BRCA phenocopies or ascertainment bias?

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.

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.

Who cites it

10 citing papers in PubMed, 2 syntheses or guidelines pooled it.

1. Adjusting for Ascertainment Bias in Meta-Analysis of Penetrance for Cancer Risk.Statistics in medicine · 2025
   Pooled it
2. Evidence for penetrance in patients without a family history of disease: a systematic review.European journal of human genetics : EJHG · 2020
   Pooled it
3. Influence of family history on penetrance of hereditary cancers in a population setting.EClinicalMedicine · 2023
   Article
4. Phenocopy in a patient with triple negative breast cancer: a case report.Einstein (Sao Paulo, Brazil) · 2023
   Article
5. Somatic variants of potential clinical significance in the tumors ofHereditary cancer in clinical practice · 2019
   Article
6. Can chimerism explain breast/ovarian cancers in BRCA non-carriers from BRCA-positive families?PloS one · 2018
   Article
7. No evidence of increased breast cancer risk for proven noncarriers from BRCA1 and BRCA2 families.Familial cancer · 2016
   Article
8. High incidence of germline BRCA mutation in patients with ER low-positive/PR low-positive/HER-2 neu negative tumors.Cancer · 2015
   Article
9. Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.Human molecular genetics · 2012
   Article
10. Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: findings from the Breast Cancer Family Registry.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2011
    Article

Corrections and comments

• Comment on
  Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening.2007

Authors and funding

4 authors.

Funding

No grant is acknowledged in the PubMed record.

Abstract

PubMed holds no abstract for this paper.

Indexed as