Evidence map›Paper›PMID 28281021›Full record

ArticleBreast cancer research and treatment2017

Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

Beth Crawford, Sophie B Adams, Taylor Sittler, Jeroen van den Akker, Salina Chan, Ofri Leitner, Lauren Ryan, Elad Gil, Laura van 't Veer

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Breast cancer research and treatment, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
47citing papers in PubMed, 2 pooled it
9.9field-weighted citation impact, top 2% 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

47 citing papers in PubMed, 2 syntheses or guidelines pooled it, 82 citations in OpenAlex.

  1. Summary ofGenes · 2020
    Pooled it
  2. Pooled it
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  4. Article
  5. ComprehensiveFrontiers in cell and developmental biology · 2026
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  17. Response to Rucaparib in BRCA-Mutant Metastatic Castration-Resistant Prostate Cancer Identified by Genomic Testing in the TRITON2 Study.Clinical cancer research : an official journal of the American Association for Cancer Research · 2021
    Article
  18. Double Heterozygous Mutations in theBreast care (Basel, Switzerland) · 2021
    Article
  19. Article
  20. 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

9 authors at 4 institutions in 1 country.

Beth CrawfordUniversity of California San Francisco, Helen Diller Family Comprehensive Cancer Center, 2340 Sutter Street, San Francisco, CA, 94115, USA.
Sophie B AdamsUniversity of California San Francisco, Helen Diller Family Comprehensive Cancer Center, 2340 Sutter Street, San Francisco, CA, 94115, USA.
Taylor SittlerUniversity of California San Francisco, Helen Diller Family Comprehensive Cancer Center, 2340 Sutter Street, San Francisco, CA, 94115, USA.
Jeroen van den AkkerColor Genomics, 128 Murchison Drive, Burlingame, CA, 94010, USA.
Salina ChanUniversity of California San Francisco, Helen Diller Family Comprehensive Cancer Center, 2340 Sutter Street, San Francisco, CA, 94115, USA.
Ofri LeitnerSkypax LLC, 112 Timberlyne Court, Chapel Hill, NC, USA.
Lauren RyanUniversity of California San Francisco, Helen Diller Family Comprehensive Cancer Center, 2340 Sutter Street, San Francisco, CA, 94115, USA.
Elad GilColor Genomics, 128 Murchison Drive, Burlingame, CA, 94010, USA.
Laura van 't VeerUniversity of California San Francisco, Helen Diller Family Comprehensive Cancer Center, 2340 Sutter Street, San Francisco, CA, 94115, USA. laura.vantveer@ucsf.edu.
University of California, San Francisco · USColor (United States) · USLucile Packard Children's Hospital · USSkyworks Solutions (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeMany women with an elevated risk of hereditary breast and ovarian cancer have previously tested negative for pathogenic mutations in BRCA1 and BRCA2. Among them, a subset has hereditary susceptibility to cancer and requires further testing. We sought to identify specific groups who remain at high risk and evaluate whether they should be offered multi-gene panel testing.

methodsWe tested 300 women on a multi-gene panel who were previously enrolled in a long-term study at UCSF. As part of their long-term care, all previously tested negative for mutations in BRCA1 and BRCA2 either by limited or comprehensive sequencing. Additionally, they met one of the following criteria: (i) personal history of bilateral breast cancer, (ii) personal history of breast cancer and a first or second degree relative with ovarian cancer, and (iii) personal history of ovarian, fallopian tube, or peritoneal carcinoma.

resultsAcross the three groups, 26 women (9%) had a total of 28 pathogenic mutations associated with hereditary cancer susceptibility, and 23 women (8%) had mutations in genes other than BRCA1 and BRCA2. Ashkenazi Jewish and Hispanic women had elevated pathogenic mutation rates. In addition, two women harbored pathogenic mutations in more than one hereditary predisposition gene.

conclusionsAmong women at high risk of breast and ovarian cancer who have previously tested negative for pathogenic BRCA1 and BRCA2 mutations, we identified three groups of women who should be considered for subsequent multi-gene panel testing. The identification of women with multiple pathogenic mutations has important implications for family testing.

Indexed as

AdultAgedAged, 80 and overBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCheckpoint Kinase 2DNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseGenetic TestingHumansMiddle AgedMutation, MissenseOvarian NeoplasmsRisk FactorsBARD1 protein, humanBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanCheckpoint Kinase 2CHEK2 protein, humanTumor Suppressor ProteinsUbiquitin-Protein LigasesBRCA1BRCA2Breast cancerHereditary cancerOvarian cancerPanel testing

Identifiers

PMID28281021
PMCPMC5410210
OpenAlexW2593868561

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.