Evidence map›Paper›PMID 39602012›Full record

ArticleBreast cancer research and treatment2025

Rare germline variants in cancer-relevant genes are associated with breast cancer risk in young women with high-risk family history.

Mariya Rozenblit, Tao Qing, Yixuan Ye, Hongyu Zhao, Erin Hofstatter, Vinit Singh, Emily Reisenbichler, Michael Murray, Lajos Pusztai

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In one paragraph

Article in Breast cancer research and treatment, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Mariya Rozenblit *Breast Medical Oncology, School of Medicine, Yale University, New Haven, CT, USA. Mariya.Rozenblit@yale.edu.ORCID http://orcid.org/0000-0003-0244-429X
Tao Qing *Breast Medical Oncology, School of Medicine, Yale University, New Haven, CT, USA.
Yixuan YeComputation Biology and Bioinformatics Program, Yale University, New Haven, CT, USA.
Hongyu ZhaoComputation Biology and Bioinformatics Program, Yale University, New Haven, CT, USA.
Erin HofstatterBreast Medical Oncology, School of Medicine, Yale University, New Haven, CT, USA.
Vinit SinghBreast Medical Oncology, School of Medicine, Yale University, New Haven, CT, USA.
Emily ReisenbichlerDepartment of Pathology, Yale University, New Haven, CT, USA.
Michael MurrayDepartment of Genetics, Yale Center for Genomic Health, New Haven, CT, USA.
Lajos PusztaiBreast Medical Oncology, School of Medicine, Yale University, New Haven, CT, USA.

Funding

Conquer Cancer Foundation YIA 2020
6 · The paper itself

Abstract

introductionIt is incompletely understood why some women develop breast cancer 15-20 years earlier than the majority of women. We hypothesize that women with early-onset breast cancer and high-risk family history without germline pathogenic variants in cancer-predisposing genes (CPGs, n = 83) have a higher load of germline high functional impact variants (gHFI) in cancer hallmark genes (n = 1508) compared to healthy controls.

methodsGermline whole exome sequencing data were analyzed from 5818 breast cancer cases from UKBiobank and from 94 young women with breast cancer without CPG pathogenic variants from the Yale Cancer Prevention Clinic, and compared to 149 controls from Yale GENERATIONS project and 56,917 controls from UKBiobank. Rare gHFI variants were compared between cases and controls using the burden test and the optimal unified SNP-set Kernel Association Test (SKAT-O). We assessed germline versus somatic origins of pathway level alterations in the TCGA and Yale data.

resultsIn UKBiobank, higher gHFI variant load was seen in CPGs in cancer cases regardless of family history (p < 8.78 × 10

Indexed as

Breast NeoplasmsGenetic Predisposition to DiseaseGerm-Line MutationAdultCase-Control StudiesExome SequencingFemaleHumansMiddle AgedPolymorphism, Single NucleotideRisk FactorsYoung AdultBreast cancerCancer-relevant genesGermline variantsYoung women

Identifiers

PMID39602012

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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.