Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.F37insFs
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PTEN

NM_000314.8:p.F37insFs

Associated Papers

Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.

Shen L et al.

Frontiers in Oncology, 2021

[PTEN and NBS1 gene mutations in familial breast cancer and early-onset breast cancer from Hunan Province in China].

Wu Y et al.

Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2016

Mutations of the KIT gene and loss of heterozygosity of the PTEN region in a primary malignant melanoma arising from a mature cystic teratoma of the ovary.

Tate G et al.

Cancer Genetics and Cytogenetics, 2009

Germline mutations in the breast cancer susceptibility gene PTEN are rare in high-risk non-BRCA1/2 French Canadian breast cancer families.

Guénard F et al.

Familial Cancer, 2007

Biallelic inactivating mutations and an occult germline mutation of PTEN in primary cervical carcinomas.

Kurose K et al.

Genes, Chromosomes & Cancer, 2000

Balanced translocation of 10q and13q, including the PTEN gene, in a boy with a human chorionic gonadotropin-secreting tumor and the Bannayan-Riley-Ruvalcaba syndrome.

Faisal Ahmed S et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

Marsh DJ et al.

Human Molecular Genetics, 1999

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR.

Martínez-Mir A et al.

Nature Genetics, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."