𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types

✍ Scribed by Siân Jones; Meng Li; D. Williams Parsons; Xiaosong Zhang; Jelle Wesseling; Petra Kristel; Marjanka K. Schmidt; Sanford Markowitz; Hai Yan; Darell Bigner; Ralph H. Hruban; James R. Eshleman; Christine A. Iacobuzio-Donahue; Michael Goggins; Anirban Maitra; Sami N. Malek; Steve Powell; Bert Vogelstein; Kenneth W. Kinzler; Victor E. Velculescu; Nickolas Papadopoulos

Book ID
102261339
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
180 KB
Volume
33
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Mutations in the chromatin remodeling gene ARID1A have recently been identified in the majority of ovarian clear cell carcinomas (OCCCs). To determine the prevalence of mutations in other tumor types, we evaluated 759 malignant neoplasms including those of the pancreas, breast, colon, stomach, lung, prostate, brain, and blood (leukemias). We identified truncating mutations in 6% of the neoplasms studied; nontruncating somatic mutations were identified in an additional 0.4% of neoplasms. Mutations were most commonly found in gastrointestinal samples with 12 of 119 (10%) colorectal and 10 of 100 (10%) gastric neoplasms, respectively, harboring changes. More than half of the mutated colorectal and gastric cancers displayed microsatellite instability (MSI) and the mutations in these tumors were out-of-frame insertions or deletions at mononucleotide repeats. Mutations were also identified in 2–8% of tumors of the pancreas, breast, brain (medulloblastomas), prostate, and lung, and none of these tumors displayed MSI. These findings suggest that the aberrant chromatin remodeling consequent to ARID1A inactivation contributes to a variety of different types of neoplasms.

📜 SIMILAR VOLUMES

Somatic mutations of the PTEN tumor supp
Somatic mutations of the PTEN tumor suppressor gene in sporadic follicular thyroid tumors
✍ Naomi Halachmi; Sarel Halachmi; Ella Evron; Paul Cairns; Kenji Okami; Motoyasu S 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 113 KB 👁 3 views

The PTEN (MMAC1/TEP1) tumor suppressor gene was recently isolated and mapped to human chromosome band 10q23. Homozygous deletions and mutations of PTEN were observed in cell lines and sporadic cancers of the breast, kidney, and central nervous system. Germline mutations in PTEN were recently found i

Characterization of the somatic mutation
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors
✍ Meena Upadhyaya; Song Han; Claudia Consoli; Elisa Majounie; Martin Horan; Nick S 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 307 KB 👁 1 views

## Communicated by Haig H. Kazazian One of the main features of neurofibromatosis type 1 (NF1) is benign neurofibromas, 10-20% of which become transformed into malignant peripheral nerve sheath tumors (MPNSTs). The molecular basis of NF1 tumorigenesis is, however, still unclear. Ninety-one tumors