ArticleAmerican journal of human genetics1997
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 2 of them syntheses that pooled it.
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Who cites it
74 citing papers in PubMed, 2 syntheses or guidelines pooled it, 280 citations in OpenAlex.
- The Association of PTEN Gene Mutations with the Breast Cancer Risk: A Systematic Review and Meta-analysis.Biochemical genetics · 2024Pooled it
- ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.The American journal of gastroenterology · 2015Guideline
- Understanding Susceptibility to Breast Cancer: From Risk Factors to Prevention Strategies.International journal of molecular sciences · 2025Review
- Constitutional variants in PTEN: a frequent finding in patients with papillary tumors of the pineal region subtype B (PTPR-B) associated with isolated loss of chromosome 10.Acta neuropathologica · 2025Article
- High-throughput screening of the Saccharomyces cerevisiae genome for 2-amino-3-methylimidazo [4,5-f] quinoline resistance identifies colon cancer-associated genes.G3 (Bethesda, Md.) · 2023Article
- Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors.Journal of clinical medicine · 2023Article
- SHH medulloblastoma and very early onset of bowel polyps in a child withFrontiers in molecular neuroscience · 2023Review
- The impact of DNA testing on management of patients with colorectal cancer.Annals of gastroenterological surgery · 2022Review
- Combined p53- and PTEN-deficiency activates expression of mesenchyme homeobox 1 (MEOX1) required for growth of triple-negative breast cancer.The Journal of biological chemistry · 2020Article
- Genetic Alterations in Renal Cancers: Identification of The Mechanisms Underlying Cancer Initiation and Progression and of Therapeutic Targets.Medicines (Basel, Switzerland) · 2020Review
- Early-onset renal cell carcinoma inNPJ genomic medicine · 2020Article
- Review
- PTEN Genetic and Epigenetic Alterations Define Distinct Subgroups in North Indian Breast Cancer PatientsAsian Pacific journal of cancer prevention : APJCP · 2019Article
- Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing.Frontiers in genetics · 2018Article
- Article
- Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.Human mutation · 2017Article
- Gastrointestinal tract cancers: Genetics, heritability and germ line mutations.Oncology letters · 2017Article
- In situ generated D-peptidic nanofibrils as multifaceted apoptotic inducers to target cancer cells.Cell death & disease · 2017Article
- Next-generation sequencing in familial breast cancer patients from Lebanon.BMC medical genomics · 2017Article
- BRCA1 and BRCA2 mutations and treatment strategies for breast cancer.Integrative cancer science and therapeutics · 2017Article
14 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 6 institutions in 3 countries.
Funding
Abstract
PTEN, a protein tyrosine phosphatase with homology to tensin, is a tumor-suppressor gene on chromosome 10q23. Somatic mutations in PTEN occur in multiple tumors, most markedly glioblastomas. Germ-line mutations in PTEN are responsible for Cowden disease (CD), a rare autosomal dominant multiple-hamartoma syndrome. PTEN was sequenced from constitutional DNA from 25 families. Germ-line PTEN mutations were detected in all of five families with both breast cancer and CD, in one family with juvenile polyposis syndrome, and in one of four families with breast and thyroid tumors. In this last case, signs of CD were subtle and were diagnosed only in the context of mutation analysis. PTEN mutations were not detected in 13 families at high risk of breast and/or ovarian cancer. No PTEN-coding-sequence polymorphisms were detected in 70 independent chromosomes. Seven PTEN germ-line mutations occurred, five nonsense and two missense mutations, in six of nine PTEN exons. The wild-type PTEN allele was lost from renal, uterine, breast, and thyroid tumors from a single patient. Loss of PTEN expression was an early event, reflected in loss of the wild-type allele in DNA from normal tissue adjacent to the breast and thyroid tumors. In RNA from normal tissues from three families, mutant transcripts appeared unstable. Germ-line PTEN mutations predispose to breast cancer in association with CD, although the signs of CD may be subtle.
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