Blogger's Note: new website/venture (aka. at your own risk)
The HEROIC Registry, Hereditary Cancer Research Champions
“If other Lynch patients are like me they will want their data shared with researchers to get a better understanding of how to manage their condition and get involved with research studies and clinical trials,” David Dubin, founder of AliveAndKickn and three-time Lynch cancer survivor, said in the press release. “This registry will enable me as a patient to truly make a difference in the research of this condition.”The registry will enable researchers to utilize patient data in their efforts to better understand the mutations, perform clinical trials and develop new treatments, according to the press release. Patients will have control over what data are provided.
Requests for rapid access to agents still under investigation fall into 2 categories—requests for groups of persons with the same disease and requests by individuals. The former are often described as requests for expanded access, the latter as requests for compassionate use. Regulatory bodies in various countries have created various programs for providing greater access to requests from groups, including the creation of expanded-access programs and emergency use waivers for patients who do not qualify for clinical trials. Compassionate use requests have proven to be more difficult to resolve.
The use of real-world evidence is critical to transforming health care, and policies need to address this issue. Although the availability of multiple standards/guidelines has the potential to improve the quality and credibility of observational studies, there may be unintended consequences. If those guidelines differ from one another, decisions based on one guideline may subsequently be found deficient if measured against a different one.
The diagnosis of Lynch syndrome is essential since the patient has a high risk for developing many other cancers and needs appropriate surveillance.
"Descriptions of the identity of these genes and their frequency was lacking in the medical literature," Dr. DiSilvestro explains. "The goal of this research was to better define these issues."
More than 1,900 women with ovarian cancer who were identified through the University of Washington gynecologic tissue bank and from various GOG clinical trials made up the study population.
What the evaluations revealed was that 18 percent of the women with ovarian cancer carried mutations in genes associated with ovarian cancer risk beyond the BRCA1 and BRCA2 genes.Journal Reference:
Conclusions and Relevance Of 1915 patients with OC, 347 (18%) carried pathogenic germline mutations in genes associated with OC risk. PALB2 and BARD1 are suspected OC genes and together with established OC genes (BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, MSH2, MLH1, PMS2, and MSH6) bring the total number of genes suspected to cause hereditary OC to 11.
The lifetime risk of developing MBC has been estimated to be in the range of 1–5 % for BRCA1 and 5–10 % for BRCA2 mutation carriers, compared with a risk of 0.1 % in the general population [6–9].
Dr. Lucy Gilbert, chief of the MUHC’s gynecologic-oncology division and one of the signatories of the letter, said that under the proposal, the Women’s Health Mission would likely be split between the departments of pediatrics and surgery in the hope of saving up to $12 million a year.
So who is actually articulating these superlatives?
Mostly, it is journalists (55% of all the superlatives used, with no other attribution). Then, in order of frequency, it is physicians (27%), industry experts (9%), patients (8%), and a member of the US Congress (1%).
Yet, quite remarkably, despite extensively reported and validated data regarding objectively impressive improvements in both the quality and quantity of life for individuals diagnosed with advanced or metastatic cancers, these facts do not appear to have reached the consciousness of the entire medical establishment.
Observing that there were few referrals for GI cancers during the interim analysis of this study, the researchers set out to quantify the extent of the problem. In an analysis of 500 patients, almost twice as many patients received genetic testing for a primary workup of HBOC as for a workup of GI cancer syndromes (66.4% vs. 28.8%). Although newly diagnosed colorectal and gastric cancer constituted 42% of the approximately 1,798 new diagnoses of all breast, ovarian, colorectal and GI cancers at the three centers, only 29% of the tests were ordered for GI indications.
It is very important to understand that inherited genetic risk variants, whether common or rare, with low or high penetrance, are neither necessary nor sufficient for glioma formation – rather, they contribute to risk. Even for people with familial syndromes, additional acquired mutations are required for tumorigenesis. Moreover, not everyone who inherits the same mutation necessarily develops cancer or the same type of cancer.Understanding inherited genetic risk of adult glioma – a review
Rare hereditary cancer syndromes that increase risk of glioma
Radical nephroureterectomy with en bloc bladder cuff excision and regional lymphadenectomy is the gold standard for the management of high-grade and high-risk upper tract urothelial carcinomas (UTUC). There are few prospective randomized controlled studies in this uncommon and often aggressive disease to support level-1 management guidelines. However, recent developments in imaging, minimally invasive techniques, lymphatic dissemination, and bladder cancer prevention raise the hope for improved risk stratification and treatments without compromising, and hopefully improving, oncological outcomes. Multi-modality approaches in terms of neoadjuvant, adjuvant topical and systemic chemotherapeutic regimens are promising, with 2 prospective trials either open or in development.