Sunday, March 20, 2011
CureToday.com: Spring 2011 Article - "Breaking Out of the Silence"
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curetoday
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magazine article
Genetics of Breast and Ovarian Cancer (PDQ®) - NCI - rare syndrome (LFS, Cowden, PJS)
Other Rare Breast and Ovarian Cancer-Associated Syndromes
Li-Fraumeni syndrome
Cowden syndrome
Peutz-Jeghers syndrome
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Cowden Syndrome
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Li-Fraumeni syndrome
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Peutz-Jeghers Syndrome
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rare genetic syndromes
NIH Video Casting Event Summary - Li-Fraumeni Syndrome (LFS) Workshop - 2010 scientists/physicians/families
video meeting/serves as a starting point for the creation of a LFS research consortium.
Author: NIH Office of Rare Disease and the National Cancer Institute
Runtime: 05:31:06
Download: Download Video
How to download a Videocast
CIT File ID: 16253
CIT Live ID: 9741
Permanent link: http://videocast.nih.gov/launch.asp?16253
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LFS
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Li-Fraumeni syndrome
Commentary MJA Insight: Henry Woo: Abuse of self-pay patient system widespread (ethics)
Note: sound familiar?
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"....Sadly, the abuse of the self-pay system is widespread in the NSW public hospital system. We may be aware that it is happening, but nothing will change unless patients complain, and this is hardly likely.
Surgeons who aren’t happy with this arrangement appear unwilling to come forward in fear of political retribution, professional isolation and stymied career progression.
If we were to abolish self-pay, would we risk throwing the baby out with the bathwater? We have to balance the risks to our professional standing, our inability to regulate this behaviour and the financial risks to those who can least afford it against the risk of removing patient choice.
I would like to see this practice abolished, but if we cannot speak out about this when it involves unethical behaviour, the balance is heavily tilted against ever eradicating the self-pay system in our public hospitals."
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clincial trials mailing list healthcare professionals
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ethics
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governments
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health care system
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medicare
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self-pay
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system abuses
Validation of the Histologic Grading for Ovarian Clear Cell Adenocarcinoma: A Retrospective Multi-institutional Study by the Japan Clear Cell Carcinoma Study Group
Abstract
"Pathologic slides from 150 patients with clear cell adenocarcinoma from the collaborating institutions were reviewed independently by 2 pathologists, and each tumor was graded histologically using the Shimizu-Silverberg and International Federation of Gynecology and Obstetrics (FIGO) grading systems...................... These results suggest that the 2 tested grading systems have limited value for the prognostication of patients with clear cell adenocarcinoma, and that a more effective grading system for this tumor may be required."
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clear cell
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grading systems
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Japan
Intll Jnl of Oncology: Ganoderma lucidum (herbal mushrooms) exerts anti-tumor effects on ovarian cancer cells and enhances their sensitivity to cisplatin (York University Toronto)
"Ganoderma lucidum is a herbal mushroom known to have many health benefits, including the inhibition of tumor cell growth. However, the effect of Ganoderma lucidum on epithelial ovarian cancer (EOC), the most fatal gynecological malignancy, has not yet been reported...................... Taken together, these findings suggest that Ganoderma lucidum exerts multiple anti-tumor effects on ovarian cancer cells and can enhance the sensitivity of EOC cells to cisplatin." |
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Ganoderma lucidum
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herbal mushrooms
abstract: Genomic Analysis Reveals the Molecular Heterogeneity of Ovarian Clear Cell Carcinomas
CONCLUSIONS:
OCCCs constitute a heterogeneous disease at the genomic level despite having similar histological features. The pattern of genomic aberrations in subgroups of OCCCs is of clinical significance.
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clear cell ovarian cancer
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genomics
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histology
abstract: Mutation and Loss of Expression of ARID1A in Uterine Low-grade Endometrioid Carcinoma
Abstract:
ARID1A is a recently identified tumor suppressor gene that is mutated in approximately 50% of ovarian clear cell and 30% of ovarian endometrioid carcinomas. The mutation is associated with loss of protein expression as assessed by immunohistochemistry.
In this study, we evaluated ARID1A immunoreactivity in a wide variety of carcinomas to determine the prevalence of ARID1A inactivation in carcinomas. Mutational analysis of ARID1A was carried out in selected cases. Immunoreactivity was not detected (corresponding to inactivation or mutation of ARID1A) in 36 (3.6%) of 995 tumors.
Uterine low-grade endometrioid carcinomas showed a relatively high-frequency loss of ARID1A expression, as 15 (26%) of 58 cases were negative. The other tumor that had a relatively high-frequency loss of ARID1A expression was gastric carcinoma (11%). Mutational analysis showed 10 (40%) of 25 uterine endometrioid carcinomas; none of 12 uterine serous carcinomas and none of 56 ovarian serous and mucinous carcinomas harbored somatic ARID1A mutations. All mutations in endometrioid carcinomas were nonsense or insertion/deletion mutations, and tumors with ARID1A mutations showed complete loss or clonal loss of ARID1A expression.
In conclusion, this study is the first large-scale analysis of a wide variety of carcinomas showing that uterine low-grade endometrioid carcinoma is the predominant tumor type harboring ARID1A mutations and frequent loss of ARID1A expression. These findings suggest that the molecular pathogenesis of low-grade uterine endometrioid carcinoma is similar to that of ovarian low-grade endometrioid and clear cell carcinoma, tumors that have previously been shown to have a high-frequency loss of expression and mutation of ARID1A.
ARID1A is a recently identified tumor suppressor gene that is mutated in approximately 50% of ovarian clear cell and 30% of ovarian endometrioid carcinomas. The mutation is associated with loss of protein expression as assessed by immunohistochemistry.
In this study, we evaluated ARID1A immunoreactivity in a wide variety of carcinomas to determine the prevalence of ARID1A inactivation in carcinomas. Mutational analysis of ARID1A was carried out in selected cases. Immunoreactivity was not detected (corresponding to inactivation or mutation of ARID1A) in 36 (3.6%) of 995 tumors.
Uterine low-grade endometrioid carcinomas showed a relatively high-frequency loss of ARID1A expression, as 15 (26%) of 58 cases were negative. The other tumor that had a relatively high-frequency loss of ARID1A expression was gastric carcinoma (11%). Mutational analysis showed 10 (40%) of 25 uterine endometrioid carcinomas; none of 12 uterine serous carcinomas and none of 56 ovarian serous and mucinous carcinomas harbored somatic ARID1A mutations. All mutations in endometrioid carcinomas were nonsense or insertion/deletion mutations, and tumors with ARID1A mutations showed complete loss or clonal loss of ARID1A expression.
In conclusion, this study is the first large-scale analysis of a wide variety of carcinomas showing that uterine low-grade endometrioid carcinoma is the predominant tumor type harboring ARID1A mutations and frequent loss of ARID1A expression. These findings suggest that the molecular pathogenesis of low-grade uterine endometrioid carcinoma is similar to that of ovarian low-grade endometrioid and clear cell carcinoma, tumors that have previously been shown to have a high-frequency loss of expression and mutation of ARID1A.
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ARID1A
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clear cell
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endometrial
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endometrioid
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gene expression
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high grade serous
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low grade
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mutations
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pathology
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uterine
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