Evidence map›Paper›PMID 39445568›Full record

ArticleJournal of genetics2024

Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants.

Shristi Biswas, Swati Manekar, Shehnaz Kantharia, Sonal Bakshi

Abstract readCase Reports
PubMed
In one paragraph

Article in Journal of genetics, 2024. 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. Review
  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

4 authors.

Shristi BiswasInstitute of Science, Nirma University, SG Highway, Ahmedabad 382 481, India. sonal.bakshi@nirmauni.ac.in.
Swati Manekar
Shehnaz Kantharia
Sonal Bakshi

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cancer is a multifactorial, multi-step process of pathogenesis; however, in the case of familial cancers, genetic aetiology can play a significant role. Identifying genetic variants in cancer patients having a strong family history of cancer as well as their unaffected blood relatives can unravel their role in predisposition to cancer. Here, we report the findings of whole-exome sequencing in a patient (77/F) diagnosed with ovarian cancer and her daughters (61/F) and (59/F) who were diagnosed with breast and ovarian cancers along with her asymptomatic son (53/M). All the four family members show segregation of

Indexed as

DNA-Binding ProteinsHereditary Breast and Ovarian Cancer SyndromeAgedExome SequencingFemaleGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedPedigreeDNA-Binding ProteinsRAD51D protein, human

Identifiers

PMID39445568

What OpenQuestion holds

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Read underepoch 390

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.