Evidence map›Paper›PMID 37084156›Full record

ArticleBreast cancer research and treatment2023

The association between age at breast cancer diagnosis and prevalence of pathogenic variants.

Mary B Daly, Eric Rosenthal, Shelly Cummings, Ryan Bernhisel, John Kidd, Elisha Hughes, Alexander Gutin, Stephanie Meek, Thomas P Slavin, Allison W Kurian

Abstract read
In one paragraph

Article in Breast cancer research and treatment, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

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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

10 authors.

Mary B DalyFox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, 19111-2497, USA. Mary.Daly@fccc.edu.ORCID http://orcid.org/0000-0002-7490-6038
Eric RosenthalMyriad Genetics, Inc., Salt Lake City, UT, USA.
Shelly CummingsMyriad Genetics, Inc., Salt Lake City, UT, USA.
Ryan BernhiselMyriad Genetics, Inc., Salt Lake City, UT, USA.
John KiddMyriad Genetics, Inc., Salt Lake City, UT, USA.
Elisha HughesMyriad Genetics, Inc., Salt Lake City, UT, USA.
Alexander GutinMyriad Genetics, Inc., Salt Lake City, UT, USA.
Stephanie MeekMyriad Genetics, Inc., Salt Lake City, UT, USA.
Thomas P SlavinMyriad Genetics, Inc., Salt Lake City, UT, USA.
Allison W KurianStanford University School of Medicine, Stanford, CA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeYoung age at breast cancer (BC) diagnosis and family history of BC are strongly associated with high prevalence of pathogenic variants (PVs) in BRCA1 and BRCA2 genes. There is limited evidence for such associations with moderate/high penetrance BC-risk genes such as ATM, CHEK2, and PALB2.

methodsWe analyzed multi-gene panel testing results (09/2013-12/2019) for women unaffected by any cancer (N = 371,594) and those affected with BC (N = 130,151) ascertained for suspicion of hereditary breast and/or ovarian cancer. Multivariable logistic regression was used to test association between PV status and age at BC diagnosis (≤ 45 vs. > 45 years) or family history of BC after controlling for personal/family non-BC histories and self-reported ancestry.

resultsAn association between young age (≤ 45 years) at diagnosis and presence of PVs was strong for BRCA1 (OR 3.95, 95% CI 3.64-4.29) and moderate for BRCA2 (OR 1.98, 95% CI 1.84-2.14). Modest associations were observed between PVs and young age at diagnosis for ATM (OR 1.22, 95% CI 1.08-1.37) and CHEK2 (OR 1.34, 95% CI 1.21-1.47) genes, but not for PALB2 (OR 1.12, 95% CI 0.98-1.27). For women with BC, earliest age of familial BC diagnosis followed a similar pattern. For unaffected women, earliest age of family cancer diagnosis was significantly associated with PV status only for BRCA1 (OR 2.34, 95% CI 2.13-2.56) and BRCA2 (OR 1.25, 95% CI 1.16-1.35).

conclusionsYoung age at BC diagnosis is not a strong risk factor for carrying PVs in BC-associated genes ATM, CHEK2, or PALB2.

Indexed as

Breast NeoplasmsFemaleGenes, BRCA2Genetic Predisposition to DiseaseGenetic TestingHumansMiddle AgedPrevalenceBreast cancerCancer riskGenetic testing

Identifiers

PMID37084156
PMCPMC10175307

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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.