domingo, 21 de enero de 2018

Liquid Biopsy Test Shows Promise for Detecting Early-Stage Colorectal Cancer | ASCO

Liquid Biopsy Test Shows Promise for Detecting Early-Stage Colorectal Cancer | ASCO



Liquid Biopsy Test Shows Promise for Detecting Early-Stage Colorectal Cancer

FOR IMMEDIATE RELEASE
January 16, 2018

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Alise Fisher
571-483-1354
Expert Perspective
“Screening for colorectal cancer can be life-saving, but Americans still lag behind Federal government screening goals because current screening options can be inconvenient and uncomfortable for patients. Though this research needs more investigation, a simple, accurate blood test could help increase screening rates, which could ultimately improve detection of colorectal cancers at earlier stages when treatment is most likely to be curative,” said Nancy Baxter, MD, ASCO Expert in gastrointestinal cancers.

Does Dietary Fat Combined With Genetic Factors Cause Prostate Cancer to Spread? | Front Line Genomics

Does Dietary Fat Combined With Genetic Factors Cause Prostate Cancer to Spread? | Front Line Genomics

Does Dietary Fat Combined With Genetic Factors Cause Prostate Cancer to Spread?

17 JAN 18
Megan HumphreyMegan Humphrey
The fat contained within the Western diet, in combination with genetic factors, can cause prostate cancer tumours to spread. 
Recent research, that appears in a set of papers published in the journals Nature Genetics and Nature Communications, shed new light on the complex interplay between our genes and dietary fat, as well as on the role of this dynamic in promoting the spread, or metastasis, of prostate cancer. 

RAS testing for colorectal cancer patients is reliable in European laboratories that pass external quality assessment. - PubMed - NCBI

RAS testing for colorectal cancer patients is reliable in European laboratories that pass external quality assessment. - PubMed - NCBI



 2018 Jan 15. doi: 10.1007/s00428-017-2291-z. [Epub ahead of print]

RAS testing for colorectal cancer patients is reliable in European laboratories that pass external quality assessment.

Abstract

Wild-type status of KRAS and the NRAS gene (exon 2, 3, and 4) in the tumor should be determined before treatment of metastatic colorectal cancer (mCRC) patients with EGFR-targeting agents. There is a large variation in test methods to determine RAS status, and more sensitive detection methods were recently introduced. Data from quality assessment programs indicate substantial error rates. This study assessed the completeness and correctness of RAS testing in European laboratories that successfully passed external quality assessment (EQA). Participants were requested to send material of their most recent ten patients with mCRC who had been tested for RAS status. Isolated DNA, a hematoxylin and eosin stained tissue slide with a marked area for macrodissection and accompanying patient reports were requested. Samples were reevaluated in a reference laboratory by using a next-generation sequencing approach. In total, 31 laboratories sent in the requested material (n = 309). Despite regulations for anti-EGFR therapy, one institute did not perform full RAS testing. Reanalysis was possible for 274 samples with sufficient DNA available. In the hotspot codons of KRAS and NRAS, seven discordant results were obtained in total, five of them leading to a different prediction of anti-EGFR therapy efficacy (2%; n = 274). Results show that oncologists can rely on the quality of laboratories with good performance in EQA. Oncologists need to be aware that the testing laboratory participates successfully in EQA programs. Some EQA providers list the good performing laboratories on their website.

KEYWORDS:

Biological markers; Colorectal neoplasms; Molecular pathology; Quality assurance; Reproducibility

PMID:
 
29333594
 
DOI:
 
10.1007/s00428-017-2291-z

TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children. - PubMed - NCBI

TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children. - PubMed - NCBI



 2018 Jan 4:JCO2017755215. doi: 10.1200/JCO.2017.75.5215. [Epub ahead of print]

TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children.

Abstract

Purpose Germline TP53 variation is the genetic basis of Li-Fraumeni syndrome, a highly penetrant cancer predisposition condition. Recent reports of germline TP53 variants in childhood hypodiploid acute lymphoblastic leukemia (ALL) suggest that this type of leukemia is another manifestation of Li-Fraumeni syndrome; however, the pattern, prevalence, and clinical relevance of TP53 variants in childhood ALL remain unknown. Patients and Methods Targeted sequencing of TP53 coding regions was performed in 3,801 children from the Children's Oncology Group frontline ALL clinical trials, AALL0232 and P9900. TP53 variant pathogenicity was evaluated according to experimentally determined transcriptional activity, in silico prediction of damaging effects, and prevalence in non-ALL control populations. TP53 variants were analyzed for their association with ALL presenting features and treatment outcomes. Results We identified 49 unique nonsilent rare TP53 coding variants in 77 (2.0%) of 3,801 patients sequenced, of which 22 variants were classified as pathogenic. TP53 pathogenic variants were significantly over-represented in ALL compared with non-ALL controls (odds ratio, 5.2; P < .001). Children with TP53 pathogenic variants were significantly older at ALL diagnosis (median age, 15.5 years v 7.3 years; P < .001) and were more likely to have hypodiploid ALL (65.4% v 1.2%; P < .001). Carrying germline TP53 pathogenic variants was associated with inferior event-free survival and overall survival (hazard ratio, 4.2 and 3.9; P < .001 and .001, respectively). In particular, children with TP53 pathogenic variants were at a dramatically higher risk of second cancers than those without pathogenic variants, with 5-year cumulative incidence of 25.1% and 0.7% ( P < .001), respectively. Conclusion Loss-of-function germline TP53 variants predispose children to ALL and to adverse treatment outcomes with ALL therapy, particularly the risk of second malignant neoplasms.

PMID:
 
29300620
 
DOI:
 
10.1200/JCO.2017.75.5215

Prospective blinded surveillance screening of Swedish women with increased hereditary risk of breast cancer. - PubMed - NCBI

Prospective blinded surveillance screening of Swedish women with increased hereditary risk of breast cancer. - PubMed - NCBI



 2018 Jan 9. doi: 10.1007/s10549-017-4639-0. [Epub ahead of print]

Prospective blinded surveillance screening of Swedish women with increased hereditary risk of breast cancer.

Abstract

PURPOSE:

To evaluate the sensitivity and specificity of different screening modalities in women with a family history of breast cancer.

METHODS:

Our blinded, prospective, comparative cohort analysis included three types of screening, mammography, ultrasound, and clinical breast examination once per year for 6 years. Eligible patients for this study were healthy women with ≥ 17% lifetime risk of breast cancer or with a mutation in BRCA1 or BRCA2.

RESULTS:

A total of 632 women were screened between 2002 and 2012 (each for 6 years). During the study, 30 women were diagnosed with breast cancer, with 10 of these diagnoses occurring between screening visits, and six of the 10 diagnosed women were gene carriers. The clinical presentation for the women diagnosed with breast cancer was followed until 2017. No consistent patterns for the diagnostic capacity of the different screening modalities were found, although mammography showed low sensitivity, whereas ultrasound showed better sensitivity in three of the six rounds. The specificity was high in mammography and improved in ultrasound over time. Most importantly, clinical breast examination provided no additional information toward the diagnosis of breast cancer.

CONCLUSION:

Neither mammography nor ultrasound performed yearly were sensitive enough as standalone modalities, although high specificity was confirmed. Our findings indicate that high risk (> 29% life time risk) individuals and gene carriers can be screened biannually, using the same protocol as used in mutation carriers. Our results also suggest that low-risk groups (< 20%) may continue to be referred to population mammography screening program, while clinical breast examination may be omitted in all risk groups, and could be optional in gene carriers.

KEYWORDS:

BRCA1; BRCA2; Hereditary breast cancer; Mammography; Prevention program; Surveillance; Ultrasound

PMID:
 
29318406
 
DOI:
 
10.1007/s10549-017-4639-0

All women over 30 should be tested for faulty cancer gene, researchers say

All women over 30 should be tested for faulty cancer gene, researchers say

Barts Cancer Institute research estimates around 83,000 cancers could be prevented if all women over 30 were screened.

DNA Sequencing Holds Some Promise For Treating Tumors : Shots - Health News : NPR

DNA Sequencing Holds Some Promise For Treating Tumors : Shots - Health News : NPR



For Now, Sequencing Cancer Tumors Holds More Promise Than Proof

Heard on Morning Edition
People diagnosed with cancer understandably reach for the very best that medical science has to offer. That motivation is increasingly driving people to ask to have the DNA of their tumors sequenced. And while that's useful for some malignancies, the hype of precision medicine for cancer is getting far ahead of the facts.