Variant: rs137852986 

    present in Gene: BRIP1
    present in Chromosome: 17
    Position on Chromosome: 61716051
    Alleles of this Variant: G/A

rs137852986 in BRIP1 gene and FANCONI ANEMIA, COMPLEMENTATION GROUP J PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

PMID 26921362 2016 No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.

PMID 27179029 2016 FANCJ is essential to maintain microsatellite structure genome-wide during replication stress.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 21964575 2011 Mutations in BRIP1 confer high risk of ovarian cancer.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 16116423 2005 The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

PMID 19127258 2009 A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 17033622 2006 Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.

PMID 16116424 2005 The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.

PMID 19763819 2010 Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort.

PMID 20639400 2010 Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.

PMID 29368626 2018 BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

PMID 26315354 2015 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

PMID 24240112 2014 Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

PMID 16153896 2005 BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.

PMID 26822949 2016 Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

rs137852986 in BRIP1 gene and Fanconi Anemia PMID 26968956 2016 Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.

PMID 16116424 2005 The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.

PMID 16116423 2005 The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

rs137852986 in BRIP1 gene and Neoplastic Syndromes, Hereditary PMID 17033622 2006 Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.

PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

PMID 21345144 2011 Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 19127258 2009 A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.

PMID 19763819 2010 Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort.

PMID 16116424 2005 The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.

PMID 16116423 2005 The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

PMID 16153896 2005 BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.

rs137852986 in BRIP1 gene and ovarian neoplasm PMID 16116423 2005 The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

PMID 21964575 2011 Mutations in BRIP1 confer high risk of ovarian cancer.

PMID 16153896 2005 BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.

PMID 19127258 2009 A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.

PMID 16116424 2005 The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

PMID 20639400 2010 Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.

PMID 26921362 2016 No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.

PMID 17033622 2006 Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 26315354 2015 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.