Investigating the BRCA1 Mutation

F.R.E.S.H Docs

Angelina Jolie

Actress, Film director, and Screenwriter

Mother had Breast Cancer and died at 56 from Ovarian Cancer

Jolie decided to undergo a double-mastectomy in order to reduce her risk of developing cancer

To establish what the BRCA1 mutation is. To learn the cellular function of BRCA1. To thoroughly investigate how disturbance of

these functions ultimately leads to cancer.

What Are The Specific Objectives For Our Group Study?

The gene that the BRCA1 is located on, codes for a protein that repairs DNA.

The DNA can be damaged during replication or from exposure to carcinogens.

When the DNA breaks, the cell cannot pass on damaged genetic material, so it will self destruct through apoptosis.

Cell Functioning without BRCA1 mutation

BRCA1 mutation is a change made to a gene which normally codes for a protein that functions to repair damaged DNA.

This gene is located on the 17th chromosome.

What is the BRCA1 mutation?

There are two noted mutations in the BRCA1 gene that lead to 80% to 90% of the cancers developed from mutations within this gene’s sequence.

These mutations specifically result from the addition or subtraction of one or more nucleotides from this sequence.

When DNA is damaged, multiple proteins within the cell work to recognize the damage and correct it

The BRCA1 mutation may code for a protein that no longer correctly repairs the DNA

The cell then may replicate the mutated DNA, which leads to a higher rate of mutation

This generates a greater chance that the specific mutations, which cause cells to divide uncontrollably, will develop.

How does the mutations lead to cancer?

The BRCA1 mutation gives women a 60% to 80% chance of developing Breast Cancer, and 20% to 45% chance of developing Ovarian Cancer.

Women without the BRCA1 mutation have a 13% chance of developing Breast Cancer in their lifetime.

Men possessing BRCA1 mutation have a 1% to 5% chance of developing Breast Cancer.

Men may be at such less of a risk because they do not have the high levels of the hormone estrogen.

What are the odds of developing cancer with this mutation?

No, the gene does not skip generations.

Children of a parent with the mutation have 50% chance of inheriting the mutation.

The mutation is genetically inherited dominant, yet its phenotypic interaction within the cell might not actually lead to its expression.

Carrying this mutation does not guarantee that cancer will develop, it just makes the chances that it will develop very high.

Does the BRCA1 mutation inheritance skip generations?

Having a mutated BRCA1 gene does not guarantee that cancer will develop; it leads to a higher rate of mutation

In order for cancer to develop there are a number of specific mutations to the cells DNA that need to occur and even with the BRCA1 mutation, it is rare that these will all unfold within a single cell

Yet, there are billions of cells in the breast and ovarian tissues resulting in a greater chance that cancer will develop

Conclusion

Are there preventative measures being explored specifically dealing with the manipulation of genetic sequencing?

If someone discovers that they have the BRCA1 mutation, how does it affect their life from that point?

Is testing for this BRCA1 mutation offered at any age?

Additional Questions

http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA

http://journals.cambridge.org/fulltext_content/ERM/ERM3_14/S146239940100309Xsup004.htm

http://ghr.nlm.nih.gov/gene/BRCA1

http://inthefamily.kartemquin.com/content/brca-101

http://breakthroughs.cityofhope.org/latinas-breast-cancer-genetics/2991/

http://www.cancer.gov/cancertopics/understandingcancer/targetedtherapies/breastcancer_htmlcourse/page5

http://en.wikipedia.org/wiki/File:Autodominant_en.svg

http://leeasbell.wordpress.com/2012/05/29/brca1-and-brca2-risk-stats-simplified/

https://www.23andme.com/health/BRCA-Cancer/

Sources