Evidence map›Paper›PMID 41006694›Full record

ArticlePigment cell & melanoma research2025

Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma-Breast Cancer Genotype-Phenotype Correlation.

Jennifer Berkman, Ellie J Maas, E DeBortoli, Clare A Primiero, H Peter Soyer, Aideen McInerney-Leo

Abstract read
In one paragraph

Article in Pigment cell & melanoma research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

6 authors.

Jennifer BerkmanFrazer Institute, The University of Queensland, Dermatology Research Centre, Brisbane, Queensland, Australia.
Ellie J MaasFrazer Institute, The University of Queensland, Dermatology Research Centre, Brisbane, Queensland, Australia.ORCID 0000-0002-1035-7279
E DeBortoliFrazer Institute, The University of Queensland, Dermatology Research Centre, Brisbane, Queensland, Australia.
Clare A PrimieroFrazer Institute, The University of Queensland, Dermatology Research Centre, Brisbane, Queensland, Australia.
H Peter SoyerFrazer Institute, The University of Queensland, Dermatology Research Centre, Brisbane, Queensland, Australia.ORCID 0000-0002-4770-561X
Aideen McInerney-LeoFrazer Institute, The University of Queensland, Dermatology Research Centre, Brisbane, Queensland, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study reports co-segregation of a pathogenic CDKN2A variant with both melanoma and breast cancer in a four-generation pedigree. Eighteen individuals were test positive (n = 10), obligate (n = 5) or assumed carriers (n = 3) of the CDKN2A variant. Eleven of these had multiple melanomas, with initial diagnoses from teens to fifties. Six of thirteen female carriers had breast cancer (n = 5 test positive, n = 1 assumed carrier), with diagnoses ranging from thirties to sixties. Additional cancer diagnoses included pancreatic, and head and neck cancers. This study illustrates a possible genotype-phenotype association between a pathogenic CDKN2A variant and the co-occurrence of melanoma and breast cancer in a hereditary context.

Indexed as

Breast NeoplasmsCyclin-Dependent Kinase Inhibitor p16Genetic Association StudiesGenetic Predisposition to DiseaseGerm-Line MutationMelanomaAdolescentAdultAgedFemaleHumansMaleMiddle AgedPedigreeYoung AdultCDKN2A protein, humanCyclin-Dependent Kinase Inhibitor p16breast cancerCDKN2Afamilialgermlinemelanoma

Identifiers

PMID41006694
PMCPMC12474564

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.