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for further information regarding genetic capabilities and their applications in cancer please Contact BION. We are prepared to introduce latest genetic tests for cancer spanning from prevention to therapy.

Risk Factors for Early Breast Cancer

Certain risk factors increase the likelihood of women developing breast cancer at a younger age. If you are under 45, you might face an elevated risk of breast cancer if:

• You have close relatives who were diagnosed with breast cancer before age 45, especially if more than one relative was diagnosed or if a male relative had breast cancer.

• You or a close relative were diagnosed with ovarian cancer at any age.
• You have changes in certain breast cancer genes (BRCA1 and BRCA2), or have close relatives with these changes, but have not been tested yourself.
• You received radiation therapy to the breast or chest during childhood or early adulthood.
• You have had breast cancer or certain other breast health problems, such as lobular carcinoma in situ (LCIS), ductal carcinoma in situ (DCIS), atypical ductal hyperplasia, or atypical lobular hyperplasia.
• You have been told that you have dense breasts on a mammogram.

https://www.cdc.gov/cancer/breast

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The NCCN Guidelines for Colorectal Cancer Screening and Diagnosis have been developed to facilitate clinical decision making. This manuscript discusses the diagnostic evaluation of individuals with suspected colon cancer due to either abnormal imaging and/or physical findings. For colorectal cancer screening recommendations

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The purpose of the study was to assess the prognosis of HER2-positive metastatic breast cancer patients who received trastuzumab beyond progression and investigate the predictors of complete response. HER2-positive metastatic breast cancer patients who received long-term trastuzumab were included in the study. Predictors of complete response were analyzed with binary regression analysis. The prognosis of patients who had their trastuzumab-based treatment terminated was assessed. Eighty patients were involved in the study. The patients were received with trastuzumab for a median of 62 months (12–191). A complete response was observed in 60 (75%) patients. The median duration to development of complete response was found as 14.8 months (2.4–55). In logistic regression analysis: using endocrine therapy with trastuzumab (p = 0.04), menopausal status (p = 0.03), and the number of metastatic sites (p = 0.01) were found to be statistically significant factors for a complete response. Trastuzumab-based therapy of fifteen patients was terminated, six (40%) patients continued to receive an aromatase inhibitor, and nine (60%) patients were followed up without treatment. After termination of trastuzumab, at a median follow-up of 32 months (11–66), recurrence was detected in two (13.3%) patients. We detected that menopausal status, the number of metastatic sites, and using endocrine therapy with trastuzumab were predictors of complete response in HER2-positive metastatic breast cancer patients who received long-term trastuzumab-based therapy. We observed that HER2-positive metastatic breast cancer patients may be completely cured with trastuzumab-based therapy. There are no defined criteria for termination of trastuzumab treatment in this selected patient group. It is necessary to confirm our data with multicenter studies involving a large number of patients.

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Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories. Pathogenic variants in the FMR1 gene are associated with fragile X syndrome, fragile X–associated tremor ataxia syndrome (FXTAS), and fragile X–associated primary ovarian insufficiency (FXPOI). This document provides updated information regarding FMR1 pathogenic variants, including prevalence, genotype–phenotype correlations, and variant nomenclature. Methodological considerations are provided for Southern blot analysis and polymerase chain reaction (PCR) amplification of FMR1, including triplet repeat–primed and methylation-specific PCR.

The American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee has the mission of maintaining high technical standards for the performance and interpretation of genetic tests. In part, this is accomplished by the publication of the document ACMG Technical Standards for Clinical Genetics Laboratories, which is now maintained online (http://www.acmg.net). This subcommittee also reviews the outcome of national proficiency testing in the genetics area and may choose to focus on specific diseases or methodologies in response to those results. Accordingly, the subcommittee selected Fragile X syndrome to be the first topic in a series of supplemental sections, recognizing that it is one of the most frequently ordered genetic tests and that it has many alternative methods with different strengths and weaknesses. This document is the fourth update to the original standards and guidelines for fragile X testing that were published in 2001, with revisions in 2005 and 2013, respectively.

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At the forefront of cutting-edge medical research is the field of genetics. With the ability to analyze genetic data and develop personalized treatment plans, genetic laboratories play a vital role in advancing knowledge of genetic diseases and improving patient outcomes.

At our genetic laboratory, we are dedicated to making a difference in the lives of our patients. Using state-of-the-art equipment and the latest technologies, our team of experts is committed to analyzing genetic data and developing personalized treatment plans tailored to each patient’s unique genetic makeup.

We are passionate about what we do and believe that genetics will play a critical role in the future of healthcare. From identifying genetic risk factors to developing targeted therapies, genetics has the potential to revolutionize the way we approach healthcare.

We invite you to explore our laboratory and learn more about the work we do. 

Our exhibit at Open Health Day provided an opportunity to ask questions, gain insights, and discover innovative research and testing methods.

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Today, the U.S. Food and Drug Administration approved Zynteglo (betibeglogene autotemcel), the first cell-based gene therapy for the treatment of adult and pediatric patients with beta-thalassemia who require regular red blood cell transfusions. 

“Today’s approval is an important advance in the treatment of beta-thalassemia, particularly in individuals who require ongoing red blood cell transfusions,” said Peter Marks, M.D., Ph.D., director of the FDA’s Center for Biologics Evaluation and Research. “Given the potential health complications associated with this serious disease, this action highlights the FDA’s continued commitment to supporting the development of innovative therapies for patients who have limited treatment options.” 

Beta-thalassemia is a type of inherited blood disorder that causes a reduction of normal hemoglobin and red blood cells in the blood, through mutations in the beta-globin subunit, leading to insufficient delivery of oxygen in the body. The reduced levels of red blood cells can lead to a number of health issues including dizziness, weakness, fatigue, bone abnormalities, and more serious complications. Transfusion-dependent beta-thalassemia, the most severe form of the condition, generally requires life-long red blood cell transfusions as the standard course of treatment. These regular transfusions can be associated with multiple health complications of their own, including problems in the heart, liver, and other organs due to an excessive build-up of iron in the body. 

Zynteglo is a one-time gene therapy product administered as a single dose. Each dose of Zynteglo is a customized treatment created using the patient’s own cells (bone marrow stem cells) that are genetically modified to produce functional beta-globin (a hemoglobin component). 

The safety and effectiveness of Zynteglo were established in two multicenter clinical studies that included adult and pediatric patients with beta-thalassemia requiring regular transfusions. Effectiveness was established based on the achievement of transfusion independence, which is attained when the patient maintains a pre-determined level of hemoglobin without needing any red blood cell transfusions for at least 12 months. Of 41 patients receiving Zynteglo, 89% achieved transfusion independence.   

The most common adverse reactions associated with Zynteglo included reduced platelet and other blood cell levels, as well as mucositis, febrile neutropenia, vomiting, pyrexia (fever), alopecia (hair loss), epistaxis (nosebleed), abdominal pain, musculoskeletal pain, cough, headache, diarrhea, rash, constipation, nausea, decreased appetite, pigmentation disorder and pruritus (itch). 

There is a potential risk of blood cancer associated with this treatment; however, no cases have been seen in studies of Zynteglo. Patients who receive Zynteglo should have their blood monitored for at least 15 years for any evidence of cancer. Patients should also be monitored for hypersensitivity reactions during Zynteglo administration and should be monitored for thrombocytopenia and bleeding. 

This application was granted a rare pediatric disease voucher, in addition to receiving Priority Review, Fast Track, Breakthrough Therapy, and Orphan designations.

The FDA granted approval for Zynteglo to bluebird bio, Inc.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines, and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation’s food supply, cosmetics, dietary supplements, and products that give off electronic radiation, and for regulating tobacco products.

Source: U.S. Food and Drug Administration

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Life can change dramatically when someone learns they are genetically predisposed to a disease, such as a condition called familial hypercholesterolemia, where a mutated gene can lead to elevated cholesterol and increased risk for a premature heart attack. But these kinds of disease predictions are complicated: not everyone carrying such high-risk single-gene variants develops the disease.

Now, researchers at the Broad Institute of MIT and Harvard, Massachusetts General Hospital (MGH), and Harvard Medical School, in partnership with IBM Research and health technology company Color, have discovered a possible reason why. They studied genetic and clinical data from more than 80,000 people and found that a person’s genetic background influences not only the risk of heart disease in people carrying familial hypercholesterolemia gene variants, but also the risks of breast cancer and colorectal cancer in individuals with high-risk single-gene variants that predispose them to these diseases.

Moreover, the team discovered that for some people with these high-risk single-gene variants, having a low polygenic score—which accounts for the small contributions from many common genetic variants for disease spread throughout the genome—could lower their risk of disease, bringing it closer to the population average.

These findings, published in Nature Communications, have both biological and clinical implications. They help explain why some genetically predisposed individuals do not develop disease, and also suggest ways to more accurately interpret patients’ genetic risk of disease. Eventually, insight from this study could guide more informed decision-making and genetic counseling in clinical practice—for example, to more accurately identify patients who should undergo more frequent disease screenings.

“Patients and clinicians often assume that having a high-risk variant makes eventually getting the disease all but inevitable, but an important subset actually go on to live their lives normally,” said Akl Fahed, co-first author of the study, who is a cardiology fellow at MGH, and a postdoctoral fellow in Broad’s Program in Medical and Population Genetics (MPG). “The traditional approach is to focus on a single base pair mutation linked to disease, but there are 3 billion base pairs in the genome. So we asked whether the rest of your genome can help explain the differing rates of disease we see in these patients, and the answer was a clear yes.”

Minxian Wang of the Broad and Julian Homburger of Color were the other first co-authors of the study.

Polygenic power

The study focused on three diseases: familial hypercholesterolemia, where single-gene variants prevent the body from clearing cholesterol from the bloodstream, elevating heart disease risk; Lynch syndrome, where a fault in DNA-repair genes often leads to colorectal cancer; and hereditary breast cancer, caused by defects in the BRCA1 or BRCA2 genes. Most individuals and families with these high-risk variants remain unaware of their inborn risk, and they can not be reliably identified through family history or other risk factors (detailed in a companion publication).

The researchers analyzed genetic and clinical information from 80,298 individuals—including 61,664 UK Biobank participants and 19,264 women tested for breast cancer high-risk variants by Color. They looked for people with a particular high-risk variant, calculated their polygenic score for the disease, and then ascertained if the individual developed disease or not through their medical records.

“In trying to do these kinds of studies in the past, there were two main barriers,” said senior author Amit V. Khera, a physician-scientist leading a research group in the Center for Genomic Medicine at MGH and associate director of the Broad MPG. “You needed very large datasets of participants with and without high-risk variants, and you needed high-quality polygenic scores calculated in these people to quantify their genetic background. The genetics community is only now beginning to have access to these key tools.”

The team found that for a small subset of people with a high-risk single-gene, or ‘monogenic,’ variant for disease, a high polygenic score more than doubled their overall disease risk, from an estimated average of 35 to 41 percent up to 80 percent.

For example, the researchers estimated an individual’s risk of developing heart disease by the age of 75 and analyzed the impact of their monogenic variants and polygenic background, and computed risks as low as 17 percent in those with a high-risk variant but low polygenic scores. But those with a high-risk variant and high polygenic score had a disease risk as high as 78 percent.

This risk gradient for those with high-risk variants ranged from 13 to 76 percent in breast cancer and 11 to 80 percent in colorectal cancer. But in all three diseases, a favorable polygenic background lowered disease risk, bringing it closer to that of an average person without the high-risk variant.

“The changes in risk are striking,” Khera noted. “For breast cancer, whether a woman’s risk is 13 percent or 76 percent may be very important in terms of whether she chooses to get a mastectomy or undergo frequent screening via imaging. Also, for Lynch syndrome, a more precise risk estimate could similarly be a deciding factor for removing the colon entirely or frequent screening colonoscopies.”

These findings are consistent with previous studies, including one that focused on a large cohort of individuals with high-risk variants for breast cancer, and another that analyzed complex traits, such as height or cholesterol levels, in patients in a health care system. More recently, a separate report from Broad researchers also extended this interplay between polygenic and monogenic risk to blood traits and diseases—indicating that the concept is applicable across human conditions.

Tools for genome interpretation

This study also provides the scientific foundation for a new approach for assessing disease risk, where accounting for genetic background increases accuracy of risk estimation, even for those with a high-risk variant. Beyond genetic factors, the researchers plan to build models accounting for additional non-genetic factors that are also associated with disease risk.

“We studied the interplay of monogenic and polygenic disease risk,” Fahed said. “But genetics is only part of the story. For heart disease, risk involves other factors like blood pressure and lifestyle risks such as smoking. It is important to account for these as well and develop more fully integrated risk models.”

As polygenic scores and disease risk models make their way into routine medical practice, the researchers say these powerful clinical tools can empower patients to better understand, predict, and prevent disease using genetic information—an idea that Khera is already implementing in MGH’s Preventive Genomics Clinic, which he co-founded. This fall, the clinic will begin offering a clinical test developed by Color that assesses both monogenic and polygenic risk for heart disease.

“We are thrilled to be able to offer state-of-the-art genetic risk assessment to our patients in the coming months. One of our next steps is to educate doctors and patients on more advanced types of genetic risk predictors, such as polygenic scores,” Khera said. “But there’s also important work to be done to further validate integrated genetic risk models in additional populations. The ability to reliably classify monogenic variants as high-risk and stratify the population using polygenic scores is higher in people of European ancestry than other groups, just because that is where most of our training data comes from. So, we need to diversify datasets and improve the models so that they work well for people from different ancestries, ensuring that genomic risk stratification benefits everyone.”

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