Xcode Life

Gene: BRIP1

Alternate names for this Gene: BACH1|FANCJ|OF

Gene Summary: The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations.

Gene is located in Chromosome: 17

Location in Chromosome : 17q23.2

Description of this Gene: BRCA1 interacting protein C-terminal helicase 1

Type of Gene: protein-coding

rs1057519365 in BRIP1 gene and Colorectal Carcinoma

PMID 27165003 2016 The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

rs1057519365 in BRIP1 gene and FANCONI ANEMIA, COMPLEMENTATION GROUP J

PMID 27165003 2016 The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

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

PMID 25058500 2015 Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.

PMID 21127055 2011 Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control.

PMID 20159562 2010 BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control.

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

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

PMID 28961279 2017 The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

PMID 18628483 2008 A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

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

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

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 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.

PMID 24448499 2014 Integrated analysis of germline and somatic variants in ovarian cancer.

PMID 27107905 2016 Mutational analysis of FANCJ helicase.

PMID 16973432 2006 The DNA repair helicases XPD and FancJ have essential iron-sulfur domains.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 28495237 2017 Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 26689913 2015 Patterns and functional implications of rare germline variants across 12 cancer types.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 26556299 2016 Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

PMID 22792074 2012 FANCJ/BACH1 acetylation at lysine 1249 regulates the DNA damage response.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 26681682 2016 Genetic testing in a cohort of young patients with HER2-amplified breast cancer.

PMID 20616022 2010 Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.

PMID 16280053 2005 Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 26824983 2016 Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

PMID 27701467 2016 Germline Variants of Prostate Cancer in Japanese Families.

PMID 27498913 2016 Monogenic and polygenic determinants of sarcoma risk: an international genetic study.

PMID 27462233 2016 Understanding the Significance of Mutations in Tumor Suppressor Genes Identified Using Next-Generation Sequencing: A Case Report.

PMID 28423363 2017 Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.

PMID 27443514 2016 Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.

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.

rs6504074 in BRIP1 gene and Finding of Mean Corpuscular Hemoglobin

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs587781321 in BRIP1 gene and Hereditary Breast and Ovarian Cancer Syndrome

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

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

PMID 24448499 2014 Integrated analysis of germline and somatic variants in ovarian cancer.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 29625052 2018 Pathogenic Germline Variants in 10,389 Adult Cancers.

PMID 30130155 2018 Inherited Breast Cancer in Nigerian Women.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 30728895 2019 The effects of genomic germline variant reclassification on clinical cancer care.

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

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

PMID 25646469 2015 Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells.

rs1057519365 in BRIP1 gene and Malignant neoplasm of breast

PMID 25058500 2015 Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.

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

PMID 21127055 2011 Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control.

PMID 20159562 2010 BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control.

PMID 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

PMID 18628483 2008 A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

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

PMID 11301010 2001 BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.

PMID 24366402 2014 Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.

PMID 17508274 2007 Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.

PMID 14983014 2004 The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations.

PMID 24366376 2014 Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 18163131 2008 The emerging landscape of breast cancer susceptibility.

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

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

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

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

PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PMID 28709830 2017 Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2.

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

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

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

PMID 20616022 2010 Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.

PMID 16280053 2005 Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.

PMID 26824983 2016 Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

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

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

rs12937080 in BRIP1 gene and Malignant neoplasm of ovary

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

rs1057519365 in BRIP1 gene and Neoplastic Syndromes, Hereditary

PMID 27165003 2016 The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

PMID 25058500 2015 Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.

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

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.

PMID 24895130 2014 Novel function of the Fanconi anemia group J or RECQ1 helicase to disrupt protein-DNA complexes in a replication protein A-stimulated manner.

PMID 25583461 2015 Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability.

PMID 24448499 2014 Integrated analysis of germline and somatic variants in ovarian cancer.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 26790966 2016 Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer.

PMID 27107905 2016 Mutational analysis of FANCJ helicase.

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 16973432 2006 The DNA repair helicases XPD and FancJ have essential iron-sulfur domains.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

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

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

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

PMID 21409391 2011 BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 26296696 2015 Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening.

PMID 28709830 2017 Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 15285897 2004 Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

PMID 19339519 2009 Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 20346647 2010 Discovering moderate-risk breast cancer susceptibility genes.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 28495237 2017 Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 22792074 2012 FANCJ/BACH1 acetylation at lysine 1249 regulates the DNA damage response.

PMID 20159562 2010 BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control.

PMID 21127055 2011 Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control.

PMID 24573678 2014 Insight into the roles of helicase motif Ia by characterizing Fanconi anemia group J protein (FANCJ) patient mutations.

PMID 27193682 2016 Near-atomic resolution visualization of human transcription promoter opening.

PMID 27427815 2016 Fanconi anemia in 55-year-old identical twins first presenting as fatal post-chemotherapy pancytopenia.

PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

PMID 22692731 2012 Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.

PMID 20168331 2010 Structural basis for the function of DEAH helicases.

PMID 20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 18628483 2008 A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

PMID 26824983 2016 Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

PMID 27701467 2016 Germline Variants of Prostate Cancer in Japanese Families.

PMID 26911350 2016 Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.

PMID 27462233 2016 Understanding the Significance of Mutations in Tumor Suppressor Genes Identified Using Next-Generation Sequencing: A Case Report.

PMID 20616022 2010 Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.

PMID 28423363 2017 Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.

rs4988344 in BRIP1 gene and Red Blood Cell Count measurement

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1057519365 in BRIP1 gene and ovarian neoplasm

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

PMID 27165003 2016 The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

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.

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.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

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

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 28495237 2017 Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 26689913 2015 Patterns and functional implications of rare germline variants across 12 cancer types.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 20159562 2010 BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control.

PMID 22792074 2012 FANCJ/BACH1 acetylation at lysine 1249 regulates the DNA damage response.

PMID 21127055 2011 Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 26681682 2016 Genetic testing in a cohort of young patients with HER2-amplified breast cancer.

PMID 18628483 2008 A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

PMID 27498913 2016 Monogenic and polygenic determinants of sarcoma risk: an international genetic study.

PMID 28423363 2017 Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.

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

PMID 27443514 2016 Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.