ArticleBMC medicine2022
Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies.
Article in BMC medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- Clinico-Morphological and Genetic Features of Colorectal Cancer in Multiple Primary Cancers Cases.Biochemical genetics · 2026Article
- From Leukemia to Solid Tumors, Successful Multidisciplinary Management of Three Distinct Primary Cancers in a Single Patient: A Case Report.Clinical case reports · 2026Article
- Long-read sequencing and proteomics reveal blood transcriptome and protein expression profiles in multiple primary lung cancers.BMC cancer · 2026Article
- Breast cancer as the first primary malignancy: clinical pathological characteristics of common cancer combinations.Discover oncology · 2025Review
- Changes in multi-gene cancer panels for children: A 4-year retrospective review.Journal of genetic counseling · 2025Article
- Genetic testing referral and germline pathogenic variants in patients with breast cancer and another non-breast cancer.Cancer genetics · 2025Article
- Article
- Decoding the mechanisms behind second primary cancers.Journal of translational medicine · 2025Review
- Smoking and the Risk of Second Primary Lung Cancer Among Breast Cancer Survivors from the Population-Based UK Biobank Study.Clinical lung cancer · 2024Article
- Article
- Characterising the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases.medRxiv : the preprint server for health sciences · 2024Article
- Review
- Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer.Human genomics · 2023Article
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundUp to one of every six individuals diagnosed with one cancer will be diagnosed with a second primary cancer in their lifetime. Genetic factors contributing to the development of multiple primary cancers, beyond known cancer syndromes, have been underexplored.
methodsTo characterize genetic susceptibility to multiple cancers, we conducted a pan-cancer, whole-exome sequencing study of individuals drawn from two large multi-ancestry populations (6429 cases, 165,853 controls). We created two groupings of individuals diagnosed with multiple primary cancers: (1) an overall combined set with at least two cancers across any of 36 organ sites and (2) cancer-specific sets defined by an index cancer at one of 16 organ sites with at least 50 cases from each study population. We then investigated whether variants identified from exome sequencing were associated with these sets of multiple cancer cases in comparison to individuals with one and, separately, no cancers.
resultsWe identified 22 variant-phenotype associations, 10 of which have not been previously discovered and were significantly overrepresented among individuals with multiple cancers, compared to those with a single cancer.
conclusionsOverall, we describe variants and genes that may play a fundamental role in the development of multiple primary cancers and improve our understanding of shared mechanisms underlying carcinogenesis.
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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.