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Mashup Score: 0Online Genetic Education Programs May Spur Testing for Patients at Risk for Cancer - The ASCO Post - 2 month(s) ago
Although research has shown that an inherited susceptibility to some types of cancers may be more prevalent than previously thought, genetic testing among the family members of patients with cancer has yet to increase as anticipated. “We know that 5% to 10% of all cancer [types] are linked to inherited genetic variations, [w]e know the specific variants linked to those cancers, and we know that cancer incidence and mortality can be reduced by identifying [patients] who carry those variants and intervening
Source: ascopost.comCategories: General Medicine News, Onc News and JournalsTweet
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Mashup Score: 1Q&A: Riccardo Dalla-Favera on Cancer Genetics - 8 month(s) ago
Cancer as a genetic disease begins with genetic lesions in proto-oncogenes, key regulators of cellular physiology. Discoveries by Riccardo Dalla-Favera, MD, and his team have shaped the modern cancer genetics paradigm, from cloning the first human proto-oncogenes and their cancer-associated variants to elucidating mechanisms of genetic alterations, and mapping the biological processes by which the genetic lesions cause lymphoma. “Most human diseases are cured when you know the mechanism,” Dalla-Favera believes. Toward this aim, his seminal contributions have led to diagnostic and therapeutic advances in lymphoma. Dalla-Favera’s discoveries have been recognized by this year’s AACR Award for Outstanding Achievement in Blood Cancer Research. As the director of the Institute for Cancer Genetics and professor at Columbia University, New York, Dalla-Favera continues pursuing fundamental questions regarding the genetic mechanisms of cancer through the lens of lymphoma. He shares his perspecti
Source: aacrjournals.orgCategories: Hem/Onc News and Journals, Latest HeadlinesTweet-
RT @BCD_AACR: From the September issue— Q&A: Riccardo Dalla-Favera on #CancerGenetics. https://t.co/qEdH5zJTt5 https://t.co/EnSpWjzHo0
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Mashup Score: 2Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions - PubMed - 8 month(s) ago
Overall, these results suggest that some genetic risk variants are shared among cancers, though much of cancer heritability is cancer-specific and thus tissue-specific. The increase in statistical power associated with larger sample sizes in cross-disease analysis allows for the identification of no …
Source: pubmed.ncbi.nlm.nih.govCategories: Latest Headlines, Oncologists1Tweet-
SCI leader Mellisa Bondy & others found a modest genome-wide genetic correlation across cancers. 15 novel susceptibility loci identified through cross-cancer GWAS & transcriptome-wide association studies. https://t.co/ML0Cd2D1YO #CancerGenetics https://t.co/OGeWKfdujt
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Mashup Score: 0
Background Patients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic basis is mostly unknown. We aimed to identify new germline predisposition factors for SPS by functionally evaluating a candidate gene and replicating it in additional SPS cohorts. Methods After a previous whole-exome sequencing…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
👀 Previously "online first" in press last week 📖 Germline mutations in WNK2 affect #MAPK pathway & may be associated with serrated #polyposis OpenAccess: https://t.co/SYr7fukD26 #Cancer #CancerGenetics @LValleResearch @laiabonjoch @frankbalaguer @RMdeVoer @mdiazgay https://t.co/I5XTdVOJ4T
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Mashup Score: 0TP53 c.455C>T p.(Pro152Leu) pathogenic variant is a lower risk allele with attenuated risks of breast cancer and sarcoma - 12 month(s) ago
Germline (likely) pathogenic TP53 variants cause Li-Fraumeni syndrome (LFS), typically associated with sarcoma, brain, breast and adrenal tumours. Although classical LFS is highly penetrant, the p.R337H variant, common in Brazil, is typically associated with childhood adrenal tumours and an older onset age of other LFS tumours. Previously, we reported the finding of p.P152L in 6 children from 5…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
#TP53 c.455C>T p.(Pro152Leu) - a lower risk pathogenic variant - lower risks of breast cancer / sarcoma Read the paper: https://t.co/neYVMons6K @ER_Woodward @UKCGG pic: @theNCI #Genetics #CancerGenetics #LiFraumeni @LivingLFS @LFSAssociation @BeetsWhoTweets https://t.co/PktSiolakR
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Mashup Score: 0Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study - 1 year(s) ago
Background Approximately 10% of gastric cancers (GCs) are associated with strong familial clustering and can be attributed to genetic predisposition. Homologous recombination deficiency (HRD) leads to genomic instability and accumulation of genetic variations, playing an important role in the development and progression of cancer. We aimed to delineate the germline mutation characteristics of…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
Hereditary #GastricCancer -both homologous recombination deficiency (HRD) +/- mismatch repair (MMR) gene variants may cause early-onset GC - large-scale retrospective Chinese study #OpenAccess ➡️ https://t.co/sMsAd9qcyT #Cancer #Genetics #CancerGenetics https://t.co/N8gdJjXDev
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Mashup Score: 2APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings? - 2 year(s) ago
APC germline pathogenic variants result in predisposition to familial adenomatous polyposis and extraintestinal tumours such as desmoid fibromatosis, medulloblastomas and thyroid cancers. They have also been recently involved in ovarian microcystic stromal tumours. APC inactivation has been described at the tumour level in epithelial ovarian cancers (EOCs). Here, we report the identification of…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
#APC germline pathogenic variants and epithelial #OvarianCancer: causal or coincidental findings? https://t.co/TJqRNRYN7b #Cancer #CancerGenetics @RoselineVibert Image: Ovarian cancer cells, @theNCI https://t.co/BJ2Ysgp35H
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Mashup Score: 2Put Cancer To The Test - LFS Awareness Month - 2 year(s) ago
Share this information with members of your family. Li-Fraumeni syndrome (LFS) is a genetic condition that significantly increases the risk of developing many types of cancers. Cancers related to this condition may occur at any age, but there is a high risk for cancer occurring in childhood. It has been reported that over 40%…
Source: LFS Awareness MonthCategories: Genetics, Latest HeadlinesTweet-
Too few people know about #LiFraumeniSyndrome, often associated with #childhoodcancer #breastcancer & #rarecancer. Know your #cancergenetics through #genetictesting - #PutCancerToTheTest https://t.co/wBWVKpbrt8 https://t.co/UlDYf2kBma
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Mashup Score: 3Li-Fraumeni Syndrome Study - 2 year(s) ago
Li-Fraumeni Syndrome Study
Source: National Cancer InstituteCategories: Genetics, Latest HeadlinesTweet-
Today is #LiFraumeni Syndrome Awareness Day! Connect with @lfsassociation to learn more about LFS. #LFSAwareness #KnowYourGenes #LFSawarenessDay #Cancer #CancerGenetics #LFSAssociation https://t.co/RVKhmfAshz
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Mashup Score: 0Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing - 2 year(s) ago
Background PALB2 is the most important contributor to familial breast cancer after BRCA1 and BRCA2 . Large genomic rearrangements (LGRs) in BRCA1 and BRCA2 are routinely assessed in clinical testing and are a significant contributor to the yield of actionable findings. In contrast, the contribution of LGRs in PALB2 has not been systematically studied. Methods We performed targeted sequencing and…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
Many #PALB2 variants in familial #BreastCancer are SNVs/CNVs – Are we detecting them? #NewResearch here: https://t.co/sw5Ftw0qW1 #Cancer #CancerGenetics @UKCGG #Bioinformatics @CanGeneCanVar @clare__turnbull @BurghelG Funders: @NBCFAus @nhmrc @CancerVic Pic: @theNCI https://t.co/vrSlMVkPxU
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Online Genetic Education Programs May Spur Testing for Patients at Risk for Cancer https://t.co/e9fyIR3sja #cancer #genetics