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Saturday, September 17, 2016
Hereditary breast and ovarian cancer: successful systematic implementation of a group approach to genetic counselling
abstract
The increase in referrals to cancer genetics clinics, partially associated with the “Angelina Jolie effect”, presents a challenge to existing services, many are already running at full capacity. More efficient ways to deliver genetic counselling are therefore urgently needed. We now systematically offer group instead of standard individual counselling to patients with suspected Hereditary Breast and Ovarian Cancer. Group sessions last 30 min. The first twenty consist of a presentation by the genetic counsellor, the next ten of a discussion involving a cancer geneticist and a psychologist. A short individual consultation ensues, where personal and family issues are addressed and consent obtained. Blood is drawn afterwards. Satisfaction and knowledge are evaluated. We report data for the Oct-2014–Aug-2015 period. 210 patients attended group counselling, up to eight simultaneously. We always fitted them within a 4-h time frame. Mean satisfaction score was 41/43. Knowledge scores increased from 3.1/6 to 4.9/6 post-counselling (p value < 2.2 × 10−16). Thanks to group counselling, we have withstood increases in referrals without compromising care. The “Angelina Jolie effect” and rapid developments in personalized medicine threaten to overwhelm cancer genetics clinics. In this context, our innovative approach should ensure that all patients have access to approved services.
The Impact of an Expanded Genetic Testing Program and Selective Oophorectomy on the Incidence of Ovarian Cancer in West Pomerania (Poland)
abstract:
The Impact of an Expanded Genetic Testing Program and Selective Oophorectomy on the Incidence of Ovarian Cancer in West Pomerania
The
aim of the study was to evaluate the impact of a regional
population-based genetic testing program on the incidence of ovarian
cancer in West Pomerania. Between 1999 and 2010, a total of 37,552 women
ages 35 to 70 were tested for three BRCA1 founder mutations at the
outpatient genetics clinic of the Pomeranian Medical University in
Szczecin, Poland. 641 women were found to carry a mutation (1.7%) and of
these, 220 had a prophylactic oophorectomy (34.3%).
12
women had an occult cancer diagnosed at the time of prophylactic
oophorectomy (5.5%). We estimate that 26 more ovarian cancers would have
been diagnosed by January 2015 in the absence of these oophorectomies
and that an additional 25 cancers will be prevented in the future (total
51). During this period, 1,611 ovarian cancers were diagnosed in the
region; therefore we estimate that approximately 1.6% of ovarian cancers
were prevented between 1999 and 2015 by our genetic testing program. We
conclude that the prophylactic oophorectomies performed between 1999
and 2010 as a result of widespread BRCA1 mutation testing have reduced
the incidence of ovarian cancer in Pomerania by a small amount (about
1.6%), and that the impact of genetic testing will increase in the
coming years.
(Lynch syndrome) Mismatch Repair Enzyme Expression in Primary and Castrate Resistant Prostate Cancer
open access
5. Conclusions
The absence of MLH1, MSH2, MSH6, and PMS2 protein and combinations thereof are frequent in PCa.
BRCA Share: A Collection of Clinical BRCA Gene Variants
abstract
As next generation sequencing
(NGS) increases access to human genetic variation, the challenge of
determining clinical significance of variants becomes ever more acute.
Germline variants in the BRCA1 and BRCA2 genes can
confer substantial lifetime risk of breast and ovarian cancer.
Assessment of variant pathogenicity is a critical part of clinical
genetic testing for these genes. A database of clinical observations of BRCA
variants is a critical resource in that process. This paper describes
BRCA Share™, a database created by a unique international alliance of
academic centers and commercial testing laboratories. By integrating the
content of the Universal Mutation Database (UMD) generated by the
French Unicancer Genetic Group (UGG) with the testing results of two
large commercial laboratories, Quest Diagnostics and Laboratory
Corporation of America (LabCorp), BRCA Share™ has assembled one of the
largest publicly accessible collections of BRCA variants
currently available. Although access is available to academic
researchers without charge, commercial participants in the project are
required to pay a support fee and contribute their data. The fees fund
the ongoing curation effort, as well as planned experiments to
functionally characterize variants of uncertain significance. BRCA
Share™ databases can therefore be considered as models of successful
data sharing between private companies and the academic world.
Update on Poly-ADP-ribose polymerase inhibition for ovarian cancer treatment xt
open access
Conclusion
This review will discuss the
different PARP inhibitors in development and the potential use of this
class of agents in the future. Moreover, combination strategies
involving PARP inhibitors are likely to receive increasing attention.
The utility of PARP inhibitors combined with cytotoxic chemotherapy is
of doubtful value, because of enhanced toxicity of this combination;
while, more promising strategies include the combination with
antiangiogenic agents, or with inhibitors of the P13K/AKT pathway and
new generation of immunotherapy.
Case Report/Review: Sister Mary Joseph Nodule as a First Manifestation of a Metastatic Ovarian Cancer
open access
3. Discussion
Umbilical tumors are rare and can be classified as benign or malignant. Benign causes include umbilical hernia, granuloma, abscess, mycosis, and eczema. Malignant tumors can be either primary or metastatic [2, 6].....In this case the final pathological diagnosis was an ovarian serous adenocarcinoma with intra-abdominal and thoracic metastases.....
Abstract
A 76-year-old female presented to our hospital with a 2 cm firm, nontender, protuberant umbilical nodule. She received treatment with antibiotics for suspected granuloma, with no improvement after two months. High levels of CA125 as well as an ovarian cyst and intrathoracic and intra-abdominal lesions on imaging studies made us suspect an ovarian cancer with a Sister Mary Joseph nodule (SMJN) and other metastases. A bilateral salpingo-oophorectomy and umbilical and omentum tumor resections were performed and a metastatic ovarian serous adenocarcinoma was diagnosed by histopathology. After surgery, the patient received chemotherapy with paclitaxel, carboplatin, and bevacizumab; however paclitaxel allergy was observed. As a result, chemotherapy continued with carboplatin and bevacizumab every three weeks for a total of 6 courses. Currently, she is still undergoing treatment with bevacizumab and CA125 levels have been progressively decreasing. SMJN is a rare umbilical metastasis which needs to be considered as a differential diagnosis in the presence of an umbilical tumor for prompt treatment initiation.
1. Introduction
Sister Mary Joseph nodule (SMJN) is a rare umbilical lesion resulting from an intra-abdominal and/or pelvic malignancy. It was named after Sister Mary Joseph, a surgical assistant to Dr. William J. Mayo, who noted the association between the presence of an umbilical nodule and an intra-abdominal malignancy [1]. Its incidence is 1%–3% of all intra-abdominal or pelvic malignancies [2]. Gastrointestinal malignancies, most commonly gastric, colon, and pancreatic, account for about 52% of cases and gynecological cancers, most commonly ovarian and uterine, account for about 28% of the underlying sources [3]. Also, 15–29% of all cases have an unknown origin [4]. The mechanism of tumor spread to the umbilicus is poorly understand as it seems to be lymphatic, vascular, contiguous, or via embryologic remnants in the abdominal wall [5].
Here, we present a case of SMJN as an ovarian cancer metastasis, its diagnosis, treatment and follow-up.....
References
H. Bailey, Demonstrations of Physical Signs in Clinical Surgery, Williams & Wilkins, Baltimore, Md, USA, 11th edition, 1949.
M. Palaniappan, W. M. Jose, A. Mehta, K. Kumar, and K. Pavithran, “Umbilical metastasis: a case series of four sister Joseph nodules from four different visceral malignancies,” Current Oncology, vol. 17, no. 6, pp. 78–81, 2010. View at Google Scholar · View at Scopus
Friday, September 16, 2016
Sept 16, 2016: Anti-tumor and Anti-angiogenic Effects of Aspirin-PC in Ovarian Cancer
Abstract
To
determine the efficacy of a novel and safer (for gastrointestinal
tract) aspirin (aspirin-PC) in preclinical models of ovarian cancer, in vitro dose-response studies were performed to compare the
growth-inhibitory effect of aspirin-PC vs. aspirin on 3 human (A2780,
SKOV3ip1, HeyA8), and a mouse (ID8) ovarian cancer cell line over an
8-day culture period. In the in vivo studies, the aspirin test drugs
were studied alone and in the presence of a VEGF-A inhibitor
(bevacizumab or B20), due to an emerging role for platelets in tumor
growth following anti-angiogenic therapy, and we examined their
underlying mechanisms. Aspirin-PC was more potent (vs. aspirin) in
blocking the growth of both human and mouse ovarian cancer cells in
monolayer culture. Using in vivo model systems of ovarian cancer, we
found that aspirin-PC significantly reduced ovarian cancer growth by
50-90% (depending on the ovarian cell line/density). The efficacy was
further enhanced in combination with Bevacizumab or B20. The
growth-inhibitory effect on ovarian tumor mass and number of tumor
nodules was evident, but less pronounced for aspirin and the VEGF
inhibitors alone. There was no detectable gastrointestinal toxicity.
Both aspirin and aspirin-PC also inhibited cell proliferation,
angiogenesis and increased apoptosis of ovarian cancer cells. In
conclusion, PC-associated aspirin markedly inhibits the growth of
ovarian cancer cells, which exceeds that of the parent drug, in both
cell culture and in mouse model systems. We also found that both
aspirin-PC and aspirin have robust anti-neoplastic action in the
presence of VEGF blocking drugs.
Ottawa Hospital’s chief ethicist terminated from job — but it’s unclear why (media)
media
...While bioethicists employed as professors in universities are protected by academic privilege, the same is not true for those who work for other institutions, and they may sometimes run afoul of senior administrators and donors, said Somerville, who is now a professor of bioethics at the University of Notre Dame Australia.
And yet an ethicist “can be the last barrier to something done wrong. They are the safeguard that everything is being done in an ethical way,” said Somerville, who is now a professor of bioethics at the University of Notre Dame Australia.
“When an ethicist is suddenly terminated with no warning and no cause given, and is known to be working in a very controversial area, then you have to know why they they have lost their job.”
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