ArticleHuman genetics2017
Expanding the spectrum of germline variants in cancer.
Article in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Summary ofGenes · 2020Pooled it
- BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.Journal of ovarian research · 2020Pooled it
- Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.Cell death & disease · 2026Article
- Germline pathogenic variants among high hereditary risk patients with breast and ovarian cancer and unaffected subjects in Lebanese Arab women.World journal of clinical oncology · 2024Article
- Whole Exome-Wide Association Identifies Rare Variants inCancers · 2024Article
- Identification and characterization of ATM founder mutation in BRCA-negative breast cancer patients of Arab ethnicity.Scientific reports · 2023Article
- The Impact of BRCA1 Expression on Survival Status in Ovarian Serous Carcinoma of Egyptian Patients.Asian Pacific journal of cancer prevention : APJCP · 2023Article
- PALB2 germline mutations in a large cohort of Middle Eastern breast-ovarian cancer patients.Scientific reports · 2023Article
- Thyroid Cancer, Neuroendocrine Tumor, Adrenal Adenoma, and Other Tumors in a Patient With a GermlineJournal of the Endocrine Society · 2023Article
- Lynch Syndrome Identification in Saudi Cohort of Endometrial Cancer Patients Screened by Universal Approach.International journal of molecular sciences · 2022Article
- High Number of Familial Breast Cancer Cases in the Arabian Gulf Countries: Investigating the Reasons.Breast cancer : basic and clinical research · 2022Article
- POLE and POLD1 germline exonuclease domain pathogenic variants, a rare event in colorectal cancer from the Middle East.Molecular genetics & genomic medicine · 2020Article
- Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.Breast cancer research : BCR · 2020Article
- Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population.NPJ genomic medicine · 2020Review
- Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.Cancer research and treatment · 2019Article
- Identification of Rare Variants Predisposing to Thyroid Cancer.Thyroid : official journal of the American Thyroid Association · 2019Article
- Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.Hereditary cancer in clinical practice · 2019Article
- GermlineCancer cell international · 2019Article
- Cancer Genetics in the Arab World.Technology in cancer research & treatmentReview
Corrections and comments
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Authors and funding
19 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Our ability to identify germline variants in hereditary cancer cases remains challenged by the incomplete cataloging of relevant genes and lack of consensus on who should be tested. We designed a panel [hereditary oncogenesis predisposition evaluation (HOPE)] that encompasses most of the genes known to be associated with cancer development and tested its yield on more than 1300 samples of cancer patients. Pathogenic or likely pathogenic variants in high and intermediate risk genes were identified in 16, 23.9, 9.7 and 2.7%, respectively, of peripheral blood or normal tissue samples taken from patients with breast, ovarian, colorectal and thyroid cancer. To confirm specificity of these findings, we tested an ethnically matched cohort of 816 individuals and only identified pathogenic or likely pathogenic variants in 1.59% (0.98% in high risk and 0.61% in intermediate risk). Remarkably, pathogenic or likely pathogenic alleles in DNA repair/genomic instability genes (other than BRCA2, ATM and PALB2) accounted for at least 16.8, 11.1, 50 and 45.5% of mutation-positive breast, ovarian, thyroid and colorectal cancer patients, respectively. Family history was noticeably lacking in a substantial fraction of mutation-positive cases (63.7, 81.5, 42.4 and 87.5% in breast, ovarian, colorectal and thyroid, respectively). Our results show high contribution of germline mutations to cancer predisposition that extends beyond "classical" hereditary cancer genes. Family history was lacking in 63.5% mutation-positive cases, shows that hereditary cancer need not appear familial and suggests that relaxed selection of cancer patients for hereditary cancer panels should be considered.
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