lining of milk ducts or the lobules that supply the ducts with milk. Cancers originating from ducts are known as ductal carcinomas; those originating from lobules are known as lobular carcinomas. Breast cancer is a disease of humans and other mammals; while the overwhelming majority of cases in humans are women, men can sometimes also develop breast cancer.
The size, stage, rate of growth, and other characteristics of the tumor determine the kinds of treatment. Treatment may include surgery, drugs (hormonal therapy and chemotherapy), radiation and/or immunotherapy. Surgical removal of the tumor provides the single largest benefit, with surgery alone being capable of producing a cure in many cases. To somewhat increase the likelihood of long-term disease-free survival, several chemotherapy regimens are commonly given in addition to surgery. Most forms of chemotherapy kill cells that are dividing rapidly anywhere in the body, and as a result cause temporary hair loss and digestive disturbances. Radiation is indicated especially after breast conserving surgery and substantially improves local relapse rates and in many circumstances also overall survival. Some breast cancers are sensitive to hormones such as estrogen and/or progesterone, which makes it possible to treat them by blocking the effects of these hormones.
Worldwide, breast cancer comprises 22.9% of all cancers (excluding non-melanoma skin cancers) in women. In 2008, breast cancer caused 458,503 deaths worldwide (13.7% of cancer deaths in women).Breast cancer is more than 100 times more common in women than breast cancer in men, although males tend to have poorer outcomes due to delays in diagnosis.
Prognosis and survival rates vary greatly depending on cancer type, staging and treatment. However, survival rates across the world are generally good.Overall more than 8 out of 10 women (84%) in England that are diagnosed with the disease survive it for at least 5 years. There's a sort of a higher risk for breast and ovarian cancer with BRCA1 mutations than with BRCA2 mutations but breast cancer in males is associated with BRCA2 mutation. In my own opinion, they are equally bad to me. the BRC1 gene is mainly for ovaries and breast.A woman’s lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1. These are hereditary

Either on son or daughter, Approximately 50% to 65% of women born with a deleterious mutation in BRCA1 will develop breast cancer by age 70, and 35% to 46% will develop ovarian cancer by age 70.
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