Condition: FANCONI ANEMIA, COMPLEMENTATION GROUP J


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.