Brca2 mutation and their influence to cancer

brca2 mutation and their influence to cancer . and also the types of cancers caused by them. also mentions management and risk factors and classic pedigree of brca2 mutation. also mentions statistics of brca1 and brca2

1. BRCA2 MUTATION AND THEIR INFLUENCE TO CANCER ANTONY n.i

2. What is BRCA2? BRCA1  ( BReast CAncer gene 1) and  BRCA2  ( BReast CAncer gene 2) are  genes that produce  proteins that help repair damaged DNA. Everyone has two copies of each of these genes—one copy  inherited  from each parent.  BRCA1  and  BRCA2  are sometimes called  tumor suppressor genes because when they have certain changes, called harmful (or pathogenic) variants (or mutations), cancer can develop.

3. Mutation of BRCA2 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. Inherited mutations—also called germline mutations or variants—are present from birth in all cells in the body.   Cells that don’t have any functioning BRCA1 or BRCA2 proteins can grow out of control and become cancer . Most  BRCA2  gene mutations lead to the production of an abnormally small, nonfunctional version of the BRCA2 protein from one copy of the gene in each cell. As a result, less of this protein is available to help repair damaged DNA or fix mutations that occur in other genes. As these defects accumulate, they can trigger cells to grow and divide uncontrollably to form a tumor .

4. RISK FACTORS: Certain race ( eg . African americans ) Certain ethnic groups ( eg . Ashkenazi jews ) Family history Platinum drugs like cisplatin, carboplatin etc Other chromosomal disorders

5. STATISTICS

6. Cancers caused by BRCA2 mutation:

7. BRCA TESTING The BRCA gene test is a blood test that uses DNA analysis to identify harmful changes (mutations) in either one of the two breast cancer susceptibility genes — BRCA1 and BRCA2 . The results of genetic testing aren't always clear. A positive result means you carry a gene mutation that increases your risk of cancer and you can work with your doctor to manage that risk . A negative result may mean that you don't have the mutation or that you might have a gene mutation doctors haven't discovered yet. Your test might also identify a gene variant that doctors aren't certain about. In these situations, it's not always clear what the results mean for your cancer risk.

8. AGE TO BE TESTED? children of BRCA carriers wait until they are closer to the age that a BRCA mutation would change their medical management, which is 25 years of age for women and mid-30's to early 40’s for men.

9. WHO SHOULD CONSIDER A BRCA TESTING? onal history of breast cancer diagnosed before age 45 A pe A pers rsonal history of breast cancer diagnosed before age 50 and a second primary breast cancer, one or more relatives with breast cancer, or an unknown or limited family medical history A personal history of triple negative breast cancer diagnosed at age 60 or younger A personal history of two or more types of cancer A personal history of ovarian cancer A personal history of male breast cancer A personal history of breast cancer and one or more relatives with breast cancer diagnosed before age 50, two or more relatives diagnosed with breast cancer at any age, one or more relatives with ovarian cancer, one or more relatives with male breast cancer, or two or more relative s with prostate cancer or pancreatic cancer A personal history of breast cancer and Ashkenazi (Eastern European) Jewish ancestry A personal history of prostate cancer or pancreatic cancer with two or more relatives with BRCA-associated cancers A history of breast cancer at a young age in two or more blood relatives, such as your parents, siblings or children A relative with a known BRCA1 or BRCA2 mutation One or more relatives with a history of cancer that would meet any of these criteria for gene testing

10. Management of BRCA2 mutation: Taking medications (such as tamoxifen and raloxifene , and aromatase inhibitors) to lower the chance of developing breast or ovarian cancer Yearly screening with breast magnetic resonance imaging (MRI) and mammogram, possibly starting at a younger age Clinical breast exams, starting at a younger age and done more frequently Screening for ovarian cancer with transvaginal ultrasound and CA-125 blood tests Engaging in healthy behaviours , such as keeping a healthy weight and exercising regularly Paying attention to how your breasts normally look and feel and letting your doctor know right away if you notice any changes

11. Preventive or "prophylactic" mastectomy , or removal of both breasts, has been found to reduce the risk of breast cancer in high-risk women by about 90 %. Preventive or prophylactic salpingo -oophorectomy , or removal of both ovaries and fallopian tubes, can reduce breast cancer risk by as much as 50% when it is done before menopause, because it takes away the body’s main source of the hormone estrogen .  Hormonal therapy medicines:  Two SERMs (selective estrogen receptor modulators) and two aromatase inhibitors have been shown to reduce the risk of developing hormone-receptor-positive breast cancer in women at high risk . A class of drugs called PARP inhibitors, which block the repair of DNA damage, have been found to arrest the growth of cancer cells that have harmful  BRCA1  or  BRCA2  variants. Four PARP inhibitors— olaparib [ Lynparza ],   rucaparib [ Rubraca ],  niraparib [ Zejula ], and  talazoparib [ Talzenna ]—are approved by the FDA to treat certain cancers bearing harmful variants in  BRCA1  or  BRCA2 . 

12. Cancer screening for men with  BRCA1  and  BRCA2   mutations Men with  BRCA1  and  BRCA2  mutations are more likely to get breast cancer and high grade prostate cancer than other men. Both men and women with  BRCA  mutations are more likely to get pancreatic cancer. If you are a man with a  BRCA1  or  BRCA2  mutation, your doctor may recommend the following: Breast self-exam training and education starting at age 35 Yearly clinical breast exams starting at age 35 Prostate cancer screening starting at age 45, especially for men with a  BRCA2  mutation

13. THANKYOU