BRCA1
BReast CAncer gene- 1
By: Kyle Tallio
Overview
• Tied to Breast, Ovarian, Melanoma,
Stomach, and pancreatic cancer
• BRAC1 is a tumor suppressor gene.
– Rather than being a gate keeper it is
considered a Caregive
DNA Repair
Breast Cancer
• Breast Cancer is responsible for 26 % of
cancer cases in women
• It is the 2nd most common cancer behind
lung cancer
• Women have a 1 in 8 chance of acquiring
breast cancer over the course of their life
time.
BRCT1
BRCA1 in Complex with BRCT
C Terminus (Blue)
where BRCT fixes
N Terminus (Red)
where
BRCA1 in complex with BARD1
BRCA1’s effect on Cancer
• A variety of mutations occur to effect
BRCA1
– Some mutations shorten the gene, while
others delete it altogether
– Someone with these mutations is at an 80%
risk of acquiring cancer by the time they are
80%
Genetic Screen
• Mutations that cause
BRCA1 to lead to
heritable breast
cancer can be
screened for.
• At right, mutation
5382insC is shown in
column 4.