Evidence map›Paper›PMID 38854136›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline

Marcy E Richardson, Megan Holdren, Terra Brannan, Miguel de la Hoya, Amanda B Spurdle, Sean V Tavtigian, Colin C Young, Lauren Zec, Susan Hiraki, Michael J Anderson and 11 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

21 authors.

Marcy E RichardsonAmbry Genetics, Aliso Viejo, CA, USA.
Megan HoldrenDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Terra BrannanAmbry Genetics, Aliso Viejo, CA, USA.
Miguel de la HoyaMolecular Oncology Laboratory, Hospital Clínico San Carlos, IdISSC, 28040 Madrid, Spain.
Amanda B SpurdlePopulation Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Sean V TavtigianDepartment of Oncological Sciences and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA.
Colin C YoungAmbry Genetics, Aliso Viejo, CA, USA.
Lauren ZecNatera, Inc, San Carlos, CA, USA.
Susan HirakiGeneDx, Gaithersburg, MD, USA.
Michael J AndersonInvitae Corporation, San Francisco, CA, USA.
Logan C WalkerDepartment of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
Shannon McNultyDepartment of Pathology and Laboratory Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Clare TurnbullDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Marc TischkowitzDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Katherine SchonDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Thomas SlavinCity of Hope Comprehensive Cancer Center, Duarte, CA, USA.
William D FoulkesDepartments of Human Genetics, McGill University, Montreal, Quebec, Canada.
Melissa ClineUC Santa Cruz Genomics Institute, Mail Stop: Genomics, University of California, Santa Cruz, CA, USA.
Alvaro N MonteiroDepartment of Cancer Epidemiology, H Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA.
Tina PesaranAmbry Genetics, Aliso Viejo, CA, USA.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

Funding

The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2005 to 2026
$49.9M
Resolving the cancer relevance of predisposition gene mutationsR35CA253187 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2020 to 2026
$5.8M
Curation Expert Panels for BRCA1/2 and Hereditary Breast, Ovarian and Pancreatic (HBOP) Cancer GenesU24CA258058 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2022 to 2026
$1.3M
NCI NIH HHS P50 CA116201NCI NIH HHS R35 CA253187NCI NIH HHS U24 CA258058
6 · The paper itself

Abstract

The ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer (HBOP) Variant Curation Expert Panel (VCEP) is composed of internationally recognized experts in clinical genetics, molecular biology and variant interpretation. This VCEP made specifications for ACMG/AMP guidelines for the ataxia telangiectasia mutated (

Identifiers

PMID38854136
PMCPMC11160822

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.