Inherited mutations linked to breast cancer
Inherited mutations in the following genes have been linked to breast cancer in women.
Mutations in the following genes may also be linked to increased breast cancer risk.
Inherited mutations in the following genes have been linked to breast cancer in men.
The following clinical trials are open to people diagnosed with breast cancer with an inherited mutation.
Advanced solid tumors of any type, including breast cancer
- NCT03565991: A Phase II Study to Evaluate the Safety and Anti-tumor Activity of Avelumab in Combination with Talazoparib in Patients with a BRCA or ATM Mutation. This study is looking at the safety and effectiveness of the combination of an immunotherapy (known as Avelumab) and a PARP inhibitor (known as Talazoparib) is for treating patients with locally advanced or metastatic solid tumors who have an inherited mutation in ATM, BRCA1 or BRCA2.
- NCT03718091: M6620 (VX-970) in Selected Solid Tumors. This is a phase 2 study looking at M6620, a drug designed to inhibit the ATR enzyme. Inhibiting ATR may block how cancers repair their damaged DNA. The study is specifically enrolling patients with an inherited BRCA1, BRCA2 or ATM. The study is also enrolling people with a mutation in any of the following genes based on tumor testing: BRCA1, BRCA2, ATM BRCA1 or BRCA2, BARD1, BRIP1, CDK12, CHEK2, FANCA, FANCC, FANCE, FANCF, FANCM, MRE11A, NBN, PALB2, RAD51B, RAD51C, or RAD51D.
- NCT04171700: A Study to Evaluate Rucaparib in Patients With Solid Tumors and With Deleterious Mutations in HRR Genes (LODESTAR). This study is evaluating the response of rucaparib in patients with advanced cancers and with deleterious mutations (either inherited or found on tumor testing) in Homologous Recombination Repair (HRR) genes, including: BRCA1, BRCA2, PALB2, RAD51C, RAD51D, BARD1, BRIP1, FANCA, NBN, RAD51 or RAD51B.
- NCT03330847: Safety and Efficacy of Olaparib Combined with Agents Targeting DNA Damage Repair Compared to Olaparib Alone. The purpose of this study is to assess the efficacy and safety of treatment with the PARP inhibitor, olaparib combined with the drug Ceralasertib compared with olaparib alone for patients with Triple-Negative Breast Cancer.
- NCT03911973: Gedatolisib Plus Talazoparib in Advanced Triple Negative or BRCA1/2 Positive, HER2 Negative Breast Cancers. This study is designed to determine efficacy of gedatolisib in combination with talazoparib in advanced HER2-negative breast cancer that is triple negative or caused by a BRCA1/2 mutation.
- Breast Cancer Treatment in Women with PALB2 Mutations. The PALB2 Study is an international research study to better understand breast cancer treatment among women with a PALB2 gene mutation. Participants are asked to complete online or paper study questionnaires (every two years for 10 years) and share their family history, medical, and genetics records.
- NCT03344965: A Phase 2 Study of Olaparib Monotherapy in Metastatic Breast Cancer Patients with Germline or Somatic Mutations in DNA Repair Genes (Olaparib Expanded). This study is looking at how well olaparib works in people with metastatic breast cancer and any of the following mutations (either inherited or found on tumor testing) : ATM, ATR, BARD1, BRIP1 (FANCJ), CHEK2 , FANCA, FANCC, FANCD2, FANCE, FANCF, FANCM, MRE11A, NBN, PALB2, RAD50, RAD51C,
- NCT02401347: Talazoparib Beyond BRCA (TBB) Trial. People with an inherited mutation who have metastatic triple-negative breast cancer may qualify for this study. This study is looking at how well the PARP inhibitor talazoparib works in people with the following mutations (either inherited or found on tumor testing) : PTEN, PALB2, CHEK2, ATM, NBN, BARD1, BRIP1, RAD50, Rad51c, Rad51d, MRE11, ATR, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCL, plus other HR-related genes at the discretion of the primary investigators.