BARD1nonsense variant c.1921C>T in a patient with recurrent breast cancer.
One of the strongest risk factors predisposing patients to breast cancer is a positive family history. In our study, we describe a patient diagnosed with multiple breast cancer tumors. Genetic analysis revealed a pathogenic variant inBARD1, which is associated with an increased risk of developing certain types of cancer.
Center for Individualized Medicine Mayo Clinic 4500 San Pablo Road South Jacksonville Florida 32224 USA.
Jennifer
0000-0001-8189-4189
J
Gass
Center for Individualized Medicine Mayo Clinic 4500 San Pablo Road South Jacksonville Florida 32224 USA.
Madeline
M
Tatro
Center for Individualized Medicine Mayo Clinic 4500 San Pablo Road South Jacksonville Florida 32224 USA.
Patrick
0000-0003-0658-1275
P
Blackburn
Department of Medicine Division of Diagnostic & Consultative Medicine Mayo Clinic 4500 San Pablo Road South Jacksonville Florida 32224 USA.
Stephanie
S
Hines
Center for Individualized Medicine Mayo Clinic 4500 San Pablo Road South Jacksonville Florida 32224 USA; Department of Clinical Genomics Mayo Clinic 4500 San Pablo Road South Jacksonville Florida 32224 USA.
Paldeep S
0000-0002-8515-744X
PS
Atwal
BARD1; BRCA1; breast cancer; genetic testing; tumor suppressor