Evidence map›Paper›PMID 41218342›Full record

ArticleBreast (Edinburgh, Scotland)2025

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Niccolò Di Giosaffatte, Paola Daniele, Francesco Petrizzelli, Chiara Iacovino, Chiara Canciani, Maria Luisa Garau, Claudia Santoro, Valentina Trevisan, Arianna Panfili, Stefania Cavone and 29 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Breast (Edinburgh, Scotland), 2025. 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

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

39 authors.

Niccolò Di GiosaffatteMedical Genetics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Laboratory of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
Paola DanieleMedical Genetics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Francesco PetrizzelliLaboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Chiara IacovinoUnit of Dermatology, Department of Internal Medicine and Medical Specialties, 'La Sapienza' University of Rome, Rome, Italy.
Chiara CancianiClinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128, Padua, Italy.
Maria Luisa GarauClinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128, Padua, Italy.
Claudia SantoroDepartment of Women's and Children's Health and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via Luigi de Crecchio 2, 80138, Naples, Italy.
Valentina TrevisanCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
Arianna PanfiliCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
Stefania CavoneMedical Genetics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Valentina GuidaMedical Genetics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Maria Cecilia D'AsdiaMedical Genetics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Laura BernardiniMedical Genetics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Silvia MajoreLaboratory of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
Alessandro FerrarisLaboratory of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
Michele ValianteLaboratory of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
Francesca GensiniDepartment of Experimental and Clinical, Medical Genetics Unit, Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy.
Francesca Clementina RadioLaboratory of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
Giada TortoraMedical Genetic Unit, Azienda Ospedaliero-Universitaria delle Marche, 60126, Ancona, Italy.
Matteo CassinaClinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128, Padua, Italy.
Giuseppina MieleDepartment of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
Manuela PrioloOperative Unit of Medical Genetics and Laboratory of Genetics, AORN A Cardarelli, 80131, Naples, Italy.
Fabio SirchiaDepartment of Molecular Medicine, University of Pavia, Pavia, Italy; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy.
Ludovica PiccinnoDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, 00161, Italy.
Elisabetta FlexDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, 00161, Italy.
Giuseppe ZampinoCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
Maurizio GenuardiMedical Genetics Unit, Department of Laboratory and Infectious Science, Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.
Vincenzo NigroDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
Leonardo SalviatiClinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128, Padua, Italy.
Laura PapiDepartment of Experimental and Clinical, Medical Genetics Unit, Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy.
Paola GrammaticoLaboratory of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
Chiara LeoniCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
Giulio PilusoDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
Sandra GiustiniUnit of Dermatology, Department of Internal Medicine and Medical Specialties, 'La Sapienza' University of Rome, Rome, Italy.
Tommaso MazzaComputational Biology and Bioinformatics Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
Meena UpadhyayaDivision of Cancer and Genetics, Cardiff University, Cardiff, United Kingdom.
Marco TartagliaMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy. Electronic address: marco.tartaglia@opbg.net.
Eva TrevissonClinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128, Padua, Italy. Electronic address: eva.trevisson@unipd.it.
Alessandro De LucaMedical Genetics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. Electronic address: a.deluca@operapadrepio.it.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo investigate clinical and molecular features of neurofibromatosis type 1 (NF1)-associated breast cancer (BC) in a large multicenter cohort.

methodsClinical and histopathological data from 86 NF1 patients with BC (69 with molecular data) were collected, and 111 published cases were reviewed. NF1 variants were assessed in silico, and their distribution across neurofibromin domains was compared with the general NF1 population.

resultsNF1 patients developed BC earlier than the general population (mean 49 years), with missense variant heterozygotes showing the earliest onset (43.9 vs. 49.5 years for truncating variants, p = 0.014). Tumors were frequently high-grade (49 %), HER2-enriched (31 %) or luminal B subtypes (31 %), with reduced luminal A (28 %) frequency. NF1+BC patients had more subcutaneous (p = 0.006) and plexiform neurofibromas (p < 0.00001). Compared with the general NF1 population, they lacked large deletions (0 % vs. 3 %, p = 0.0148), showed enrichment for N-HEAT missense variants (70 % vs. 42 %; p = 0.0078), and carried recurrent variants significantly enriched in NF1+BC. Structural modeling predicted deleterious effects for >70 % of variants, with proline/arginine substitutions accounting for 83 % of missense variants (vs. 44 % in the general NF1 population, p = 0.0012).

conclusionsNF1-associated BC is characterized by earlier onset, aggressive tumor features, and distinct mutational patterns.

Indexed as

Breast NeoplasmsNeurofibromatosis 1Neurofibromin 1AdultAgedAge of OnsetErb-b2 Receptor Tyrosine KinasesFemaleHumansMiddle AgedMutation, MissenseErb-b2 Receptor Tyrosine KinasesNeurofibromin 1NF1 protein, humanBreast cancerCancer predispositionDominant negative effectGenotype-phenotype correlationNeurofibromatosis type 1NeurofibrominNF1Surveillance

Identifiers

PMID41218342
PMCPMC12648977

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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 OpenQuestion graph.