BRIP1 T997fs
Gene Variant Detail

Request Content

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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 lead to a loss of Brip1 protein function.
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 inact mut BRIP1 T997fs

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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_011525335.3 chr17:g.(61684057_61684058) c.(2989_2988) p.T997fs RefSeq GRCh38/hg38
XM_011525335.4 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
XM_047436891.1 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
NM_032043.2 chr17:g.(61684057_61684058) c.(2989_2988) p.T997fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRIP1 inact mut prostate cancer sensitive Olaparib FDA approved - On Companion Diagnostic Actionable In a Phase III trial (PROfound) that supported FDA approval, Lynparza (olaparib) treatment significantly improved median imaging-based progression-free survival (5.8 vs 3.5 mo, HR 0.49, p<0.001) compared to control in patients with metastatic castration-resistant prostate cancer who progressed on hormone therapy and harbored deleterious or suspected deleterious mutations in homologous recombination repair genes, including BRIP1 (PMID: 32343890; NCT02987543). detail... 32343890 detail...
BRIP1 inact mut prostate cancer sensitive Olaparib Guideline Actionable Lynparza (olaparib) is included in guidelines as second-line therapy post androgen receptor-directed therapy for patients with metastatic castration-resistant prostate cancer harboring pathogenic mutations in BRIP1 (NCCN.org). detail...
BRIP1 inact mut prostate cancer predicted - sensitive Rucaparib Case Reports/Case Series Actionable In a Phase II trial (TRITON2), 1 of 2 patients with metastatic castrate-resistant prostate cancer harboring deleterious BRIP1 alterations demonstrated a PSA response and partial radiographic response after treatment with Rubraca (rucaparib), which were ongoing at the time of visit cutoff (PMID: 32086346; NCT02952534). 32086346
BRIP1 inact mut prostate cancer predicted - sensitive Abiraterone + Niraparib + Prednisone Phase III Actionable In a Phase III trial (MAGNITUDE), Zejula (niraparib) in combination with Zytiga (abiraterone) and Adasone (prednisone) (AAP) improved radiographic progression-free survival (HR 0.59) compared to placebo and AAP in patients with metastatic castration-resistant prostate cancer harboring inactivating mutations in the homologous recombination repair (HRR)-Fanconi pathway (BRIP1, FANCA, PALB2), with a HR of 0.23 in patients with BRIP1 mutations (J Clin Oncol 40, no. 16_suppl (June 01, 2022) 5020; NCT03748641). detail...
BRIP1 mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline BRIP1 mutations are associated with increased risk of developing ovarian cancer (NCCN.org). detail...