Evidence map›Paper›PMID 31858328›Full record

ArticleFamilial cancer2020

De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer.

Rinat Bernstein Molho, Shelly Zalmanoviz, Yael Laitman, Eitan Friedman

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Familial cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
0.5field-weighted citation impact, top 26% 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

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. 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

4 authors at 2 institutions in 1 country.

Rinat Bernstein MolhoBreast cancer unit, Institute of Oncology, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
Shelly ZalmanovizThe Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
Yael LaitmanThe Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
Eitan FriedmanThe Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel. feitan@tauex.tau.ac.il.
Sheba Medical Center · ILTel Aviv University · IL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

De novo mutations in the major breast/ovarian cancer susceptibility genes BRCA1 and BRCA2 are rare. De novo mutations in the PALB2 gene have never been reported. Here we report a de novo PALB2 germ line mutation (c.3455delC (p.Pro1152Hisfs*11) in a patient with pancreatic cancer, where non-paternity and somatic parental mosaicism have to the extent possible been excluded as a mechanism for detecting the de novo mutation. The lack of previous reports on de novo PALB2 mutations maybe the limited number of PALB2germline mutations reported overall.

Indexed as

Germ-Line MutationFanconi Anemia Complementation Group N ProteinFemaleGenes, BRCA1Genes, BRCA2Genetic TestingHumansJewsMiddle AgedPancreatic NeoplasmsPedigreeFanconi Anemia Complementation Group N ProteinPALB2 protein, humande novo mutationInherited predisposition to cancerMosaicismPALB2 gene

Identifiers

PMID31858328
OpenAlexW2996178296

What OpenQuestion holds

Textmetadata
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.