ArticleEuropean journal of human genetics : EJHG2015
A clinical and genetic analysis of multiple primary cancer referrals to genetics services.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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Who cites it
19 citing papers in PubMed.
- Endometrial Carcinoma and Associated Secondary Neoplasia: The Role of Clinical Features, Pathology, and Comorbidities in a University-Affiliated Clinical Center from Western Romania.Medicina (Kaunas, Lithuania) · 2025Article
- Genetic testing referral and germline pathogenic variants in patients with breast cancer and another non-breast cancer.Cancer genetics · 2025Article
- Article
- Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation.Molecular genetics & genomic medicine · 2025Article
- Risk of Subsequent Primary Cancers Among Adult-Onset 5-Year Cancer Survivors in South Korea: Retrospective Cohort Study.JMIR public health and surveillance · 2024Article
- Deciphering the Patterns of Dual Primary Cases Registered at the Hospital-Based Cancer Registry: First Experience from Rural Cancer Center in North India.Journal of laboratory physicians · 2023Article
- Germline whole genome sequencing in adults with multiple primary tumors.Familial cancer · 2023Article
- Multiple Primary Cancers in Patients Undergoing Tumor-Normal Sequencing Define Novel Associations.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.Scientific reports · 2021Article
- Whole-exome sequencing in a patient with synchronous triple primary malignancies involving lung cancer: a case report.Precision clinical medicine · 2020Article
- Molecular karyotyping and gene expression analysis in childhood cancer patients.Journal of molecular medicine (Berlin, Germany) · 2020Article
- Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.Oncotarget · 2018Article
- Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.American journal of human genetics · 2018Article
- Multiple Primary Malignant Tumors - A Clinical Analysis of 15,321 Patients with Malignancies at a Single Center in China.Journal of Cancer · 2018Article
- Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.The Journal of clinical endocrinology and metabolism · 2017Review
- Germline genetic variants in men with prostate cancer and one or more additional cancers.Cancer · 2017Article
- Rare germline alterations in cancer-related genes associated with the risk of multiple primary tumor development.Journal of molecular medicine (Berlin, Germany) · 2017Article
- Germline large genomic alterations on 7q in patients with multiple primary cancers.Scientific reports · 2017Article
- Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple primary malignant tumours (MPMT) are frequently taken as an indicator of potential inherited cancer susceptibility and occur at appreciable frequency both among unselected cancer patients and, particularly, among referrals to cancer genetics services. However, there is a paucity of information on the clinical genetic evaluation of cohorts of MPMT patients representing a variety of tumour types. We ascertained a referral-based series of MPMT cases and describe the patterns of tumours observed. Service-based molecular genetic testing had demonstrated a pathogenic germline variant in an inherited cancer gene in fewer than one in four unselected referrals. To assess for evidence of thus far unidentified variants in those who tested negative, comparisons were made with those who tested positive. This revealed considerable overlap between the two groups with respect to clinical characteristics indicative of an inherited cancer syndrome. We therefore proceeded to test a subset of unexplained MPMT cases (n=62) for pathogenic germline variants in TP53 and PTEN but none were detected. Individuals with MPMT may receive negative genetic test results for a number of reasons, which are discussed. Many of these may be addressed by the increasing application of next generation sequencing techniques such as inherited cancer gene panels.
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