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. Autosomal dominant |
| 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: | 2022-11-02 |
| 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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