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Gene | BRIP1 |
Variant | T997fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRIP1 T997fs results in a change in the amino acid sequence of the Brip1 protein beginning at aa 997 of 1249, likely resulting in premature truncation of the functional protein (UniProt.org). T997fs has not been characterized, however, due to the effects of other truncation mutations downstream of T997 (PMID: 18628483), is predicted to result in a loss of Brip1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 inact mut BRIP1 T997fs |
Transcript | NM_032043.3 |
gDNA | chr17:g.(61684057_61684058) |
cDNA | c.(2989_2988) |
Protein | p.T997fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011525335.4 | chr17:g.(61684057_61684058) | c.(2989_2988) | p.T997fs | RefSeq | GRCh38/hg38 |
XM_047436892.1 | chr17:g.(61684057_61684058) | c.(2989_2988) | p.T997fs | RefSeq | GRCh38/hg38 |
XM_011525335.3 | chr17:g.(61684057_61684058) | c.(2989_2988) | p.T997fs | RefSeq | GRCh38/hg38 |
NM_032043.2 | chr17:g.(61684057_61684058) | c.(2989_2988) | p.T997fs | RefSeq | GRCh38/hg38 |
XM_047436891.1 | chr17:g.(61684057_61684058) | c.(2989_2988) | p.T997fs | RefSeq | GRCh38/hg38 |
NM_032043.3 | chr17:g.(61684057_61684058) | c.(2989_2988) | p.T997fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRIP1 T997fs | breast lobular carcinoma | predicted - sensitive | Olaparib | Case Reports/Case Series | Actionable | In a clinical case study, Lynparza (olaparib) treatment resulted in a sustained metabolic response and a decrease in the cancer antigen markers CA 27-29 and CA 15-3 after 8 months in a patient with recurrent ER/PR-positive, ERBB2 (HER2)-negative invasive lobular breast carcinoma harboring a germline BRIP1 T997fs, who remained on treatment (PMID: 36813328). | 36813328 |