Somatic variants of potential clinical significance in the tumors of BRCA phenocopies

scientific article published on 16 July 2019

Somatic variants of potential clinical significance in the tumors of BRCA phenocopies is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1186/S13053-019-0117-5
P932PMC publication ID6636136
P698PubMed publication ID31346352

P50authorLela BuckinghamQ92187292
P2093author name stringMark Maienschein-Cline
Lydia Usha
Melody Cobleigh
Rachel Mitchell
Jacob Rotmensch
Stefan Green
Kelly Burgess
Vincent Hong Hu
P2860cites workCan chimerism explain breast/ovarian cancers in BRCA non-carriers from BRCA-positive families?Q52586080
Role for the Werner syndrome protein in the promotion of tumor cell growth.Q53541570
Population-based study of risk of breast cancer in carriers of BRCA2 mutationQ57250754
Cancer Risk Estimates for BRCA1 Mutation Carriers Identified in a Risk Evaluation ProgramQ57903119
A common SNP in the UNG gene decreases ovarian cancer risk in BRCA2 mutation carriersQ64040629
BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative familiesQ84947430
Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillanceQ91972558
Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancersQ92036319
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriersQ21144874
PALB2 is an integral component of the BRCA complex required for homologous recombination repairQ24316113
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studiesQ24531993
The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case-control studyQ27644636
The Werner syndrome protein at the crossroads of DNA repair and apoptosisQ28279631
Characterization of BRCA1 and BRCA2 mutations in a large United States sampleQ28383993
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing dataQ29547161
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage ConsortiumQ29619206
The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi JewsQ29619407
MOSAIK: a hash-based algorithm for accurate next-generation sequencing short-read mappingQ31153287
Detection of BRCA1 and BRCA2 Ashkenazi Jewish founder mutations in formalin-fixed paraffin-embedded tissues using conventional PCR and heteroduplex/amplicon size differencesQ33555632
Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation CarriersQ33614244
Prepubertal start of father's smoking and increased body fat in his sons: further characterisation of paternal transgenerational responsesQ33856570
The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutationsQ33946674
SGO White Paper on ovarian cancer: etiology, screening and surveillanceQ34622294
Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: findings from the Breast Cancer Family RegistryQ35609710
Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium.Q35643852
Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopiesQ36281144
Prediction of breast cancer risk based on profiling with common genetic variantsQ36583004
Chimerism and tetragametic chimerism in humans: implications in autoimmunity, allorecognition and toleranceQ36960980
Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screeningQ37004478
Breast cancer risks in women with a family history of breast or ovarian cancer who have tested negative for a BRCA1 or BRCA2 mutationQ37081117
Toward better understanding of artifacts in variant calling from high-coverage samplesQ38224122
Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer.Q38966664
Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American PathologistsQ39043523
NUP98 Fusion Proteins Interact with the NSL and MLL1 Complexes to Drive Leukemogenesis.Q39152206
Phenocopies in breast cancer 1 (BRCA1) families: implications for genetic counsellingQ43232347
BRCA phenocopies or ascertainment bias?Q43232466
Do women remain at risk even if they do not inherit a familial BRCA1/2 mutation?Q44250031
Functional germline variants as potential co-oncogenesQ47159094
Targeting RET-driven cancers: lessons from evolving preclinical and clinical landscapesQ47601932
Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.Q49726725
DNA methylation in epigenetic inheritance of metabolic diseases through the male germ line.Q50083143
P304page(s)21
P577publication date2019-07-16
P1433published inHereditary Cancer in Clinical PracticeQ1843481
P1476titleSomatic variants of potential clinical significance in the tumors of BRCA phenocopies
P478volume17

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