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Credit: Jason Meredith

Huntington’s disease and cystic fibrosis are caused by mutations in single genes. Many diseases are determined by more than one gene, including asthma, autism, multiple sclerosis and type 1 diabetes. Breast cancer, which can affect both women and men, can be inherited or caused by somatic mutations, which are alterations in your DNA that happen after you are conceived (they are not passed on to you from your mother's or father’s DNA).


What Gene or Genes are Related to Breast Cancer?


1. Go to the OMIM database:

2. Search OMIM for “breast cancer.”

3. From the list of results, choose “114480. BREAST CANCER” in the search list. 

4. You will see a “Phenotype-Gene Relationships” table. The “Gene/Locus” column in this table tells you which gene is responsible for the phenotype, or the disease, as well as for any conditions related to the disease. The “TEXT” section below the table discusses the different genes that researchers have found to be associated with breast cancer.

5. Write down the gene names that have been associated with breast cancer.

One gene that is not listed in the above entry is BRCA1 , which has its own OMIM entry. Mutations in the BRCA1 gene can lead to breast cancer and can dramatically increase your chance of developing breast cancer if you are a carrier of a BRCA1 mutation.  As a researcher, you're thinking that if you can discover what the protein made by BRCA1 does inside a cell, you can hypothesize how mutations in the gene could increase someone’s chances of getting breast cancer.


Additional Resources

National Cancer Institute's Breast Cancer information