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SEPT2 is a new fusion partner of MLL in acute myeloid leukemia with t(2;11)(q37;q23)
TLDR
SEPT2 is the fifth septin family gene fused with MLL, making this gene family the most frequently involved in MLL-related AML (about 10% of all known fusion partners), and is involved in the coordination of several key steps of mitosis. Expand
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.
Up to 10% of cases of gastric cancer are familial, but so far, only mutations in CDH1 have been associated with gastric cancer risk. To identify genetic variants that affect risk for gastric cancer,Expand
High resolution melting analysis of KRAS, BRAF and PIK3CA in KRAS exon 2 wild-type metastatic colorectal cancer
TLDR
About one fourth of mCRC cases wild-type for KRAS codons 12 and 13 present other mutations either in KRAS, BRAF, or PIK3CA, many of which may explain the lack of response to anti-EGFR therapy observed in a significant proportion of these patients. Expand
Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene
TLDR
The breakpoints of two novel large deletions involving the BRCA1 gene are described and analysis of their genomic context allowed us to gain insight about the respective mutational mechanism. Expand
Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation
TLDR
The results indicate that the pattern of genetic changes differs in CRC depending on tumour location and between Lynch syndrome and sporadic MSI CRC, suggesting that carcinogenesis can occur by different pathways even if driven by generalised MSI. Expand
Colorectal carcinomas with microsatellite instability display a different pattern of target gene mutations according to large bowel site of origin
TLDR
The mechanism and the pattern of genetic changes driving MSI-H carcinogenesis in distal colon and rectum appears to differ from that occurring elsewhere in the colon and further investigation is warranted both in patients with sporadic or hereditary disease. Expand
The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry
TLDR
It is recommended that all suspected HBOC families from Portugal or with Portuguese ancestry, even those fulfilling moderately stringent clinical‐criteria for genetic testing, should be specifically analyzed for the two most common BRCA1/BRCA2 founder mutations, and a simple method for this first tier test is presented. Expand
A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families
TLDR
It is indicated that screening for this MLH1 exonic rearrangement as a first step may be cost-effective during genetic testing of Lynch syndrome suspects of Portuguese ancestry, especially those originating from the Porto district. Expand
Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity
TLDR
Next-generation sequencing is validated for the detection of BRCA1/BRCA2 point mutations in a diagnostic setting and the role of other genes associated with HBOC in Portuguese families is studied to highlight the genetic heterogeneity of HBOC. Expand
Chromosome copy number changes carry prognostic information independent of KIT/PDGFRA point mutations in gastrointestinal stromal tumors
TLDR
It is indicated that secondary chromosomal changes contribute significantly to tumor development and progression of GIST and that genomic complexity carries independent prognostic value that complements clinico-pathological and genotype information. Expand
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