Breast Cancer - Mutations in the BRCA 1 & 2 genes

1. Breast Cancer - Mutations in the BRCA 1 & 2 genes the New York Edition Jess Sideleau and Victoria Picerno, class 3

2. Testing Recommendations Newborns SHOULD be tested! • Why: • Aware of lifestyle changes • Oral medication (Tamoxifen) • Preventative Surgery • -Research • -Imperative to treat ASAP • Women  higher risk for ovarian cancer • Men  higher risk for prostate cancer • http://www.breastcancer.org/symptoms/testing/genetic/pros_cons.jsyp Picerno

3. Background / Genetics Mutated Gene*: BRCA1 & BRCA2 -Located on Chromosome 17 & 13 Type of Mutation*: -Genetic mutations; pathogenic missense -Germline Mutation Function: -Repairs PTEN gene by “sewing” back together Function when mutated: -Stops repairs Inheritance pattern*: Autosomal Dominant http://medicalcenter.osu.edu/patientcare/healthcare_services/breast_health/hereditary_breast_ovarian_cancer_syndrome/Pages/index.aspx http://medicalcenter.osu.edu/patientcare/healthcare_services/breast_health/hereditary_breast_ovarian_cancer_syndrome/Pages/index.aspx * Picerno

4. Characteristics • Symptoms**: • Change in size or shape of breast • Peeling / Flaking of the nipple • Redness • A lump (different from the normal tissue) • Dimpling **Stage 5-year Survival Rate 0 100% I 100% IIA 92% IIB 81% IIIA 67% IIIB 54% IV 20% Age of Onset*: -Patients with BRCA1 & BRCA2 age ~30+ -General breast cancer age ~40+ http://webcache.googleusercontent.com/search?q=cache:9Sb201rjDuMJ:www.cme.hu/dlObject.php?aid%3D16%26/269-271moller.pdf+inherited+breast+cancer+age+of+onset&hl=en&gl=us * http://www.imaginis.com/breast-health/staging-and-survival-rates-of-breast-cancer-3 ** Picerno

5. Treatments Lumpectomy Mastectomy -NO 100% CURE  Radiation Therapy Sentinel node biopsy https://www.mayoclinic.com/health/breast-cancer/DS00328/DSECTION=treatments%2Dand%2DdrugsPicerno

6. Disease Incidence = = 13.2% of women will develop breast cancer in their lifetime. The population of New York is 18,976,457. Approximately half of this population is women. 13 xx = 1,233,469 women will develop breast 1009,488,228cancer in New York. 5 to 10 percent of women develop breast cancer from the mutation in their genes. 5 x 10 x x = 61673 to 123346 100 1,233,469 100 1,233,469 of women develop breast cancer from mutations. = to http://www.dslrf.org/mwh/content.asp?L2=2&L3=1&SID=135 Sideleau

7. Demographics • Ashkenazi Jews are one ethnic group that are specifically targeted for mutations in BRCA genes 1 and 2. They populate about 12% of New York, therefore • People from Norwegian, Dutch, and Icelandic ethnic groups also have a higher chance of having BRCA1 and BRCA2 mutations. http://www.ipl.org/div/stateknow/popchart.html#statesbypop Sideleau

8. Testing and Cost • Multiple tests are available for breast cancer in general, but there is a certain test for BRCA mutations. - Blood is drawn and tested. - This test actually tests the DNA itself, rather than testing proteins. - Cost for mutation testing is $300 on average. [with help of medical insurance.] - 253,539 births in NY x $300 = $76,061,700 a year spent on genetic testing for BRCA mutations. - Testing can be done on any person, including newborns. - Note: Just because you may have the inherited mutation does not mean you are guaranteed to get breast cancer. www.breastcancer.org%2Fsymptoms%2Ftesting%2Fgenetic%2Ffacility_cost.jsp&h=59b30OP93Z5-d8aVbVieMli8DegSideleau

9. Testing and Cost [cont’d] • Another option for testing for breast cancer, but not the BRCA gene mutations, are mammograms. - Mammograms are x-rays which examine the tissue for any abnormalities. - They are known to be the best screening tool for finding out if an individual has breast cancer or not. - Cost is $100-300 per test. - Mammograms can not be performed on newborns. http://www.cancer.gov/cancertopics/factsheet/Risk/BRCASideleau

10. Summary of Position on Genetic Testing *Newborns should definitely be tested for BRCA gene mutations. * • If parents of a newborn know that the baby has a mutation, they can raise the individual in a way that there is a lesser chance of them getting breast cancer. • It may be expensive, but medical insurance covers most of the cost. • Testing for mutations in the BRCA genes 1 and 2 is no more painful than any other blood test. • If you know you have the mutation, you can then be tested (mammogram) later in life, to see if you actually have breast cancer. Sideleau

11. Works Cited "BRCA1 and BRCA2: Cancer Risk and Genetic Testi - National Cancer Institute." National Cancer Institute - Comprehensive Cancer Information. Web. 21 Nov. 2010.  "Breast Cancer: Treatments and Drugs - MayoClinic.com.” MayoClinic.com. Mayo Foundation for Medical Education and Research. Web. 17 Nov. 2010. "Genetic Testing Facilities and Cost." BreastCancer.org - Breast Cancer Treatment Information and Pictures. Web. 21 Nov. 2010. "Hereditary Breast Ovarian Cancer Syndrome (BRCA1 / BRCA2)." Medical Center. The Ohio University Medical Center. Web. 15 Nov. 2010. Infoplease: Encyclopedia, Almanac, Atlas, Biographies, Dictionary, Thesaurus. Free Online Reference, Research & Homework Help. — Infoplease.com. Web. 21 Nov. 2010 "Menopause & Women's Health - Inherited Mutation." Dr. Susan Love Research Foundation. Web. 21 Nov. 2010. "Newborn Screening Program - Biotinidase Deficiency." Illinois Department of Public Health Home Page. Web. 21 Nov. 2010. "Staging and Survival Rates of Breast Cancer | Breast Health Resource Center." Imaginis The Women's Health Resource. Medtronic Inc. Web. 21 Nov. 2010. "States - Ranked by Size & Population - Ipl2 Stately Knowledge: Facts about the United States." Ipl2: Information You Can Trust. Web. 21 Nov. 2010.