ArticleNPJ precision oncology2020
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
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Article in NPJ precision oncology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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47citing papers in PubMed
5.6field-weighted citation impact, top 3% of its field
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47 citing papers in PubMed, 86 citations in OpenAlex.
- The germline MLH1 c.2054 C>T mutation disrupts DNA mismatch repair and is detectable by digital PCR.Cancer letters · 2026Article
- Sequencing approaches in hereditary cancer testing: strengths, limitations and future directions.European journal of human genetics : EJHG · 2026Review
- Validation structures for sequence variants of uncertain significance in hereditary cancer.European journal of human genetics : EJHG · 2026Review
- Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification.Nature communications · 2026Article
- The actionable transcriptome: a framework for incorporating RNA sequencing into precision oncology.Nature reviews. Clinical oncology · 2026Review
- RNA-guided clarity: The potential for resolving variant uncertainty in clinical exome sequencing.Genetics in medicine open · 2026Article
- The role of chimeric FAM72B transcripts generated by intergenic mRNA trans-splicing in breast cancer.Functional & integrative genomics · 2025Article
- Long-read sequencing transcriptome quantification with lr-kallisto.PLoS computational biology · 2025Article
- Rewiring the transcriptome: diagnostic and therapeutic implications of alternative splicing in solid cancers.Molecular biology reports · 2025Review
- High-throughput screening of human genetic variants by pooled prime editing.Cell genomics · 2025Article
- Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC.NPJ genomic medicine · 2025Article
- Paired DNA/RNA testing uncovers a deep intronicFrontiers in oncology · 2025Article
- Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing.Genetics in medicine open · 2025Article
- In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome.BMC genomic data · 2024Article
- Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.American journal of human genetics · 2024Article
- Specifications of the ACMG/AMP variant curation guidelines for the analysis of germlinemedRxiv : the preprint server for health sciences · 2024Article
- Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing.JCO precision oncology · 2024Article
- Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing.JAMA oncology · 2024Article
- Benchmarking splice variant prediction algorithms using massively parallel splicing assays.Genome biology · 2023Article
- Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps.Journal of human genetics · 2023Article
Corrections and comments
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Authors and funding
53 authors at 19 institutions in 1 country.
Tyler Landrith *1Ambry Genetics, Aliso Viejo, CA USA.
Bing Li *1Ambry Genetics, Aliso Viejo, CA USA.
Ashley A Cass1Ambry Genetics, Aliso Viejo, CA USA.
Blair R Conner1Ambry Genetics, Aliso Viejo, CA USA.ORCID 0000-0002-6295-8375
Holly LaDuca1Ambry Genetics, Aliso Viejo, CA USA.
Danielle B McKenna2University of Pennsylvania, Philadelphia, PA USA.
Kara N Maxwell2University of Pennsylvania, Philadelphia, PA USA.
Susan Domchek2University of Pennsylvania, Philadelphia, PA USA.ORCID 0000-0002-5914-7272
Nichole A MormanOhioHealth Bing Cancer Center, Columbus, OH USA.ORCID 0000-0001-9710-0857
Christopher HeinlenOhioHealth Bing Cancer Center, Columbus, OH USA.
Deborah Wham4Aurora St. Luke's Medical Center, Milwaukee, WI USA.
Cathryn Koptiuch5Huntsman Cancer Institute, Salt Lake City, UT USA.
Jennie Vagher5Huntsman Cancer Institute, Salt Lake City, UT USA.
Ragene Rivera6Texas Oncology, El Paso, Fort Worth, and Austin, TX USA.
Ann Bunnell6Texas Oncology, El Paso, Fort Worth, and Austin, TX USA.
Gayle Patel6Texas Oncology, El Paso, Fort Worth, and Austin, TX USA.
Jennifer L Geurts7Medical College of Wisconsin, Milwaukee, WI USA.
Morgan M Depas7Medical College of Wisconsin, Milwaukee, WI USA.
Shraddha Gaonkar8Dana Farber Cancer Institute, Boston, MA USA.
Sara Pirzadeh-Miller9University of Texas Southwestern Medical Center, Dallas, TX USA.
Rebekah Krukenberg10Community Health Network, Indianapolis, IN USA.ORCID 0000-0001-9950-1961
Meredith Seidel11Massachusetts General Hospital, Boston, MA USA.
Robert Pilarski12Ohio State University Wexner Medical Center and James Comprehensive Cancer Center, Columbus, OH USA.
Meagan Farmer13University of Alabama at Birmingham, Birmingham, AL USA.
Khateriaa PyrtelAdvocate Health, Chicago, IL USA.
Kara Milliron15University of Michigan, Ann Arbor, MI USA.
John Lee16Cedars-Sinai Medical Center, Los Angeles, CA USA.ORCID 0000-0002-4905-3280
Elizabeth Hoodfar17Kaiser Permanente San Jose Medical Center, San Jose, CA USA.
Deepika Nathan18University of California at Irvine, Irvine, CA USA.
Amanda C Ganzak19Smilow Cancer Center, Yale New Haven Health, New Haven, CT USA.
Sitao Wu1Ambry Genetics, Aliso Viejo, CA USA.ORCID 0000-0002-4740-8885
Huy Vuong1Ambry Genetics, Aliso Viejo, CA USA.
Dong Xu1Ambry Genetics, Aliso Viejo, CA USA.
Aarani Arulmoli1Ambry Genetics, Aliso Viejo, CA USA.
Melissa Parra1Ambry Genetics, Aliso Viejo, CA USA.
Lily Hoang1Ambry Genetics, Aliso Viejo, CA USA.
Bhuvan Molparia1Ambry Genetics, Aliso Viejo, CA USA.
Michele Fennessy1Ambry Genetics, Aliso Viejo, CA USA.
Susanne Fox1Ambry Genetics, Aliso Viejo, CA USA.
Sinead Charpentier1Ambry Genetics, Aliso Viejo, CA USA.
Julia Burdette1Ambry Genetics, Aliso Viejo, CA USA.ORCID 0000-0003-0745-4948
Tina Pesaran1Ambry Genetics, Aliso Viejo, CA USA.ORCID 0000-0001-9807-4304
Jessica Profato1Ambry Genetics, Aliso Viejo, CA USA.
Brandon Smith1Ambry Genetics, Aliso Viejo, CA USA.
Ginger Haynes1Ambry Genetics, Aliso Viejo, CA USA.
Emily Dalton1Ambry Genetics, Aliso Viejo, CA USA.
Joy Rae-Radecki Crandall1Ambry Genetics, Aliso Viejo, CA USA.
Ruth Baxter1Ambry Genetics, Aliso Viejo, CA USA.
Hsiao-Mei Lu1Ambry Genetics, Aliso Viejo, CA USA.
Brigette Tippin-Davis1Ambry Genetics, Aliso Viejo, CA USA.
Aaron Elliott1Ambry Genetics, Aliso Viejo, CA USA.
Elizabeth Chao1Ambry Genetics, Aliso Viejo, CA USA.
Rachid Karam1Ambry Genetics, Aliso Viejo, CA USA.ORCID 0000-0002-5645-498X
Ambry Genetics (United States) · USTexas Oncology · USUniversity of Pennsylvania · USHuntsman Cancer Institute · USMedical College of Wisconsin · USOhioHealth · USUniversity of California, Irvine · USAdvocate Health Care · USAurora St. Luke's Medical Center · USCedars-Sinai Medical Center · USDana-Farber Cancer Institute · USHealth Net · USKaiser Permanente San Jose Medical Center · USMassachusetts General Hospital · USSmilow Cancer Hospital · USThe Ohio State University Wexner Medical Center · USThe University of Texas Southwestern Medical Center · USUniversity of Alabama at Birmingham · USUniversity of Michigan · US
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patients with suspected hereditary cancer syndromes remaining without a molecular diagnosis. To address this, we used capture RNA-sequencing (RNA-seq) to generate a splicing profile of 18 TSGs (
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