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Gene profile

BRIP1

HGNC:20473 · SaudiVarKB evidence summary derived from retained literature mentions.

6Gene mentions
6Publications
1Linked variants
4Associated phenotypes

Associated phenotypes

Co-mentioned in BRIP1 publications
PhenotypeIdentifierArticlesMentions
breast cancer22
leukemia11
ovarian cancer11
colorectal cancer11

Linked variants

Variants normalized to BRIP1
VariantHGVS / rsIDArticlesMentions
p.Arg798*p.Arg798*11

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Saudi Arabia2,0151
Not specified2,0171
Saudi Arabia3101

Supporting publications

6 records
  1. 2023Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.GenesPubMed ↗
  2. 2023Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.OncotargetPubMed ↗
  3. 2022Low BRCA1 and BRCA2 Germline Mutation Rates in a French-Canadian Population with a Diagnosis of Epithelial Tubo-Ovarian Carcinoma.Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCPubMed ↗
  4. 2017Hematopoietic stem cell transplantation in FANCJ/BRIP1 fanconi anemia.Bone marrow transplantationPubMed ↗
  5. 2017Comprehensive molecular biomarker identification in breast cancer brain metastases.Journal of translational medicinePubMed ↗
  6. 2016Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.Cancer geneticsPubMed ↗