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ASSOCIATION FOR MOLECULAR PATHOLOGY v. 
MYRIAD GENETICS, INC.
 
Opinion of the Court 

gether.  Large changes, involving the deletion, rearrange-
ment,  or  duplication  of  hundreds  or  even  millions  of  nu-
cleotides,  can  result  in  the  elimination,  misplacement,  or 
duplication of entire genes.  Some mutations are harmless, 
but  others  can  cause  disease  or  increase  the  risk  of  dis-
ease.  As  a  result,  the  study  of  genetics  can  lead  to  valu- 
able medical breakthroughs. 

B 
This case involves patents filed by Myriad after it made 
one  such  medical  breakthrough.    Myriad  discovered  the
precise  location  and  sequence  of  what  are  now  known  as 
the  BRCA1  and  BRCA2  genes.    Mutations  in these  genes 
can  dramatically  increase  an  individual’s  risk  of  develop-
ing  breast  and  ovarian  cancer.    The  average  American
woman  has  a  12-  to  13-percent  risk  of  developing  breast
cancer, but for women with certain genetic mutations, the 
risk can range between 50 and 80 percent for breast can-
cer  and  between  20  and  50  percent  for  ovarian  cancer.
Before  Myriad’s  discovery  of  the  BRCA1  and  BRCA2
genes, scientists knew that heredity played a role in estab-
lishing  a  woman’s  risk  of  developing  breast  and  ovarian
cancer, but they did not know which genes were associated 
with those cancers. 

Myriad  identified  the  exact  location  of  the  BRCA1  and
BRCA2  genes  on  chromosomes  17  and  13.  Chromosome 
17  has  approximately  80  million  nucleotides,  and  chro- 
mosome  13  has  approximately  114  million.  Association 
for Molecular Pathology v.  United States Patent and Trade-
mark Office, 689 F. 3d 1303, 1328 (CA Fed. 2012).  Within 
those  chromosomes,  the  BRCA1  and  BRCA2  genes  are 
each  about  80,000  nucleotides  long.    If  just  exons  are 
counted,  the  BRCA1  gene  is  only  about  5,500  nucleotides 
long;  for  the  BRCA2  gene,  that  number  is  about  10,200. 
Ibid.  Knowledge of the location of the BRCA1 and BRCA2
genes allowed Myriad to determine their typical nucleotide