Sunday, October 03, 2010
"A new study from the Mayo clinic in the United States points to a frequent problem in certain types of medical research. When healthy volunteers or patients with a given condition take part in research studies they may have brain scans, CAT scans, blood tests or genetic tests that they wouldn’t otherwise have had. These tests are not done for the benefit of the individual, they are designed to answer a research question. But sometimes, quite often according to the authors of this new study, researchers may spot something on the scan that shouldn’t be there, and that could indicate a previously undiagnosed health condition. These ‘incidental findings’ generate an ethical dilemma for researchers....."cont'd
Perspective Towards a framework for personalized healthcare: lessons learned from the field of rare diseases
Increased risk of other cancers for relatives of women with early onset breast cancer | e! Science News
Published: Wednesday, September 29, 2010 - 18:23 in Health & Medicine
"The results suggest there could possibly be undiscovered genes causing breast cancer in these young women, and perhaps other cancers in their families," Professor Hopper said.
Every year in Australia, more than 300 women are diagnosed with breast cancer before the age of 35 years. This is approximately one in 40 of all breast cancers.
In the largest population based study of its kind, scientists studied 2200 parents and siblings of 500 women diagnosed with breast cancer before the age of 35 from across three countries, Australia, Canada and the United States.
After excluding families with mutations in BRCA1 and BRCA2, the two known major breast cancer susceptibility genes, they found that close relatives were at increased risk of not only breast cancer, but also of cancers of the prostate, lung, brain and urinary tract.
The results showed:
- Fathers and brothers had a 5-fold increased risk of prostate cancer.
- Mothers and sisters had a 2-fold increased risk of ovarian cancer as well as a 4-fold increased risk of breast cancer
- Close relatives also had a 3-fold increased risk for brain cancer, an 8-fold increased risk for lung cancer, and a 4-fold increased risk for urinary tract cancers.
"The results of this study could help scientists discover new cancer susceptibility genes that explain the risk of early-onset and other cancers within some families," he said.
"Our next step is to conduct larger studies to further clarify these results."
Note: click on 'pdf' for full free access to paper
abstract: Pancreatic Cancer Screening in a Prospective Cohort of High-Risk Patients: A Comprehensive Strategy of Imaging and Genetics — Clinical Cancer Research
Fifty-one patients in 43 families were enrolled, with mean age of 52 years, 35% of whom were male. Of these patients, 31 underwent EUS and 33 MRI. EUS revealed two patients with pancreatic cancer (one resectable, one metastatic), five with intraductal papillary mucinous neoplasms (IPMN), seven with cysts, and six with parenchymal changes. Five had pancreatic surgery (one total pancreatectomy for pancreatic cancer, three distal and one central pancreatectomy for pancreatic intraepithelial neoplasia 2 and IPMN).
A total of 24 (47%) had genetic testing (19 for BRCA1/2 mutations, 4 for CDKN2A, 1 for MLH1/MSH2) and 7 were positive for BRCA1/2 mutations. Four extrapancreatic neoplasms were found: two ovarian cancers on prophylactic total abdominal hysterectomy and bilateral salpingo-oophorectomy, one carcinoid, and one papillary thyroid carcinoma. Overall, 6 (12%) of the 51 patients had neoplastic lesions in the pancreas and 9 (18%) had neoplasms in any location. All were on the initial round of screening. All patients remain alive and without complications of screening.