Evidence mapPaperPMID 36901733Full record

ArticleInternational journal of molecular sciences2023

Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.

Irene Vanni, Lorenza Pastorino, Enrica Teresa Tanda, Virginia Andreotti, Bruna Dalmasso, Nicola Solari, Matteo Mascherini, Francesco Cabiddu, Antonio Guadagno, Simona Coco and 11 more

Open access · goldFull text read
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
6.0field-weighted citation impact, top 3% of its field
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

3 citing papers in PubMed, 11 citations in OpenAlex.

  1. Review
  2. Assessing Determinants of Response to PARP Inhibition in GermlineInternational journal of molecular sciences · 2025
    Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors at 3 institutions in 1 country.

Irene VanniGenetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.
Lorenza PastorinoGenetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.ORCID 0000-0002-2575-8331
Enrica Teresa TandaDepartment of Internal Medicine and Medical Specialties (DiMI), University of Genoa, 16132 Genoa, Italy.
Virginia AndreottiGenetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.ORCID 0000-0002-2569-0832
Bruna DalmassoGenetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.ORCID 0000-0002-1534-0521
Nicola SolariSurgical Oncology, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.
Matteo MascheriniSurgical Clinic Unit 1, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.
Francesco CabidduAnatomic Pathology Unit, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.
Antonio GuadagnoAnatomic Pathology Unit, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.
Simona CocoLung Cancer Unit, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.ORCID 0000-0002-5296-4325
Eleonora AllavenaDepartment of Internal Medicine and Medical Specialties (DiMI), University of Genoa, 16132 Genoa, Italy.ORCID 0000-0001-9214-4279
William BrunoGenetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.ORCID 0000-0002-0337-0168
Gabriella PietraIRCCS Ospedale Policlinico San Martino, U.O. Immunologia, 16132 Genoa, Italy.
Michela CroceBioterapie, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.ORCID 0000-0003-4683-4951
Rosaria GangemiBioterapie, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.
Michele PianaDipartimento di Matematica (MIDA), University of Genoa, 16132 Genoa, Italy.
Gabriele ZoppoliDepartment of Internal Medicine and Medical Specialties (DiMI), University of Genoa, 16132 Genoa, Italy.ORCID 0000-0002-1619-1708
Lorenzo FerrandoDepartment of Internal Medicine and Medical Specialties (DiMI), University of Genoa, 16132 Genoa, Italy.
Francesco SpagnoloMedical Oncology 2, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.
Paola QueiroloMelanoma, Sarcoma & Rare Tumors Division, European Institute of Oncology (IEO), 20141 Milan, Italy.
Paola GhiorzoGenetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy.ORCID 0000-0002-3651-8173
Ospedale Policlinico San Martino · ITEuropean Institute of Oncology · ITUniversity of Genoa · IT

Funding

Alleanza Contro il Cancro Alliance Against Cancer to IRCCS Ospedale Policlinico San MartinoMinistero della Salute 5x1000 funds 2019-2020 to IRCCS Ospedale Policlinico San MartinoMinistero della Salute RF-2016-02362288Ministero della Salute Ricerca Corrente 2020-2021 to IRCCS Ospedale Policlinico San Martino
6 · The paper itself

Abstract

Although several studies have explored the molecular landscape of metastatic melanoma, the genetic determinants of therapy resistance are still largely unknown. Here, we aimed to determine the contribution of whole-exome sequencing and circulating free DNA (cfDNA) analysis in predicting response to therapy in a consecutive real-world cohort of 36 patients, undergoing fresh tissue biopsy and followed during treatment. Although the underpowered sample size limited statistical analysis, samples from non-responders had higher copy number variations and mutations in melanoma driver genes compared to responders in the

Indexed as

Cell-Free Nucleic AcidsMelanomaDNA Copy Number VariationsExome SequencingHumansMutationProto-Oncogene Proteins B-rafCell-Free Nucleic AcidsProto-Oncogene Proteins B-rafBRAF V600circulating free DNAgermline pathogenic variantsimmunotherapyloss of heterozygositymelanomatargeted therapytumor mutational burdentumor ploidywhole-exome sequencing

Identifiers

PMID36901733
PMCPMC10002464
OpenAlexW4321497129

What Socratic holds

Textfull text, public
LicenceCC BY
measurements read74
Read underepoch 390

Registered trials

None linked

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 Socratic graph.