Advertisements
Feeds:
Posts
Comments

Archive for the ‘Cancer – General’ Category


Reporter and Curator: Dr. Sudipta Saha, Ph.D.

 

A mutated gene called RAS gives rise to a signalling protein Ral which is involved in tumour growth in the bladder. Many researchers tried and failed to target and stop this wayward gene. Signalling proteins such as Ral usually shift between active and inactive states.

 

So, researchers next tried to stop Ral to get into active state. In inacvtive state Ral exposes a pocket which gets closed when active. After five years, the researchers found a small molecule dubbed BQU57 that can wedge itself into the pocket to prevent Ral from closing and becoming active. Now, BQU57 has been licensed for further development.

 

Researchers have a growing genetic data on bladder cancer, some of which threaten to overturn the supposed causes of bladder cancer. Genetics has also allowed bladder cancer to be reclassified from two categories into five distinct subtypes, each with different characteristics and weak spots. All these advances bode well for drug development and for improved diagnosis and prognosis.

 

Among the groups studying the genetics of bladder cancer are two large international teams: Uromol (named for urology and molecular biology), which is based at Aarhus University Hospital in Denmark, and The Cancer Genome Atlas (TCGA), based at institutions in Texas and Boston. Each team tackled a different type of cancer, based on the traditional classification of whether or not a tumour has grown into the muscle wall of the bladder. Uromol worked on the more common, earlier form, non-muscle-invasive bladder cancer, whereas TCGA is looking at muscle-invasive bladder cancer, which has a lower survival rate.

 

The Uromol team sought to identify people whose non-invasive tumours might return after treatment, becoming invasive or even metastatic. Bladder cancer has a high risk of recurrence, so people whose non-invasive cancer has been treated need to be monitored for many years, undergoing cystoscopy every few months. They looked for predictive genetic footprints in the transcriptome of the cancer, which contains all of a cell’s RNA and can tell researchers which genes are turned on or off.

 

They found three subgroups with distinct basal and luminal features, as proposed by other groups, each with different clinical outcomes in early-stage bladder cancer. These features sort bladder cancer into genetic categories that can help predict whether the cancer will return. The researchers also identified mutations that are linked to tumour progression. Mutations in the so-called APOBEC genes, which code for enzymes that modify RNA or DNA molecules. This effect could lead to cancer and cause it to be aggressive.

 

The second major research group, TCGA, led by the National Cancer Institute and the National Human Genome Research Institute, that involves thousands of researchers across USA. The project has already mapped genomic changes in 33 cancer types, including breast, skin and lung cancers. The TCGA researchers, who study muscle-invasive bladder cancer, have looked at tumours that were already identified as fast-growing and invasive.

 

The work by Uromol, TCGA and other labs has provided a clearer view of the genetic landscape of early- and late-stage bladder cancer. There are five subtypes for the muscle-invasive form: luminal, luminal–papillary, luminal–infiltrated, basal–squamous, and neuronal, each of which is genetically distinct and might require different therapeutic approaches.

 

Bladder cancer has the third-highest mutation rate of any cancer, behind only lung cancer and melanoma. The TCGA team has confirmed Uromol research showing that most bladder-cancer mutations occur in the APOBEC genes. It is not yet clear why APOBEC mutations are so common in bladder cancer, but studies of the mutations have yielded one startling implication. The APOBEC enzyme causes mutations early during the development of bladder cancer, and independent of cigarette smoke or other known exposures.

 

The TCGA researchers found a subset of bladder-cancer patients, those with the greatest number of APOBEC mutations, had an extremely high five-year survival rate of about 75%. Other patients with fewer APOBEC mutations fared less well which is pretty surprising.

 

This detailed knowledge of bladder-cancer genetics may help to pinpoint the specific vulnerabilities of cancer cells in different people. Over the past decade, Broad Institute researchers have identified more than 760 genes that cancer needs to grow and survive. Their genetic map might take another ten years to finish, but it will list every genetic vulnerability that can be exploited. The goal of cancer precision medicine is to take the patient’s tumour and decode the genetics, so the clinician can make a decision based on that information.

 

References:

 

https://www.ncbi.nlm.nih.gov/pubmed/29117162

 

https://www.ncbi.nlm.nih.gov/pubmed/27321955

 

https://www.ncbi.nlm.nih.gov/pubmed/28583312

 

https://www.ncbi.nlm.nih.gov/pubmed/24476821

 

https://www.ncbi.nlm.nih.gov/pubmed/28988769

 

https://www.ncbi.nlm.nih.gov/pubmed/28753430

 

Advertisements

Read Full Post »


cell-free DNA (cfDNA) tests could become the ultimate “Molecular Stethoscope” that opens up a whole new way of practicing Medicine

 

Reporter: Aviva Lev-Ari, PhD, RN

The first commercial application of cfDNA sequencing debuted in 2011. New blood tests can identify Down’s syndrome and similar genetic conditions during the first months of pregnancy by checking the fetal DNA in the bloodstream of a pregnant woman. (Anywhere from 10 to 15 percent of the DNA in a pregnant woman’s blood comes from the placenta, which is genetically similar to the fetus.) These maternal blood tests are fast replacing less-accurate procedures, such as ultrasound plus blood analysis.

More recently, researchers have started looking at cfDNA to develop so-called liquid biopsies, which analyze a tumor’s genetic makeup or look for evidence of a cancer recurrence. Tumors often spill DNA into the blood as they grow and divide, and because they are usually riddled with mutations, their scrambled DNA is clearly different from that found in normal DNA fragments. The first liquid biopsy test was launched only three years ago; although they are not yet part of routine care, the field is growing quickly. One company says it will give liquid biopsy tests to one million people in the next five years, and another has raised nearly $1 billion for its studies.

A similar cfDNA method is being tested for newly transplanted organs, which are at risk of being rejected by the recipient’s immune system. Currently, transplant doctors check a transplanted organ’s health by performing repeated biopsies, which are expensive and invasive. After a transplant small amounts of donor DNA from the new heart or kidney, for example, circulate in the blood as part of the normal process of cell birth and death. If the host immune system attacks the foreign organ, the proportion of donor DNA increases as more and more foreign cells die. One company, CareDx, already sells a test that picks up on that change for people who have had kidney transplants.

The researchers invented a way to boost the signal by reducing human DNA in blood samples. Their spin-off company, Karius, launched a test earlier this year to identify bacteria, fungi, viruses or parasites in hospitalized patients. It can spot infections in organs that are too dangerous for biopsies, including the lung and the brain, Kertesz says—and it is most useful for people with mystery infections or who are too sick to endure a surgery.

cell-free DNA tests in the future include stroke, or autoimmune conditions such as lupus

 

SOURCE

One Test May Spot Cancer, Infections, Diabetes and More

Researchers are starting to diagnose more ailments using DNA fragments found in the blood

https://www.scientificamerican.com/article/one-test-may-spot-cancer-infections-diabetes-and-more/

Read Full Post »


First Haploid Human Stem Cells

Reported: Irina Robu, PhD

Most of the cells in our body are diploid, which indicate they carry two sets of chromosomes—one from each parent. So far, scientists have only succeeded in generating haploid embryonic stem cells—which comprise a single set of chromosomes in non-human mammals such as mice, rats and monkeys. Nevertheless, scientists have tried to isolate and duplicate these haploid ESCs in humans, which would allow them to work with one set of human chromosomes as opposed to a mixture from both parents.

Scientists from Hebrew from The Hebrew University of Jerusalem, Columbia University Medical Center (CUMC) and The New York Stem Cell Foundation Research Institute (NYSCF) were successful in generating a new type of embryonic stem cells that has a single copy of the human genome, instead of two copies which is typically found in normal stem cells.

This landmark was finally obtained by Ido Sagi, working as a PhD student at the Hebrew University of Jerusalem which was successful in isolating and maintaining haploid embryonic stem cells in humans. Unlike in mice, these haploid stem cells were capable to differentiate into various cell types such as brain, heart and pancreas, although holding a single set of chromosomes. Sagi and his advisor, Prof. Nissim Benvenisty showed that this new human stem cell type will play an important role in human genetic and medical research.  This new human cell type cell type will aid in understanding human development and it will make genetic screening simpler and more precise, by examining a single set of chromosomes.

Based on this research, the Technology Transfer arm of the Hebrew University, started a new company New Stem, which is developing a diagnostic kit for predicting resistance to chemotherapy treatments. By gathering a broad library of human pluripotent stem cells with various genetic makeups and mutations. The company is planning to use this kit for personalized medication and future therapeutic and reproductive products.

SOURCE

https://medicalxpress.com/news/2017-06-haploid-human-stem-cells-medical.html#jCp

Other related articles published in this Open Access Online Scientific Journal include the following:

Ido Sagi – PhD Student @HUJI, 2017 Kaye Innovation Award winner for leading research that yielded the first successful isolation and maintenance of haploid embryonic stem cells in humans.

Reporter: Aviva Lev-Ari, PhD, RN

Ido Sagi – PhD Student @HUJI, 2017 Kaye Innovation Award winner for leading research that yielded the first successful isolation and maintenance of haploid embryonic stem cells in humans.

 

 

Read Full Post »


Reporter and Curator: Irina Robu, PhD

Monitoring cancer patients and evaluating their response to treatment can sometimes involve invasive procedures, including surgery.

The liquid biopsies have become something of a Holy Grail in cancer treatment among physicians, researchers and companies gambling big on the technology. Liquid biopsies, unlike traditional biopsies involving invasive surgery — rely on an ordinary blood draw. Developments in sequencing the human genome, permitting researchers to detect genetic mutations of cancers, have made the tests conceivable. Some 38 companies in the US alone are working on liquid biopsies by trying to analyze blood for fragments of DNA shed by dying tumor cells.

Premature research on the liquid biopsy has concentrated profoundly on patients with later-stage cancers who have suffered treatments, including chemotherapy, radiation, surgery, immunotherapy or drugs that target molecules involved in the growth, progression and spread of cancer. For cancer patients undergoing treatment, liquid biopsies could spare them some of the painful, expensive and risky tissue tumor biopsies and reduce reliance on CT scans. The tests can rapidly evaluate the efficacy of surgery or other treatment, while old-style biopsies and CT scans can still remain inconclusive as a result of scar tissue near the tumor site.

As recently as a few years ago, the liquid biopsies were hardly used except in research. At the moment, thousands of the tests are being used in clinical practices in the United States and abroad, including at the M.D. Anderson Cancer Center in Houston; the University of California, San Diego; the University of California, San Francisco; the Duke Cancer Institute and several other cancer centers.

With patients for whom physicians cannot get a tissue biopsy, the liquid biopsy could prove a safe and effective alternative that could help determine whether treatment is helping eradicate the cancer. A startup, Miroculus developed a cheap, open source device that can test blood for several types of cancer at once. The platform, called Miriam finds cancer by extracting RNA from blood and spreading it across plates that look at specific type of mRNA. The technology is then hooked up at a smartphone which sends the information to an online database and compares the microRNA found in the patient’s blood to known patterns indicating different type of cancers in the early stage and can reduce unnecessary cancer screenings.

Nevertheless, experts warn that more studies are essential to regulate the accuracy of the test, exactly which cancers it can detect, at what stages and whether it improves care or survival rates.

SOURCE

https://www.fastcompany.com/3037117/a-new-device-can-detect-multiple-types-of-cancer-with-a-single-blood-test

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356857/

Other related articles published in this Open Access Online Scientific Publishing Journal include the following:

Liquid Biopsy Chip detects an array of metastatic cancer cell markers in blood – R&D @Worcester Polytechnic Institute, Micro and Nanotechnology Lab

Reporters: Tilda Barliya, PhD and Aviva Lev-Ari, PhD, RN

https://pharmaceuticalintelligence.com/2016/12/28/liquid-biopsy-chip-detects-an-array-of-metastatic-cancer-cell-markers-in-blood-rd-worcester-polytechnic-institute-micro-and-nanotechnology-lab/

Liquid Biopsy Assay May Predict Drug Resistance

Curator: Larry H. Bernstein, MD, FCAP

https://pharmaceuticalintelligence.com/2015/11/06/liquid-biopsy-assay-may-predict-drug-resistance/

One blood sample can be tested for a comprehensive array of cancer cell biomarkers: R&D at WPI

Curator: Marzan Khan, B.Sc

https://pharmaceuticalintelligence.com/2017/01/05/one-blood-sample-can-be-tested-for-a-comprehensive-array-of-cancer-cell-biomarkers-rd-wpi

 

 

Read Full Post »


Cancer: It’s Geography Mapping by CDC

Reporter: Aviva Lev-Ari, PhD, RN

 

THIS IS A SEMINAL STUDY BY CDC.GOV ON THE LONGITUDINAL, DEMOGRAPHICAL AND SPATIAL DIMENSIONS OF CANCER IN THE US by State. It is recommended to the eReader to go directly to the original study by cdc.gov

Cancer Rates by U.S. State

https://www.cdc.gov/cancer/dcpc/data/state.htm

Click on all links on the left hand side of this webpage

In addition, review the following:

http://www.businessinsider.com/map-of-cancer-rates-in-the-united-states-2017-5/#the-page-also-provided-breakdowns-of-the-leading-new-cancer-cases-alongside-the-10-types-of-cancer-that-caused-the-highest-rate-of-cancer-deaths-in-2013-lung-and-bronchial-cancer-was-the-leading-cause-of-cancer-deaths-for-both-men-and-women-while-the-highest-rates-of-new-cancer-were-breast-for-women-and-prostate-for-men-7

The CDC mapped out where people with cancer live in the US — here’s what it found

 

This map looks at the rate of new cancer cases by state per 100,000 people. This is specifically looking at 2013, which is the most recent year available. The darker the color, the higher the rate.

The page also provided breakdowns of the leading new cancer cases alongside the 10 types of cancer that caused the highest rate of cancer deaths in 2013. Lung and bronchial cancer was the leading cause of cancer deaths for both men and women, while the highest rates of new cancer were breast for women and prostate for men.

SOURCES

CDC.gov

http://www.businessinsider.com/map-of-cancer-rates-in-the-united-states-2017-5/#the-page-also-provided-breakdowns-of-the-leading-new-cancer-cases-alongside-the-10-types-of-cancer-that-caused-the-highest-rate-of-cancer-deaths-in-2013-lung-and-bronchial-cancer-was-the-leading-cause-of-cancer-deaths-for-both-men-and-women-while-the-highest-rates-of-new-cancer-were-breast-for-women-and-prostate-for-men-7

Read Full Post »


Liquid Biopsy Chip detects an array of metastatic cancer cell markers in blood – R&D @Worcester Polytechnic Institute,  Micro and Nanotechnology Lab

Reporters: Tilda Barliya, PhD and Aviva Lev-Ari, PhD, RN
bold face added by ALA

Static micro-array isolation, dynamic time series classification, capture and enumeration of spiked breast cancer cells in blood: the nanotube–CTC chip

Farhad Khosravi1, Patrick J Trainor2, Christopher Lambert3, Goetz Kloecker4, Eric Wickstrom5, Shesh N Rai2,6 and Balaji Panchapakesan1

Published 29 September 2016© 2016 IOP Publishing Ltd
Nanotechnology, Volume 27, Number 44

Nanotechnology (2016). DOI: 10.1088/0957-4484/27/44/44LT03

Researchers build liquid biopsy chip that detects metastatic cancer cells in blood: One blood sample can be tested for a comprehensive array of cancer cell markers.

“Imagine going to the doctor for your yearly physical,” he said. “You have blood drawn and that one can be tested for a comprehensive array of cancer cell markers. Cancers would be caught at their earliest stage and other stages of development, and doctors would have the necessary protein or genetic information from these captured to customize your treatment based on the specific markers for your cancer. This would really be a way to put your health in your own hands.”

[T]he WPI device is also highly effective in separating cancer cells from the other cells and material in the blood through differential settling.

“White blood cells, in particular, are a problem, because they are quite numerous in blood and they can be mistaken for cancer cells,” he said. “Our device uses what is called a passive leukocyte depletion strategy. Because of density differences, the tend to settle to the bottom of the wells (and this only happens in a narrow window), where they encounter the antibodies. The remainder of the blood contents stays at the top of the wells and can simply be washed away.”

In addition to capturing tumor cells, Panchapakesan says the chip will also latch on to tiny structures called exosomes, which are produced by cancers cells and carry the same markers. “These highly elusive 3-nanometer structures are too small to be captured with other types of liquid biopsy devices, such as microfluidics, due to shear forces that can potentially destroy them,” he noted. “Our chip is currently the only device that can potentially capture circulating tumor cells and exosomes directly on the chip, which should increase its ability to detect metastasis. This can be important because emerging evidence suggests that tiny proteins excreted with exosomes can drive reactions that may become major barriers to effective cancer drug delivery and treatment.”

The device developed by Panchapakesan’s team includes an array of tiny elements, each about a tenth of an inch (3 millimeters) across. Each element has a well, at the bottom of which are antibodies attached to carbon nanotubes. Each well holds a specific antibody that will bind selectively to one type of cancer cell type, based on genetic markers on its surface. By seeding elements with an assortment of antibodies, the device could be set up to capture several different cancer cells types using a single blood sample. In the lab, the researchers were able to fill a total of 170 wells using just under 0.3 fluid ounces (0.85 milliliter) of blood. Even with that small sample, they captured between one and a thousand cells per device, with a capture efficiency of between 62 and 100 percent.

The carbon nanotubes used in the device act as semiconductors. When a cancer cell binds to one of the attached antibodies, it creates an electrical signature that can be detected. These signals can be used to identify which of the elements in the array have captured cancer cells. Those individual arrays can then be removed and taken to a lab, where the captured cells can be stained and identified under a microscope. In the lab, the binding and electrical signature generation process took just a few minutes, suggesting the possibility of getting same-day results from a blood test using the chip, Panchapakesan says.

SOURCE

https://genesisnanotech.wordpress.com/2016/12/27/researchers-build-liquid-biopsy-chip-that-detects-metastatic-cancer-cells-in-blood-one-blood-sample-can-be-tested-for-a-comprehensive-array-of-cancer-cell-markers/

Balaji Panchapakesan – List of Recent Publications

 

Static micro-array isolation, dynamic time series classification, capture and enumeration of spiked breast cancer cells in blood: the nanotube–CTC chip

F Khosravi, PJ Trainor, C Lambert, G Kloecker, E Wickstrom, SN Rai, …
Nanotechnology 27 (44), 44LT03
  2016
A Thermoacoustic Model for High Aspect Ratio Nanostructures

MS Loeian, RW Cohn, B Panchapakesan
Actuators 5 (4), 23
  2016
Spatially Nonuniform Heating and the Nonlinear Transient Response of Elastomeric Photomechanical Actuators

RW Cohn, B Panchapakesan
Actuators 5 (2), 16
  2016
Ultraflexible nanostructures and implications for future nanorobots

RW Cohn, B Panchapakesan
SPIE Commercial+ Scientific Sensing and Imaging, 98590B-98590B-7
  2016
Label-free capture of breast cancer cells spiked in buffy coats using carbon nanotube antibody micro-arrays

F Khosravi, P Trainor, SN Rai, G Kloecker, E Wickstrom, …
Nanotechnology 27 (13), 13LT02
2 2016
Chromatic Mechanical Response in 2-D Layered Transition Metal Dichalcogenide (TMDs) based Nanocomposites

V Rahneshin, F Khosravi, DA Ziolkowska, JB Jasinski, B Panchapakesan
Scientific Reports 6
  2016
Classification of biosensor time series using dynamic time warping: applications in screening cancer cells with characteristic biomarkers

SN Rai, PJ Trainor, F Khosravi, G Kloecker, B Panchapakesan
Open access medical statistics 2016 (6), 21
1 2016
STIMULI-RESPONSIVE POLYMER COMPOSITES

J Loomis, B Panchapakesan
US Patent 20,150,361,241
  2015
MoS2 actuators: reversible mechanical responses of MoS2-polymer nanocomposites to photons

X Fan, F Khosravi, V Rahneshin, M Shanmugam, M Loeian, J Jasinski, …
Nanotechnology 26 (26), 261001
6 2015
Programmable Skins based on Core-Shell Microsphere/Nanotube/Polymer Composites

B Panchapakesan, C Onal, J Loomis
MRS Proceedings 1800, mrss15-2136299
  2015
Photothermal nanopositioners based on graphene nanocomposites

J Loomis, B Panchapakesan
SPIE NanoScience+ Engineering, 91700B-91700B-9
  2014
Nanotube liquid crystal elastomers: photomechanical response and flexible energy conversion of layered polymer composites

X Fan, BC King, J Loomis, EM Campo, J Hegseth, RW Cohn, E Terentjev, …
Nanotechnology 25 (35), 355501
6 2014
Vacuum filtration based formation of liquid crystal films of semiconducting carbon nanotubes and high performance transistor devices

B King, B Panchapakesan
Nanotechnology 25 (17), 175201
15 2014
2013 Index IEEE Nanotechnology Magazine Vol. 7

C Chen, H Chen, L Chen, C Chng, M Chua, C Chui, J Gao, V Gau, …
  2014
Nanotube Devices for Digital Profiling: A focus on cancer biomarkers and circulating tumor cells.

F Khosravi, B King, S Rai, G Kloecker, E Wickstrom, B Panchapakesan
IEEE Nanotechnology Magazine 7 (4), 20-26
4 2013
Nanotube devices for digital profiling of cancer biomarkers and circulating tumor cells

F Khosravi, B King, B Panchapakesan, S Rai, G Kloecker, E Wickstrom
The 7th IEEE International Conference on Nano/Molecular Medicine and …
1 2013
Graphene/elastomer composite-based photo-thermal nanopositioners

J Loomis, X Fan, F Khosravi, P Xu, M Fletcher, RW Cohn, …
Scientific reports 3
32 2013
Methods for fabricating polymer composites

B Panchapakesan
US Patent App. 13/889,121
1 2013
Stimuli-responsive transformation in carbon nanotube/expanding microsphere? polymer composites

J Loomis, P Xu, B Panchapakesan
Nanotechnology 24 (18), 185703
9 2013
Synergism in Binary (MWNT, SLG) Nano-carbons in Polymer Nano-composites: A Raman Study

P Xu, J Loomis, B King, B Panchapakesan
MRS Proceedings 1505, mrsf12-1505-w17-01
  2013
Show more

Read Full Post »


p53 mutation – Li-Fraumeni Syndrome – Likelihood of Genetic or Hereditary conditions playing a role in Intergenerational incidence of Cancer

 

Reporter: Aviva Lev-Ari, PhD, RN

 

THIS ARTICLE IS RECOMMENDED READING TO ALL OUR e-Readers

because it is a REAL story of a high school student fighting Brain Cancer, glioblastoma multiforme (GBM)

it presents the FRONTIER OF GENOMICS, PRECISION MEDICINE, Interventional Radiology and Interventional ONCOLOGY at

Stanford University, Canary Center at Stanford for Early Cancer Detection, Stanford Medical Center and Lucile Packard Children’s Hospital

I was exposed to Li-Fraumeni Syndrome in the following article:

‘And yet, you try’ – A father’s quest to save his son

http://stanmed.stanford.edu/2016fall/milan-gambhirs-li-fraumeni-syndrome.html

 

Li-Fraumeni syndrome

Other Names for This Condition

  • LFS
  • Sarcoma family syndrome of Li and Fraumeni
  • Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome
  • SBLA syndrome

LFS is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.

The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called

Soft tissue sarcoma forms in soft tissues of the body, including muscle, tendons, fat, blood vessels, lymph vessels, nerves, and tissue around joints.


(small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome.

A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.

Genetic Changes

The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome.

More than half of all families with Li-Fraumeni syndrome have inherited mutations in the gene. TP53 is a tumor suppressor gene, which means that it normally helps control the growth and division of cells. Mutations in this gene can allow cells to divide in an uncontrolled way and form tumors. Other genetic and environmental factors are also likely to affect the risk of cancer in people with TP53 mutations.

A few families with cancers characteristic of Li-Fraumeni syndrome and Li-Fraumeni-like syndrome do not have TP53 mutations, but have mutations in the CHEK2 gene. Like the TP53 gene, CHEK2 is a tumor suppressor gene. Researchers are uncertain whether CHEK2 mutations actually cause these conditions or are merely associated with an increased risk of certain cancers (including breast cancer).

Inheritance Pattern

Li-Fraumeni syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing cancer. In most cases, an affected person has a parent and other family members with cancers characteristic of the condition.

Diagnosis and Management

These resources address the diagnosis or management of Li-Fraumeni syndrome:

References on LFS

SOURCE

https://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome

Read Full Post »

Older Posts »