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Diagnosis and Longitudinal Follow-up of Families with Possible Cancer Predisposition Syndromes

The purpose of this study is to find out information on the genetic makeup of cells in patients who may have a propensity to develop cancers, and to characterize the impact of mutations on both normal and cancer cells. This long-term study will allow researchers to track changes in the DNA of persons with Bloom syndrome and their biological parents.

The study is led by Dr. Vivian Chang, Co-Director of the UCLA Pediatric Cancer Predisposition Clinic. Dr. Chang has established a registry to maintain blood sample data taken each year from persons with Bloom syndrome and their parents, to gain information about how mutations in their genes change or accumulate over time. The belief is that persons with Bloom syndrome change or accumulate gene mutations at a more rapid rate than those in the general population, leading to cancer and/or other medical complications.

Blood sample kits are mailed to participants each year, and taken to a medical provider for sample collection. Samples are then mailed back with a prepaid mailing label. Annual observations of changes in DNA may be shared with study participants and communicated in a supportive environment to help patients understand their genetic risk for cancer.

The National Center for Advancing Translational Science (NIH-NCATS) and the Hyundai Hope on Wheels Organization are providing funding support for this study. To participate in the study or get more information, please contact Dr. Vivian Chang at vchang@mednet.ucla.edu or call 310.825.0867.

Chemotherapy and Treatment Outcomes in Bloom Syndrome

Persons with Bloom's syndrome are at higher risk of developing cancer in their lifetimes. The increased risk of cancer includes cancers of many different sites and types, and there is a shift toward younger age of diagnosis relative to the median cancer-specific age of diagnosis in the general population. Chemotherapeutic treatments of cancer in Bloom's syndrome must take into account hypersensitivities to DNA-damaging agents that are part of conventional cancer treatment regimens, which can result in severe destruction of bowel mucosa and the bone marrow. Specific dosage recommendations have not been possible, and more information regarding cancer treatment outcomes is needed.

Investigators at Radboud University Nijmegen Medical Centre in the Netherlands in cooperation with the Bloom Syndrome Foundation (Europe) have initiated a study to understand better the relationship between chemotherapy and treatment outcomes in Bloom's syndrome. These investigators are seeking medical records from Bloom's syndrome patients who have had a cancer diagnosis. The objective of the study is to optimize the treatment of cancer in Bloom's syndrome. To participate in this study or learn more about it, please contact the Bloom Syndrome Foundation (Europe) at info@bloomsyndrome.eu

Similar work is being conducted under the auspices of the Bloom's Syndrome Registry, where medical records from more than 250 persons with Bloom's syndrome have been assembled over the last 50 years and the natural history of the syndrome has been carefully chronicled.

BSA Blog

2016 Bianco Family's Fundraiser

Second annual fundraiser in memory of Vanessa Bianco and for the benefit of all individuals and families affected by Bloom’s syndrome. All proceeds from the 2016 campaign will go to Bloom’s Syndrome Association in support of its mission.

For more information and to make a donation, please visit the CrowdRise webpage for the 2016 Bianco Family's Fundraiser.

2017 Bianco Family's Fundraiser

Third annual fundraiser in memory of Vanessa Bianco and for the benefit of all individuals and families affected by Bloom’s syndrome. All proceeds from the 2017 campaign will go to Bloom’s Syndrome Association in support of its mission.

For more information and to make a donation, please visit the CrowdRise webpage for the 2017 Bianco Family's Fundraiser.

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