Beware of other conditions that can mimic polycythemia vera: Erythrocytosis Any cause of absolute erythrocytosis can mimic polycythemia. Hypoxia such as caused by chronic carbon monoxide exposure, high altitude, chronic pulmonary disease, high oxygen affinity hemoglobins, and right to left pulmonary artery shunts, Renal disease, including renal artery stenosis, focal sclerosing glomerulonephritis, and post renal transplantation, Tumors, including hypernephroma, hepatoma, and cerebellar hemangioblastoma, Congenital disorders such as Chuvash polycythemia and erythropoietin receptor mutations, Drugs, such as androgenic steroids and recombinant erythropoietin, and genetic mutations in the erythropoietin receptor or rarely, in the proteins that control erythropoietin production.
The HR23 proteins were identified more than two decades ago as factors involved in initiation of global genome nucleotide excision repair GG-NER along with their interacting partner, xeroderma pigmentosum group C XPC protein. Because the HR23 genes encode proteins harboring ubiquitin-like UBL domains at their N-termini and two ubiquitin-associated UBA domains in their central- and C-terminal regions, the link between HR23 proteins and proteolytic degradation has been widely explored by several methods, including yeast two-hybrid screening and co-affinity purification.
To date, various HR23 protein partners have been identified, and these proteins are involved not only in DNA repair, but also in ubiquitin-dependent protein degradation, transcriptional regulation, and cell cycle control.
In addition, establishment of mouse strains lacking the HR23 genes and RNA silencing of these genes in human cells demonstrated their significance in animal development and cell growth. Through these studies, the functional differences between the two HR23 proteins have been gradually revealed.
Furthermore, recent comprehensive proteomic analyses will help to elucidate the functional protein-protein networks involving the HR23 proteins. Novel Nonsense Variants c. Asian Pac J Cancer Prev.
Our objective in the current study was to analyze mutations in related to breast cancer. A total of individuals including breast cancer patients and normal subjects were enrolled and all 14 exons of CHEK2 were amplified and sequenced.
Two novel nonsense variants i. E85X at exon 1 and 2 in two breast cancer patients were identified, both novel and not reported elsewhere. Cases of multiple tumors are rarely reported in China.
In our study, a year-old female patient had concurrent squamous cell carcinoma, mucoepidermoid carcinoma, brain cancer, bone cancer, and thyroid cancer, which has rarely been reported to date. To determine the relationship among these multiple cancers, available DNA samples from the thyroid, lung, and skin tumors and from normal thyroid tissue were sequenced using whole exome sequencing.
The notable discrepancies of somatic mutations among the 3 tumor tissues indicated that they arose independently, rather than metastasizing from 1 tumor.
A novel deleterious germline mutation chr Examining the status of this novel mutation in the patient's healthy siblings revealed its de novo origin. Our study reports the first case of Li-Fraumeni syndrome-like in Chinese patients and demonstrates the important contribution of de novo mutations in this type of rare disease.
N Engl J Med. Although the prevalence of germline mutations in DNA-repair genes among men with localized prostate cancer who are unselected for family predisposition is insufficient to warrant routine testing, the frequency of such mutations in patients with metastatic prostate cancer has not been established.
We recruited men with documented metastatic prostate cancer who were unselected for family history of cancer or age at diagnosis.
We isolated germline DNA and used multiplex sequencing assays to assess mutations in 20 DNA-repair genes associated with autosomal dominant cancer-predisposition syndromes. A total of 84 germline DNA-repair gene mutations that were presumed to be deleterious were identified in 82 men Mutation frequencies did not differ according to whether a family history of prostate cancer was present or according to age at diagnosis.
Overall, the frequency of germline mutations in DNA-repair genes among men with metastatic prostate cancer significantly exceeded the prevalence of 4. In our multicenter study, the incidence of germline mutations in genes mediating DNA-repair processes among men with metastatic prostate cancer was The frequencies of germline mutations in DNA-repair genes among men with metastatic disease did not differ significantly according to age at diagnosis or family history of prostate cancer.
Funded by Stand Up To Cancer and others. The molecular basis for these other causes of HRD are being defined. They include individual gene defects e.
Testing this knowledge is possible when selecting patients to receive molecular therapy targeting DNA repair, not only for patients with ovarian cancer but also endometrial and cervical cancers.
The validity of HRD assays and multiple gene sequencing panels to select a broader population of patients for treatment with PARP inhibitor therapy is under evaluation.
This article describes recent evidence supporting strategies in addition to BRCA mutation for selecting patients for treatment with PARP inhibitor therapy.
Additionally, the challenges and opportunities of exploiting DNA repair pathways other than homologous recombination for molecular therapy in gynecologic cancers is discussed. A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
Sequencing of both healthy and disease singletons yields many novel and low frequency variants of uncertain significance VUS. Complete gene and genome sequencing by next generation sequencing NGS significantly increases the number of VUS detected.
While prior studies have emphasized protein coding variants, non-coding sequence variants have also been proven to significantly contribute to high penetrance disorders, such as hereditary breast and ovarian cancer HBOC.
We present a strategy for analyzing different functional classes of non-coding variants based on information theory IT and prioritizing patients with large intragenic deletions. We captured and enriched for coding and non-coding variants in genes known to harbor mutations that increase HBOC risk.
Aside from protein coding and copy number changes, IT-based sequence analysis was used to identify and prioritize pathogenic non-coding variants that occurred within sequence elements predicted to be recognized by proteins or protein complexes involved in mRNA splicing, transcription, and untranslated region UTR binding and structure.
This approach was supplemented by in silico and laboratory analysis of UTR structure. With the unified IT-framework, variants were identified and 87 functionally significant VUS were further prioritized.Late effects of cancer treatment can cause serious, disabling, and life-threatening chronic health conditions that adversely affect the health of aging childhood cancer survivors.
Learn about subsequent neoplasms and the cardiovascular, cognitive, psychosocial, digestive, endocrine, immune, musculoskeletal, reproductive, and urinary late effects of pediatric cancer treatment in this expert. Breast cancer is very common and the leading cause of cancer deaths among women globally.
Hereditary cases account for % of the total burden and CHEK2, which plays crucial role in response to DNA damage to promote cell cycle arrest and repair or induce apoptosis, is considered as a moderate penetrance breast cancer risk gene.
Secondhand smoke can triple risk of lung cancer by ANDRÉ PICARD / PUBLIC HEALTH REPORTER Source: Globe and Mail, July 12, Region: CANADA People who are routinely exposed to a lot of secondhand smoke, such as workers in bars and restaurants, can see their risk of lung cancer .
Cancer Prevention Center. Considering the needs of pediatric cancer patients' siblings. BY Morgan Henry. Since parents understandably tend to focus on the pediatric patient during treatment, setting aside special time for parents and the other children only can be very meaningful.
Even if parents spend just an hour of one-on-one time. This Childhood Cancer Genomics summary provides a brief synopsis of current knowledge about the genomic landscape of specific childhood cancers. Get detailed information about various genetic alterations and precision medicine concepts in childhood cancers in this summary for clinicians.
Tira November 14, at pm.
Hi Jamie We have been to the vet times this week so I have not had a chance to sit still. Or make calls yet but, yes, ultrasound showed he had the Swiss cheese liver damage and they have biopsies in progress from paws, tail, and mouth.