Detection of Hereditary Breast Cancer - PC\|MAC

Detection of Hereditary Breast Cancer - PC\|MAC

Detection of Hereditary Breast Cancer Breast Cancer Genes Two genes associated with inheritance of breast cancer Breast cancer gene 1 (BRCA1) Chromosome 17 BRCA 2 Chromosome 13 When normal Both are tumor suppressor genes Repair damage and prevent cancer cells from forming When mutated

Lead to breast or ovarian cancer BRCA 1 and BRCA 2 5 to 10% of all breast cancers are because of these genes Women 12% chance of developing breast cancer in lifetime Goes up to 85% if said woman has mutated BRCA 1 or 2 If male has BRCA 2 mutation 1 in 10 ratio of getting breast cancer (100,000 jump) Family Members Judy is worried!!!!! Jennifer has DNA sequencing

Jennifer had breast cancer Test positive of BRCA 2 (negative for BRCA 1) Laura Tests positive for same mutation as Jennifer BRCA2 We will be looking at BRCA2 Contains 80,000 nucleotides 600 mutations associated with BRCA2 Most cause increased incidence of breast cancer (not all) Most of these mutations are insertion or deletion

Marker Analysis (Haplotyping) Due to expense of DNA sequencing We will use marker analysis to test Jennifer and Diana Marker analysis Genetic test Gene mutation is analyzed using a genetic marker Instead of analyzing genet itself Genetic marker: short sequence of DNA associated with a particular gene or trait with a known location on a chromosome

Short Tandem Repeats Genetic markers used in marker analysis are short DNA sequences Also called microsatellites STR = region of DNA composed of a short sequence of nucleotides repeated many times. Number of repeated STRs varies from person to person Different number of repeats = different alleles Most occur in introns (non-coding DNA) Do not affect gene function STR for BRCA 2

Location = chromosome 13 STR analysis for this lab It is on 13, next to BRCA 2 gene Gel Electrophoresis Different STRs have different repeats Gel will separate alleles based on number of repeats More repeats travels less Less repeats travels more Loading Samples

5 uL: 130 Volts for 30 minutes Lane #1: DNA Size Markers Lane #2: Helens DNA Lane #3: Harolds DNA Lane #4: Susans DNA Lane #5: Adams DNA Lane #6: Negative Control

Determining Size of DNA Fragment Using a ruler Measure (ON EACH BAND!!!!) Distance of DNA fragment from origin (gel well) Distance from the origin (gel well) to the tracking dye Calculate the Rf value Distance the DNA fragment has migrated from the origin (gel well) Rf = Distance from the origin (gel well) to the reference point (tracking dye) DNA Size Markers Fragment Length in Base Pairs

Fragment 1 1353 Fragment 2 1078 Fragment 3 872 Fragment 4

603 Fragment 5 310 Fragment 6 281 Fragment 7 234

Fragment 8 194 Distance Migrated (mm) A Distance to Reference Point (mm) B Rf AB

DNA Sample: Diana Fragment: Fragment 1 Fragment 2 Jennifer Fragment 1

Fragment 2 Laura Fragment 1 Fragment 2 Judy Fragment 1 Fragment 2

Distance Migrated (mm) A Distance to Reference Point (mm) B Rf AB DNA Sample: Fragment:

Diana Fragment 1 Fragment 2 Jennifer Fragment 1 Fragment 2 Laura

Fragment 1 Fragment 2 Judy Fragment 1 Fragment 2 Fragment Length (in base pairs) Allele Present:

Fragment Length in Base Pairs: Allele: 200 Allele 1 300 Allele 2 400

Allele 3 500 Allele 4 600 Allele 5 700 Allele 6

800 Allele 7 900 Allele 8 1000 Allele 9 Questions

1. Which allele is associated with the BRCA2 mutation? Explain your answer. 2. Which family members have the BRCA2 mutation? Explain your answer. 3. Explain whether you think Judys family occurrences of breast and ovarian cancers are sporadic, hereditary, or familial. 4. Is Judy a good candidate for BRCA1 or BRCA2 genetic testing? Explain your answer.

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