Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndromes are among the best-known and most extensively studied hereditary cancer syndromes. Nevertheless, many patients who proved negative at BRCA genetic testing bring pathogenic mutations in other suppressor genes and oncogenes associated with hereditary breast and/or ovarian cancers. These genes include TP53 in Li-Fraumeni syndrome, PTEN in Cowden syndrome, mismatch repair (MMR) genes in Lynch syndrome, CDH1 in diffuse gastric cancer syndrome, STK11 in Peutz-Jeghers syndrome, and NF1 in neurofibromatosis type 1 syndrome. To these, several other genes can be added that act jointly with BRCA1 and BRCA2 in the double-strand break repair system, such as PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D. Management of primary and secondary cancer prevention in these hereditary cancer syndromes is crucial. In particular, secondary prevention by screening aims to discover precancerous lesions or cancers at their initial stages because early detection could allow for effective treatment and a full recovery. The present review aims to summarize the available literature and suggest proper screening strategies for hereditary breast and/or ovarian cancer syndromes other than BRCA.
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PMID:Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA. 3273 58

About 5%-10% of breast cancer is hereditary with BRCA1 and BRCA2 being the most common genes associated with hereditary breast cancer (HBC). Several additional genes have recently been associated with HBC. These genes can be classified as highly or moderately penetrant genes with lifetime risk >30% or 17%-30%, respectively. Highly penetrant genes associated with HBC include TP53, PTEN, CDH1, STK11, and PALB2. While, moderately penetrant genes include CHEK2, ATM, BARD1, BRIP1, NBN, NF1, RAD51D, and MSH6. Breast cancer risk and recommendations for screening and risk-reduction vary by gene. In general, screening breast MRI is recommended for women at >20% lifetime risk, which includes women with mutations in highly penetrant genes and the majority (but not all) moderately penetrant genes. Consideration of chemoprevention is recommended for women with mutations in high and moderately penetrant genes. Risk-reducing mastectomy does reduce the risk of breast cancer to the greatest extent and can be considered for women with highly penetrant genes. However, this procedure is associated with significant morbidities that should be considered, especially given the benefit of using screening breast MRI for high-risk women. BSO is only recommended for women with mutations in genes associate with increased risk for ovarian cancer and not as a breast cancer risk-reducing strategy. As more women undergo testing, additional genes may be identified and risk estimates for current genes and management recommendations may be modified.
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PMID:Risk for breast cancer and management of unaffected individuals with non-BRCA hereditary breast cancer. 3274 Oct 80

Spinal schwannoma is the most common primary spinal tumor but its genomic landscape and underlying mechanism driving its initiation remain elusive. The aim of the present study was to gain further insights into the molecular mechanisms of this kind of tumor through whole genome sequencing of nine spinal schwannomas and paired blood samples. The results showed that ATM, CHD4, FAT1, KMT2D, MED12, NF2, and SUFU were the most frequently mutated cancer-related genes. In addition, the somatic copy number alterations (CNA) was potentially associated with spinal schwannoma, among which NF2 was found to be frequently deleted in schwannoma samples. Only a few genes were located within the amplified regions. In contrast, the deleted regions in 15q15.1 and 7q36.1 contained most of these genes. With respect to tumorigenesis, NF2 had the highest variant allele frequency (VAF) than other genes, and homozygous deletion was observed in NF1, NF2, and CDKN2C. Pathway-level analysis suggested that Hippo signaling pathway may be a critical pathway controlling the initiation of spinal schwannoma. Collectively, this systematic analysis of DNA sequencing data revealed that some key genes including NF1, NF2, and CDKN2C and Hippo signaling pathway were associated with spinal schwannoma, which may help improve our understanding about the genomic landscape of spinal schwannoma.
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PMID:Whole Genome Sequencing Identifies Key Genes in Spinal Schwannoma. 3319 98


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