Amish, Mennonite, and Hutterite
Genetic Disorder Database

Breast Cancer, BRCA2

Disorder
OMIM #: *600185  (Click to access OMIM database)
Disorder: Breast Cancer, BRCA2 
Also known as: FANCD1 GENE
FANCD1 
Clinical
Phenotype: Breast cancer, ovarian cancer, other malignancy 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Hutterite  
Gene: BRCA2
Base Change: del.T, at nucleotide 7671
Amino Acid Change:
2   Amish  
Gene: BRCA2
Base Change: ins.A, at nucleotide 5073
Amino Acid Change:
Last updated: 2019-07-03 

References
Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A 146A(8):1088-98.
PubMed ID: 18348266 
Personal communication; seen at CSC.  

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