domingo, 13 de agosto de 2017

Massive study launched to test personalized approach to breast cancer screening | University of California

Massive study launched to test personalized approach to breast cancer screening | University of California



Massive study launched to test personalized approach to breast cancer screening

BRCA population screening for predicting breast cancer: for or against?

BRCA population screening for predicting breast cancer: for or against?









BRCA population screening for predicting breast cancer: for or against?

Cancer at Baseline Screening in Patients With Li-Fraumeni Syndrome - The ASCO Post

Cancer at Baseline Screening in Patients With Li-Fraumeni Syndrome - The ASCO Post



Cancer at Baseline Screening in Patients With Li-Fraumeni Syndrome

Surveillance of Dutch Patients With Li-Fraumeni Syndrome: The LiFe-Guard Study. - PubMed - NCBI

Surveillance of Dutch Patients With Li-Fraumeni Syndrome: The LiFe-Guard Study. - PubMed - NCBI



 2017 Aug 3. doi: 10.1001/jamaoncol.2017.1346. [Epub ahead of print]

Surveillance of Dutch Patients With Li-Fraumeni Syndrome: The LiFe-Guard Study.


PMID:
 
28772294
 
DOI:
 
10.1001/jamaoncol.2017.1346

Cancer Genetic Counseling and Testing: Perspectives of Epithelial Ovarian Cancer Patients and Gynecologic Oncology Healthcare Providers. - PubMed - NCBI

Cancer Genetic Counseling and Testing: Perspectives of Epithelial Ovarian Cancer Patients and Gynecologic Oncology Healthcare Providers. - PubMed - NCBI



 2017 Aug 7. doi: 10.1007/s10897-017-0135-2. [Epub ahead of print]

Cancer Genetic Counseling and Testing: Perspectives of Epithelial Ovarian Cancer Patients and Gynecologic Oncology Healthcare Providers.

Abstract

Multi-gene panel testing has expanded the genetic information available to cancer patients. The objective was to assess provider behaviors and attitudes and patient knowledge and attitudes towards genetic counseling and testing. An online survey was distributed to Society of Gynecologic Oncology members and a written questionnaire was administered to patients diagnosed with epithelial ovarian cancer at a tertiary care referral center. Most of the 233 (18% response rate) provider respondents were gynecologic oncologists. Access to a genetic counselor was reported by 87% of providers and 55% deferred all testing to genetic counselors. Of 53 ovarian cancer patient respondents, two-thirds had previously seen a genetic counselor or undergone testing. Patients' attitudes about genetic counseling and/or testing were favorable with respect to themselves (70-81%) and their family members (94%). Less than 25% of patients indicated worrying about health care discrimination, lack of privacy, or high cost. Seventy-seven percent of patients demonstrated a desire to obtain genetic information even if the results were not currently actionable, and 20% of providers stated they test for only those genes with guideline-supported actionable results. Provider practice differences were identified in screening and prevention strategies for patients with deleterious non-BRCA mutations and variants of uncertain significance. The variation in clinical interpretation of results associated with poorly defined cancer risks signals a need for more comprehensive training and guidelines to ensure access to evidence-based care.

KEYWORDS:

Genetic counseling; Genetic testing; Moderate penetrance gene; Ovarian cancer; Panel testing; Variant of uncertain significance

PMID:
 
28785836
 
DOI:
 
10.1007/s10897-017-0135-2

Advances in the diagnosis of hereditary kidney cancer: Initial results of a multigene panel test. - PubMed - NCBI

Advances in the diagnosis of hereditary kidney cancer: Initial results of a multigene panel test. - PubMed - NCBI



 2017 Aug 8. doi: 10.1002/cncr.30893. [Epub ahead of print]

Advances in the diagnosis of hereditary kidney cancer: Initial results of a multigene panel test.

Abstract

BACKGROUND:

Panel testing has been recently introduced to evaluate hereditary cancer; however, limited information is available regarding its use in kidney cancer.

METHODS:

The authors retrospectively reviewed test results and clinical data from patients who underwent targeted multigene panel testing of up to 19 genes associated with hereditary kidney cancer from 2013 to 2016. The frequency of positive (mutation/variant likely pathogenic), inconclusive (variant of unknown significance), and negative results was evaluated. A logistic regression analysis evaluated predictive factors for a positive test.

RESULTS:

Patients (n = 1235) had a median age at diagnosis of 46 years, which was significantly younger than the US population of individuals with kidney cancer (P < .0001). Overall, 6.1%, 75.5%, and 18.4% of individuals had positive, negative, and inconclusive results, respectively. The most commonly altered genes included folliculin (FLCN) and fumarate hydratase (FH), which were altered in 1.8% and 1.3% of patients, respectively. Tuberous Sclerosis Complex 2 (TSC2), mesenchymal epithelial transition factor proto-oncogene (MET), and PMS1 homolog 2 (PMS2) had the highest rates of variants of unknown significance, which were identified in 2.7%, 2.2%, and 1.7% of patients, respectively. Early age of onset was the only factor that was identified as predictive of a positive test on multivariate analysis (odds ratio, 0.975; P = .0052) and may be the only identifying characteristic of low-penetrant syndromes, such as those associated with MITF (melanogenesis-associated transcription factor) mutations, which do not have singular histology or a family history of kidney cancer.

CONCLUSIONS:

Panel tests may be particularly useful for patients who lack distinguishing clinical characteristics of known hereditary kidney cancer syndromes. The current results support the use of early age of onset for genetic counseling and/or testing. Cancer 2017. © 2017 American Cancer Society.

KEYWORDS:

age of onset; early diagnosis; genetic testing; hereditary; kidney neoplasms; neoplastic syndromes

PMID:
 
28787086
 
DOI:
 
10.1002/cncr.30893

Telomeres and telomerase in prostate cancer development and therapy. - PubMed - NCBI

Telomeres and telomerase in prostate cancer development and therapy. - PubMed - NCBI



 2017 Jul 4. doi: 10.1038/nrurol.2017.104. [Epub ahead of print]

Telomeres and telomerase in prostate cancer development and therapy.

Abstract

Aberrations in telomere biology are among the earliest events in prostate cancer tumorigenesis and continue during tumour progression. Substantial telomere shortening occurs in prostate cancer cells and high-grade prostatic intraepithelial neoplasia. Not all mechanisms of telomere shortening are understood, but oxidative stress from local inflammation might accelerate prostatic telomere loss. Critically short telomeres can drive the accumulation of tumour-promoting genomic alterations; however, continued telomere erosion is unsustainable and must be mitigated to ensure cancer cell survival and unlimited replication potential. Prostate cancers predominantly maintain telomeres by activating telomerase, but alternative mechanisms of telomere extension can occur in metastatic disease. Telomerase activity and telomere length assessment might be useful in prostate cancer diagnosis and prognosis. Telomere shortening in normal stromal cells has been associated with prostate cancer, whereas variable telomere lengths in prostate cancer cells and telomere shortening in cancer-associated stromal cells correlated with lethal disease. Single-agent telomerase-targeted treatments for solid cancers were ineffective in clinical trials but have not been investigated in prostate cancer and might be useful in combination with established regimens. Telomere-directed strategies have not been explored as extensively. Telomere deprotection strategies have the advantage of being effective in both telomerase-dependent and telomerase-independent cancers. Disruption of androgen receptor function in prostate cancer cells results in telomere dysfunction, indicating telomeres and telomerase as potential therapeutic targets in prostate cancer.

PMID:
 
28675175
 
DOI:
 
10.1038/nrurol.2017.104