Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribers receive full online access to your subscription and archive of back issues up to and including 2002.
Content published before 2002 is available via pay-per-view purchase only.
Subscribe:
Subscribe to Clinics in Laboratory MedicineAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Inherited DNA-repair defects in colorectal cancer.Am J Hum Genet. 2018; 102: 401-414
- Prevalence of germline mutations in cancer susceptibility genes in patients with advanced renal cell carcinoma.JAMA Oncol. 2018; 4: 1228-1235
- Pathogenic germline variants in 10,389 adult cancers.Cell. 2018; 173: 355-370.e14
- Personalized genomic analyses for cancer mutation discovery and interpretation.Sci Transl Med. 2015; 7: 283ra53
- Patterns and functional implications of rare germline variants across 12 cancer types.Nat Commun. 2015; 6: 10086
- Mutation detection in patients with advanced cancer by universal sequencing of cancer-related genes in tumor and normal DNA vs guideline-based germline testing.JAMA. 2017; 318: 825-835
- Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.Ann Oncol. 2016; 27: 795-800
- Diagnostic yield of clinical tumor and germline whole-exome sequencing for children with solid tumors.JAMA Oncol. 2016; 2: 616-624
- Comparison of universal genetic testing vs guideline-directed targeted testing for patients with hereditary cancer syndrome.JAMA Oncol. 2021; 7: 230-237
- Therapeutic implications of germline testing in patients with advanced cancers.J Clin Oncol. 2021; 39: 2698-2709
- Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes.Am J Hum Genet. 2018; 103: 3-18
- Germline mutations in predisposition genes in pediatric cancer.N Engl J Med. 2015; 373: 2336-2346
- Hereditary cancer predisposition syndromes.J Clin Oncol. 2005; 23: 276-292
- Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland.N Engl J Med. 2000; 343: 78-85
- Realizing the promise of cancer predisposition genes.Nature. 2014; 505: 302-308
- Cancer genomics and inherited risk.J Clin Oncol. 2014; 32: 687-698
- American society of clinical oncology policy statement update: genetic and genomic testing for cancer susceptibility.J Clin Oncol. 2015; 33: 3660-3667
- Genetic predisposition to hematologic malignancies: management and surveillance.Blood. 2017; 130: 424-432
- Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutations.Eur J Cancer. 2018; 101: 254-262
- Cancer screening recommendations for individuals with Li-Fraumeni syndrome.Clin Cancer Res. 2017; 23: e38-e45
- A decade of clinical development of PARP inhibitors in perspective.Ann Oncol. 2019; 30: 1437-1447
- Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.Science. 2017; 357: 409-413
- Current microsatellite instability testing in management of colorectal cancer.Clin Colorectal Cancer. 2021; 20: e12-e20
- A practice guideline from the American College of medical genetics and genomics and the national society of genetic counselors: referral indications for cancer predisposition assessment.Genet Med. 2015; 17: 70-87
- NCCN guidelines insights: genetic/familial high-risk assessment: breast and ovarian, version 2.2017.J Natl Compr Canc Netw. 2017; 15: 9-20
- NCCN guidelines insights: genetic/familial high-risk assessment: colorectal, version 3.2017.J Natl Compr Canc Netw. 2017; 15: 1465-1475
- Germline genetic predisposition to hematologic malignancy.J Clin Oncol. 2017; 35: 1018-1028
- Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction.Cytogenet Genome Res. 2002; 98: 126-135
- The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews.Am J Hum Genet. 1999; 64: 963-970
- The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%.Nat Genet. 1996; 14: 188-190
- The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals.Nat Genet. 1995; 11: 198-200
- Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med. 2021; 23: 1399-1415
- Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med. 2020; 22: 453-461
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular Pathology.Genet Med. 2015; 17: 405-424
- Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.Hum Mutat. 2021; 42: 223-236
- Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.Hum Mutat. 2018; 39: 1553-1568
- Gene-specific criteria for PTEN variant curation: recommendations from the ClinGen PTEN expert panel.Hum Mutat. 2018; 39: 1581-1592
- How I curate: applying American society of Hematology-clinical Genome resource Myeloid malignancy variant curation expert panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.Haematologica. 2020; 105: 870-887
- ClinGen myeloid malignancy variant curation expert panel recommendations for germline RUNX1 variants.Blood Adv. 2019; 3: 2962-2979
- Discriminating somatic and germline mutations in tumor DNA samples without matching normals.Genome Res. 2015; 25: 1382-1390
- Somatic tumor variant filtration strategies to optimize tumor-only molecular profiling using targeted next-generation sequencing panels.J Mol Diagn. 2019; 21: 261-273
- Evaluating somatic tumor mutation detection without matched normal samples.Hum Genomics. 2017; 11: 22
- Evolving significance of tumor-normal sequencing in cancer care.Trends Cancer. 2020; 6: 31-39
- A global reference for human genetic variation.Nature. 2015; 526: 68-74
- The mutational constraint spectrum quantified from variation in 141,456 humans.Nature. 2020; 581: 434-443
- The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.Genome Med. 2016; 8: 79
- Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO precision medicine working group.Ann Oncol. 2019; 30: 1221-1231
- Identification of clonal hematopoiesis mutations in solid tumor patients undergoing Unpaired next-generation sequencing assays.Clin Cancer Res. 2018; 24: 5918-5924
- Prevalence of clonal hematopoiesis mutations in tumor-only clinical genomic profiling of solid tumors.JAMA Oncol. 2018; 4: 1589-1593
- Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing.Cancer Genet. 2019; 235-236: 31-38
- Somatic TP53 variants frequently confound germ-line testing results.Genet Med. 2018; 20: 809-816
- A genomic view of mosaicism and human disease.Nat Rev Genet. 2013; 14: 307-320
- Mosaicism in health and disease - clones picking up speed.Nat Rev Genet. 2017; 18: 128-142
- Therapy-related clonal hematopoiesis in patients with non-hematologic cancers is common and associated with adverse clinical outcomes.Cell Stem Cell. 2017; 21: 374-382.e4
- Age-related clonal hematopoiesis associated with adverse outcomes.N Engl J Med. 2014; 371: 2488-2498
- Misdiagnosis of Li-Fraumeni syndrome in a patient with clonal hematopoiesis and a somatic TP53 mutation.J Natl Compr Canc Netw. 2018; 16: 461-466
- Paired tumor-normal sequencing provides insights into TP53-related cancer spectrum in Li-Fraumeni patients.J Natl Cancer Inst. 2021; https://doi.org/10.1093/jnci/djab117
- Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients.Nat Med. 2017; 23: 703-713
- Genetic diversity of tumors with mismatch repair deficiency influences anti-PD-1 immunotherapy response.Science. 2019; 364: 485-491
- Portrait of a cancer: mutational signature analyses for cancer diagnostics.BMC Cancer. 2019; 19: 457
- Tumor mutational load predicts survival after immunotherapy across multiple cancer types.Nat Genet. 2019; 51: 202-206
- Integrated analysis of germline and tumor DNA identifies new candidate genes involved in familial colorectal cancer.Cancers (Basel). 2019; 11: 362
- Integrated analysis of germline and somatic variants in ovarian cancer.Nat Commun. 2014; 5: 3156
- Two genetic hits (more or less) to cancer.Nat Rev Cancer. 2001; 1: 157-162
Article info
Publication history
Published online: August 22, 2022
Identification
Copyright
© 2022 Elsevier Inc. All rights reserved.