Genetics of Breast Cancer in Latinas: 

Breast cancer is the most common non-skin cancer affecting women of all racial/ethnic groups in the U.S. and the most common cause of cancer mortality in Latinas.  One of the major goals of our lab is to understand genetic risk for breast cancer susceptibility in Latina women.  We are pursuing this goal using a variety of approaches including genome wide association and whole exome sequencing.

GWAS: We have an ongoing effort with several colleagues to identify common variants associated with breast cancer in Latinas in the U.S. As part of this project, we identified 6q25 as a locus associated with risk in this population. Specifically, we found an allele which originates from Indigenous American ancestors and, is therefore only common among Latinas with Indigenous ancestry, and which is highly protective for breast cancer risk. Women with one copy of the allele (~20% of Latinas from Mexico or Central America) have ~40% lower risk of breast cancer; women with 2 copies of this allele are even more protected. Of note, this allele is even more protective against estrogen receptor-negative breast cancer, which tends to be a higher risk subset of breast cancer. 

Germline Exome Sequencing: We are using whole exome sequencing to identify genes and rare variants in those genes which are associated with breast cancer in Latinas.  This project is a collaboration with Susan Neuhuasen at City of Hope and funded by NCI and the California Initiative to Advance Precision Medicine. 

Analysis of Breast Tumors from Latina women:  We are using paired tumor/normal whole exome sequencing to identify the genomic loci, and the genes which are frequently amplified, deleted and/or mutated in breast tumors from Latinas. We are also working with RNA-seq data to understand how particular pathways may be contributing to the progression of breast cancer in Latina women.  This project is a collaboration with Susan Neuhuasen at City of Hope and funded by NCI and the California Initiative to Advance Precision Medicine. 

Genetics of Multiple Myeloma:  

Multiple myeloma is a malignancy of plasma cells (antibody producing cells) and is among the most common hematological malignancies (cancers affecting components of the blood or lymph system).  Although substantial improvements have been made in treatment of myeloma, it remains a disease for which there is no cure.  We are studying how germline genetic variants contribute to multiple myeloma susceptibility and progression.  

Genetics of Immunotherapy: 

The immune system is increasingly being recognized as an important predictor of survival among patients with many different types of cancer.  In addition, therapies that target the immune system are routinely being used now to treat (and in some cases achieve long-term complete remissinons) across many cancer types.  However, not all patients respond to immunotherapy and many patients also get immune related adverse events (irAEs), which, in many cases resemble autoimmune diseases.  We are studying how germline genetic variation may affect tumor immune response and irAEs.