نتایج جستجو برای: germline mutation
تعداد نتایج: 300136 فیلتر نتایج به سال:
Germline mutations in the BRCA1 and BRCA2 genes are strong genetic factors for predispositions to breast, ovarian, and other related cancers. This report describes a family with a history of breast and ovarian cancers that harbored a novel BRCA1 germline mutation. A single nucleotide deletion in intron 20, namely c.5332+4delA, was detected in a 43-year-old patient with breast cancer. This mutat...
To the Editor: Trivellin et al. (Dec. 18 issue)1 report a recurrent activating GPR101 mutation (p.E308D) in 11 of 248 tumor DNA samples from patients with isolated acromegaly. Of these patients, 3 carried a germline GPR101 mutation. Two of the 3 patients are being treated at our institution and were identified among 38 patients from our cohort. This might suggest a higher prevalence of germline...
DICER1 syndrome is a tumor predisposition caused by abnormal micro-RNA processing which leads to variety of benign and malignant neoplasms in many organ systems, including the central nervous system. This paper reports case primary intracranial sarcoma, DICER1-mutant, patient with germline variant thought most likely be de novo. The ten-year-old boy who presented acutely altered level conscious...
Poly(A/T) tracts are abundant simple sequence repeats (SSRs) within the human genome. They constitute part of the coding sequence of a variety of genes, encoding polylysine stretches that are important for protein function. Assessment of poly(A/T) tract stability is also used to identify microsatellite unstable colorectal cancers, which are characteristic of tumours defective in DNA mismatch re...
Mutations in the BRCA1 and BRCA2 genes are known risk factors drivers of breast ovarian cancers. So far, few studies have been focused on understanding differences transcriptome functional landscapes associated with disease (breast vs. cancers), gene (BRCA1 BRCA2), mutation type (germline somatic). In this study, we were aimed at systemic evaluation association germline somatic mutations expres...
BACKGROUND Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease. It severely decreases patient quality of life and leads elevated cancer risk. Germline mutation of LKB1 is the leading cause of familial PJS. MATERIAL AND METHODS To characterize the germline mutation of LKB1 gene in Chinese familial and sporadic PJS patients, 14 PJS families, 5 sporadic PJS patients, and 250 heal...
The two-hit model of carcinogenesis provides a valuable framework for understanding the role of DNA repair and tumor suppressor genes in cancer development and progression. Under this model, tumor development can initiate from a single somatic mutation in individuals that inherit an inactivating germline variant. Although the two-hit model can be an overgeneralization, the tendency for the patt...
familial adenomatous polyposis (fap) is responsible for < 1% of colorectal cancer (crc) cases and is inherited as an autosomal dominant trait. patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (apc) tum...
Lynch syndrome (LS) is an autosomal-dominant inherited disorder mainly caused by a germline mutation in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) and is associated with increased risk for various cancers, particularly colorectal cancer and endometrial cancer (EC). Women with LS account for 2% to 6% of EC patients; it is clinically important to identify LS in such individu...
BACKGROUND A recent study of familial and early onset prostate cancer reported a recurrent rare germline mutation of HOXB13 among men of European descent. The gene resides within the 17q21 hereditary prostate cancer linkage interval. METHODS We evaluated the G84E germline mutation (rs138213197) of HOXB13 in a case-control study of familial prostate cancer at Vanderbilt University (Nashville, ...
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