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Showing posts with label double mutations. Show all posts
Showing posts with label double mutations. Show all posts
Friday, January 13, 2012

abstract: Pancreatic cancer and a novel MSH2 germline alteration

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CONCLUSIONS: The MSH2 P349L may increase the risk for pancreatic cancer beyond the usual mutations in DNA mismatch repair genes; however...
Wednesday, January 04, 2012

Narod: Should All Women With Breast Cancer Be Tested for BRCA Mutations at the Time of Diagnosis?

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....For now, perhaps the simplest recommendation is to test women under age 50 years with triple-negative breast cancer a...
Friday, December 30, 2011

Recurrent Somatic DICER1 Mutations in Nonepithelial Ovarian Cancers — NEJM

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Saturday, August 13, 2011

The predicted truncation from a (ovarian) cancer-associated variant of the MSH2 initiation codon alters activity of the MSH2-MSH6 mismatch repair complex

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Abstract Lynch syndrome (LS) is caused by germline mutations in DNA mismatch repair (MMR) genes. MMR recognizes and repairs DNA mismat...
Friday, June 03, 2011

Mutational analysis and clinical correlation of 185 consecutive metastatic colorectal patients: Similarities and differences between colon and rectal patients| 2011 ASCO Abstract

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Conclusions: Rectal and colon patients have similar rates of KRAS and PIK3CA mutations. However, BRAF mutations are more common in co...
Wednesday, March 30, 2011

full free access: Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report

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Abstract Pakistani population has a very rich anthrogeneological background with waves of migration from neighboring regions. Incidence ra...
Saturday, March 12, 2011

Penetrance (mutations) - Wikipedia, the free encyclopedia

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Associated terminology complete penetrance . The allele is said to have complete penetrance if all individuals who have the disease-causing...
Friday, January 14, 2011

full free text: Targeted Epigenetic Therapies: The Next Frontier? — J. Natl. Cancer Inst. (includes discussion regarding clear cell/ARIDIa mutation

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Targeted Epigenetic Therapies: The Next Frontier? 1. Rabiya S. Tuma When researchers look for mutations associated with cancer, they oft...
Wednesday, November 17, 2010

OncoMap Gene Sequencing Finds 50 Mutations in Ovarian Tumors : Internal Medicine News

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".....The team, testing 203 samples with OncoMap, found mutations of 50 genes in total. Some mutations were in genes previously identif...
Monday, September 20, 2010

Medical News: BRCA1 Breast Cancer Risk Linked to Other Mutations (more detailed report - Medpage)

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Tuesday, August 17, 2010

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

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Abstract Mutations in the two breast cancer susceptibility genes BRCA1 and BRCA2 are associated with increased risk of breast and ovarian ...