BRCA1

Breast Cancer

BRCA1 has many binding domains and thus involved with several complexes with

distinct functions

Steven A. Narod & William D. Foulkes, 2004

BRCA1 functions with multiple proteins

Kevin W. Caestecker, Gerlinde R. Van de Walle, 2012

BRCA1 as a DNA damage repair protein in homologous recombination

Lea M Starita, Jeffrey D Parvin, 2003

Homologous Recombination

http://www.sci.sdsu.edu/~smaloy/MicrobialGenetics/topics/genetic-analysis/recombination/rec-molecular.html

BRCA1-/- in mice causes embryonic lethality; growth retardation, apoptosis, cell cycle defects, and genomic instability

Razqallah Hakem et al, 1996

• 5-10% of total breast cancers have hereditary disposition

• Can have up to 80% risk of being diagnosed with breast cancer during lifetime if have mutation (as opposed to 12%)

Tumor formation is result of additional mutations that promote growth advantage

Deng CX 2002

BRCA1 mutations inherited autosomal dominant in pedigree

http://www.uvm.edu/~cgep/Education/Inheritance2.html

Targeted therapies target PARP enzyme

Joseph A. De Soto, Chu-Xia Deng 2006

Sources• Steven A. Narod & William D. Foulkes, 2004• Kevin W. Caestecker, Gerlinde R. Van de Walle, 2012• Razqallah Hakem et al, 1996• Deng CX, 2002• Joseph A. De Soto, Chu-Xia Deng, 2006• http://www.uvm.edu/~cgep/Education/Inheritance2.html• http://www.sci.sdsu.edu/~smaloy/MicrobialGenetics/topics/

genetic-analysis/recombination/rec-molecular.html