Health Life

New model of breast cancer’s causes developed

Three-dimensional culture of human breast cancer cells, with DNA stained blue and a protein in the cell surface membrane stained green. Image created in 2014 by Tom Misteli, Ph.D., and Karen Meaburn, Ph.D. at the NIH IRP.

A new model of the causes of breast cancer, created by a team led by researchers at UC San Francisco, Genentech and Stanford University, is designed to capture the complex interrelationships between dozens of primary and secondary breast cancer causes and stimulate further research.

Breast is the most common cancer in women, with an estimated 268,600 new cases and 41,760 deaths in the United States in 2019.

“Even though cancer can be treated successfully if caught early, we’re looking for the best ways to prevent it in the first place,” said lead author Robert A. Hiatt, MD, Ph.D., UCSF professor of epidemiology and biostatistics and associate director for population science at the UCSF Helen Diller Family Comprehensive Cancer Center.

“This weighs what we currently know about the relationships and potential interactions between factors that individual women can control—such as drinking alcohol, and overweight and obesity—and areas of public health policy that affect how people are influenced by ,” Hiatt said. “It illustrates the dynamic and sometimes unexpected ways in which the many different causes of breast cancer interact with and influence one another.”

The model, published on July 8, 2020 in Cancer Epidemiology, Biomarkers and Prevention, a journal of the American Association for Cancer Research, includes biological variables such as age, breast density and genetics as well as physical risk factors such as exposure to carcinogenic chemicals, radiation and second-hand smoke.

Overall, the model, called Paradigm II, illustrates 96 potential interactions between biological, behavioral, social and physical domains of breast cancer causation.

The model

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Cancer Immunotherapy: MedlinePlus

Immunotherapy is a cancer treatment that helps your immune system fight cancer. It is a type of biological therapy. Biological therapy uses substances that are made from living organisms, or versions of these substances that are made in a lab.

Doctors don’t yet use immunotherapy as often as other cancer treatments, such as surgery, chemotherapy, and radiation therapy. But they do use immunotherapy for some types of cancer, and researchers are doing clinical trials to see whether it also works for other types.

When you have cancer, some of your cells begin to multiply without stopping. They spread into the surrounding tissues. One reason that the cancer cells can keep growing and spreading is that they are able to hide from your immune system. Some immunotherapies can “mark” your cancer cells. This makes it easier for your immune system to find and destroy the cells. It is a type of targeted therapy, which uses drugs or other substances that attack specific cancer cells with less harm to normal cells. Other types of immunotherapies work by boosting your immune system to work better against cancer.

You could get immunotherapy intravenously (by IV), in pills or capsules, or in a cream for your skin. For bladder cancer, they might place it directly into your bladder. You may have treatment every day, week, or month. Some immunotherapies are given in cycles. It depends on your type of cancer, how advanced it is, the type of immunotherapy you get, and how well it is working.

You may have side effects. The most common side effects are skin reactions at the needle site, if you get it by IV. Other side effects may include flu-like symptoms, or rarely, severe reactions.

NIH: National Cancer Institute

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Metabolomics meets genomics to improve patient diagnosis

Scientists document and analyze research findings to solve medical mysteries. Credit: NIH.

A patient and family walk into a doctor’s office. They hope that the latest tests will reveal what is causing the patient’s illness and end the diagnostic odyssey they have been going through for years. Having an accurate diagnosis also means that maybe there is a treatment that at least can alleviate the patient’s condition.

At Baylor College of Medicine, Dr. Sarah Elsea and her colleagues have been working on improving their ability to identify the genetic cause of undiagnosed conditions. Their study appears in the journal Genetics in Medicine.

“About nine of every 10 patients that are referred to us have neurological conditions, such as and , for which they don’t have a ,” said Elsea, professor of molecular and human genetics at Baylor and corresponding author of the work.

To identify the genetic cause of undiagnosed conditions, the researchers look for potentially in the patient’s genome. They use whole-exome sequencing, which analyzes all the that encode proteins. A gene may have many variants that encode slightly different versions of the same that still carry their function normally. But some variants may encode defective proteins that can cause . The challenging part is determining whether the variant of a particular gene that is found in a patient is causing the disease.

“In some cases, the variant is missing all or a large portion of the gene, which results in a non-functional protein. This suggests that the variant is involved in the disease. However, most genetic variants involve changes in a single building block of the DNA. That one ‘misspelled’ gene sequence may or may not result in a defective or less functional protein, and we need

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Snijders Blok-Campeau syndrome – Genetics Home Reference

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Erratum in: Nat Commun. 2019 Feb 15;10(1):883. Nat Commun. 2019 May 2;10(1):2079.

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