Evidence map›Paper›PMID 39582020›Full record

ArticleNPJ genomic medicine2024

Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases.

Achille Vc Manirakiza, Shakuntala Baichoo, Annette Uwineza, Damas Dukundane, Francois Uwinkindi, Edouard Ngendahayo, Fidel Rubagumya, Emmanuel Muhawenimana, Nicaise Nsabimana, Innocent Nzeyimana and 17 more

Abstract read
In one paragraph

Article in NPJ genomic medicine, 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. 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

27 authors.

Achille Vc ManirakizaOncology Unit, Department of Medicine, King Faisal Hospital, Kigali, Rwanda. achille.manirakiza@kfhkigali.com.
Shakuntala BaichooDepartment of Digital Technologies, University of Mauritius, Réduit, Mauritius.ORCID http://orcid.org/0000-0002-9335-1939
Annette UwinezaCentre for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.ORCID http://orcid.org/0000-0003-1749-0395
Damas DukundaneOncology Unit, Department of Medicine, King Faisal Hospital, Kigali, Rwanda.
Francois UwinkindiRwanda Biomedical Center, Ministry of Health, Kigali, Rwanda.
Edouard NgendahayoUrology Unit, Department of Surgery, King Faisal Hospital, Kigali, Rwanda.
Fidel RubagumyaCollege of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.
Emmanuel MuhawenimanaKigali University Teaching Hospital, Kigali, Rwanda.ORCID http://orcid.org/0000-0002-3377-3208
Nicaise NsabimanaButaro Cancer Center of Excellence, Burera, Rwanda.
Innocent NzeyimanaButare University Teaching Hospital, Huye, Rwanda.ORCID http://orcid.org/0000-0002-3359-3338
Theoneste ManiragabaRwanda Biomedical Center, Ministry of Health, Kigali, Rwanda.
Faustin NtirenganyaCollege of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.
Ephrem RurangwaRwanda Military Referral and Teaching Hospital, Kigali, Rwanda.
Pacifique MugenziRwanda Cancer Center, Rwanda Military Hospital, Kigali, Rwanda.
Janviere MutamulizaRwanda Military Referral and Teaching Hospital, Kigali, Rwanda.
Daniel RunaniraNemba District Hospital, Gakenke, Rwanda.
Brandon A NiyibiziRwanda Cancer Relief, Kigali, Rwanda.ORCID http://orcid.org/0000-0003-4041-709X
Eulade RugengamanziButaro Cancer Center of Excellence, Burera, Rwanda.ORCID http://orcid.org/0000-0003-0385-3706
Jeffrey BesadaInvitae, Inc, San Francisco, CA, USA.
Sarah M NielsenInvitae, Inc, San Francisco, CA, USA.
Brianna BucknorInvitae, Inc, San Francisco, CA, USA.
Robert L NussbaumInvitae, Inc, San Francisco, CA, USA.
Diane KoellerDana Farber Cancer Institute, Boston, MA, USA.ORCID http://orcid.org/0000-0003-1217-9514
Caroline AndrewsDana Farber Cancer Institute, Boston, MA, USA.
Leon MutesaCentre for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.
Temidayo FadeluDana Farber Cancer Institute, Boston, MA, USA.
Timothy R RebbeckDana Farber Cancer Institute, Boston, MA, USA.

Funding

Precision Assessment and Delivery of Cancer Risks in BRCA 1/2 Mutation CancersR01CA207365 · NCI · DANA-FARBER CANCER INST · PI CHEN, JINBO, REBBECK, TIMOTHY R · 2017 to 2021
$3.6M
NCI NIH HHS R01 CA207365U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI) R01-CA207365
6 · The paper itself

Abstract

Cancer genetic data from Sub-Saharan African (SSA) are limited. Patients with female breast (fBC), male breast (mBC), and prostate cancer (PC) in Rwanda underwent germline genetic testing and counseling. Demographic and disease-specific information was collected. A multi-cancer gene panel was used to identify germline Pathogenic Variants (PV) and Variants of Uncertain Significance (VUS). 400 patients (201 with BC and 199 with PC) were consented and recruited to the study. Data was available for 342 patients: 180 with BC (175 women and 5 men) and 162 men with PC. PV were observed in 18.3% fBC, 4.3% PC, and 20% mBC. BRCA2 was the most common PV. Among non-PV carriers, 65% had ≥1 VUS: 31.8% in PC and 33.6% in BC (female and male). Our findings highlight the need for germline genetic testing and counseling in cancer management in SSA.

Identifiers

PMID39582020
PMCPMC11586404

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.