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Biochemical and imaging surveillance for Li-Fraumeni syndrome: The “Toronto Protocol” at 11 years.

Background: Carriers of a germline TP53 mutation have a substantial lifetime risk of developing cancer. We sought to update our evaluation of a comprehensive surveillance protocol for individuals with Li-Fraumeni syndrome. Methods: A clinical surveillance protocol, utilizing frequent biochemical and imaging studies, was introduced at three tertiary care centres on January 1, 2004 for TP53 mutation carriers. We conducted a prospective observational study of individuals in 20 families who either chose to undergo surveillance or who declined surveillance. The primary outcome measure was detection of new cancers. Results: As of January 1, 2015, 46 TP53 mutation carriers were identified. Thirty-one individuals have undergone surveillance over an average period of 65 months (range 4-150 months), and 20 asymptomatic tumors have been detected in 10 patients. Two additional cancers were diagnosed between assessments. Twelve incidental findings were documented, most of which led to additional imaging and 2 of which led to a biopsy. Among the 22 patients who declined surveillance, 21 symptomatic tumors were diagnosed in 19 patients. Seven of the 19 patients not on surveillance who developed cancer are alive, compared to 8 of the 10 patients on surveillance who developed cancer. Individuals demonstrated nearly 100% compliance with the surveillance protocol. Conclusions: We demonstrate the sustained feasibility and utility of a surveillance protocol for the early detection of neoplasms in individuals with germline TP53 mutations. Subcategory: Cancer Genetics Category: Cancer Prevention, Genetics, and Epidemiology Meeting: 2015 ASCO Annual Meeting Session Type and Session Title: This abstract will not be presented at the 2015 ASCO Annual Meeting but has been published in conjunction with the meeting. Abstract Number: e12546 Citation: J Clin Oncol 33, 2015 (suppl; abstr e12546) Author(s): Anita Villani, Ari Shore, Jonathan Wasserman, Harriet Druker, Bailey Gallinger, Ana Novokmet, Uri Tabori, Jonathan L. Finlay, Joshua David Schiffman, David Malkin; The Hospital for Sick Children, Toronto, ON, Canada; The Hospital for Sick Children, [...]

By |2017-08-11T12:16:08+01:00april 18th, 2016|Geen categorie|Reacties uitgeschakeld voor Biochemical and imaging surveillance for Li-Fraumeni syndrome: The “Toronto Protocol” at 11 years.

Qlucore’s Omics Explorer enables researchers to study genetic influences behind Li-Fraumeni Syndrome

While childhood cancer is rare (adult malignancies after 20 years are 20-30 times more common in general) it remains a major cause of death by disease in children. 15,700 children are diagnosed with cancer each year in the USA. Childhood cancer is largely a genetic disease, although its pattern of inheritance is not always clearly defined. It is these genetic mechanisms of susceptibility that are the focus of research for the Cancer Genetics Program at the Hospital for Sick Children (SickKids) in Toronto, Canada. Research within the Cancer Genetics Program is wide ranging. It includes identifying and studying genes associated with childhood cancer risk; analyzing molecular and cell biology pathways associated with development and progression of cancers; identifying molecules that might represent viable targets for novel drug therapies; and developing practical applications of genetic testing of children and families at risk. It receives more than 190 new referrals each year and to date has consulted on over 1200 families. Individuals with mutations in the TP53 gene, a condition known as Li-Fraumeni Syndrome (LFS), are one particular focus of the Cancer Genetics Program. LFS sufferers are predisposed to a wide spectrum of cancers that often develop when they are children. TP53 mutations are also found in women who have developed breast cancer under age 30. Many people with LFS will be diagnosed with cancer two or more times during their lifetime. Nardin Samuel, an MD/PhD candidate at the Faculty of Medicine, University of Toronto working at the Hospital for Sick Children, Genetics and Genome Biology, Ontario Institute for Cancer Research, is using Qlucore’s Omics Explorer in her PhD work focusing on the epigenetics of LFS cancers. Epigenetics is the study of the chemical reactions that activate and deactivate specific parts of living organism’s the genome as it develops and the factors that influence these reactions. It provides insight into regulatory mechanisms that [...]

By |2017-08-11T12:16:08+01:00april 18th, 2016|Geen categorie|Reacties uitgeschakeld voor Qlucore’s Omics Explorer enables researchers to study genetic influences behind Li-Fraumeni Syndrome

Boek. De kans van 0,0059%

Binnenkort te bestellen..... De kans van 0,0059% is een boek over kanker in de breedste zin van het woord. Een boek over mijn jeugd met het sterven van mijn moeder (aan kanker) als bittere pil. De ontdekking van mijn eigen kanker op achtentwintigjarige leeftijd en de erfelijke belasting, die aan het ontstaan van mijn kanker ten grondslag lag. Een boek over kiezen tussen het al dan niet invriezen van bevruchte embryo’s, het behouden of verliezen van mijn borsten, met pruik of met kale kop door het leven gaan. Een boek waarin ongecensureerd de meest uiteenlopende emoties aan bod komen. De angst, het verdriet, de boosheid en agressie, maar ook een intense vorm van geluk en genieten. Een boek over vervlogen toekomstdromen en het vorm geven van een nieuwe, maar onzekere toekomst. De kans van 0,0059% is een boek voor eenieder die de ongecensureerde waarheid over het kankerleven wil lezen en leren. De patiënt, de professional, de collega, vriend of kennis, de ouder, het kind van, de nieuwsgierige en niet op de laatste plaats de mantelzorger. De oh zo onmisbare mantelzorger, die vaak stilzwijgend deze zware en  verantwoordelijke taak toebedeeld krijgt.   Over de Auteur:Audrey Stevens Voor meer informatie over mij en mijn boek kunt u terecht op www.dekansvan.com. Op mijn Facebookpagina: de kans van 0,0059%, neem ik inmiddels bijna 300 volgers mee op mijn weg naar publicatie en uiteindelijk ook na publicatie.   

By |2016-03-27T16:49:39+01:00maart 27th, 2016|Geen categorie|Reacties uitgeschakeld voor Boek. De kans van 0,0059%

Even though they are much bigger, elephants are much less likely to get cancer than mice – or humans

Way back in the last century, in 1975, Richard Peto, a young statistician at the University of Oxford drew attention to a statistical mystery. He proposed Peto's paradox — why do we humans suffer from so few cancers? At this stage, you will quite rightly point out that we get lots of cancers. One in every three of us will grow some kind of a cancer at some stage in our lives, and unfortunately, about one in every five of us will die from a cancer. But compare humans to mice. We are a lot bigger than mice, and we live a lot longer. If you work out the numbers, human cells divide about 10,000 times more often than mice cells. Whenever a cell divides, there's a chance of a mistake in the new DNA — and also, an extra chance of a cancer. And yet, both humans and mice have the same lifetime risk of getting a cancer — even though the statistics say that we should have 10,000 times more cancers. And if you scale up to elephants, which are both long-lived and huge, they should be dying from colon cancer at the age of three. But exactly the opposite is true. Elephants are somehow 'protected' from cancers. Only one in 20 elephants dies of a cancer — even though they weigh 100 times more than we do. And their bigger elephant body is made of lots of extra cells, which undergo lots of extra cell divisions. Four decades later, we might be close to solving Richard Peto's paradox. The answer seems to be related to a protective gene called p53 — which, among many other activities, would appear to help fight cancer. While we humans have one copy of p53, elephants have 20 copies. In fact, there are humans who don't even have one good copy of this [...]

By |2016-03-27T17:13:13+01:00november 21st, 2015|Geen categorie|0 Comments

“The children with indentified mutations schould undergo ‘special screening”

Source NBC news More than 8 percent of children with cancer have unsuspected genetic mutations that could run in their families, researchers reported on Wednesday. These mutations not only put the children at risk of future cancers, but can mean their parents, brothers and sisters also have an unusually high risk, the team at St. Jude Children's Research Hospital in Memphis said. The findings might not only lead to new approaches to testing kids and their families for cancer risks, but could lead to better ways to treat them, as well, the team wrote in their report, published in the New England Journal of Medicine. The team at St. Jude and Washington University in St. Louis tested more than 1,100 children treated for cancer and found 8.5 percent of them had cancer-causing mutations in so-called germline cells, meaning they were likely to have been inherited. Forty percent of the children had no known family history of cancer. And some of the mutations were in the BRCA genes known to raise the risk of breast and ovarian cancer in adults - but not linked to childhood cancers. "Almost one in 10 of the children carries a mutation that increases their risk of cancer," Dr. James Downing, CEO of St. Jude told NBC News. "THE CHILDREN WITH IDENTIFIED MUTATIONS SHOULD UNDERGO SPECIAL SCREENING.""The children with identified mutations should undergo special screening," said Dr. Jaime Vengoechea Barrios, a medical geneticist at Emory University who was not involved in the study. "Their relatives need to be tested to see if they have the mutation and, if they do, they should also have the additional screening. Of note, insurance companies often initially refuse to pay for this kind of genetic testing." The Salas family is just one example. Now 12, Juan Salas was diagnosed with a rare brain tumor called pleomorphic xanthoastrocytoma in 2012. He had two rounds of [...]

By |2017-08-11T12:16:08+01:00november 21st, 2015|Geen categorie|0 Comments

Antoni van Leeuwenhoek erkend als Nationaal Expertisecentrum Zeldzame Aandoeningen

11 expertisecentra van het Antoni van Leeuwenhoek zijn deze week door de minister van Volksgezondheid, Welzijn en Sport aangewezen als nationaal expertisecentrum.  Bij een nationaal  expertisecentrum kunnen  patiënten met een zeldzame aandoeningen terecht voor diagnose, multispecialistische en –disciplinaire zorg en behandeling. De elf expertisecentra van het Antoni van Leeuwenhoek bundelen kennis en kunde en ontwikkelen en coördineren onderzoek – ieder voor hun eigen tumorsoort. De expertisecentra hebben een coördinerende rol in de samenwerking  met regionale behandelcentra. Zij dragen zorg voor een optimale behandeling van patiënten, en adequate verwijzing van patiënten in binnen- en buitenland. Het Antoni van Leeuwenhoek heeft nu de volgende elf nationale expertisecentra: Centrum voor Zeldzame Huid Tumoren; Expertisecentrum voor Neuroendocriene tumoren; Sarcoom Expertise Centrum Amsterdam; Expertisecentrum voor erfelijke MDL-tumoren; Centrum voor zeldzame MDL tumoren; Expertisecentrum voor zeldzame schildklier tumoren; Expertisecentrum voor zeldzame lymfomen; Expertise centrum voor zeldzame thoracale tumoren; Expertise centrum voor zeldzame urologische tumoren; Centrum voor zeldzame hoofd-hals tumoren; Expertise centrum voor Familiaire Tumoren. Emile Voest, medisch directeur en lid Raad van bestuur van het Antoni van Leeuwenhoek is blij met de erkenning: ‘Als een ziekte als kanker je treft, verdien je een op maat gemaakt behandelplan en de beste zorg en behandeling. Daar moet je niet lang naar hoeven zoeken. Voor mensen met een weinig voorkomende tumorsoort is het daarom belangrijk dat er meer inzicht komt in waar de kennis en kunde voor hun specifieke ziekte beschikbaar is. Ook voor verwijzers en andere zorgverleners en onderzoekers geeft de aanwijzing van de expertisecentra meer duidelijkheid. De aanwijzing van elf van onze centra past binnen de unieke rol van het Antoni van Leeuwenhoek in de Nederlandse gezondheidszorg.’ Enkele jaren geleden werd het  Nationaal Plan Zeldzame Ziekten (NPZZ) gelanceerd. Een belangrijke taak van het NPZZ is de ontwikkeling van een netwerk van expertisecentra.  De aanwijzing van expertisecentra moet leiden tot betere, integrale zorg voor patiënten met zeldzame aandoeningen. Zo’n [...]

By |2016-03-29T10:34:12+01:00november 21st, 2015|Geen categorie|0 Comments

In memoriam: Fred Li, pioneer of population cancer genetics

June 18, 2015 — Frederick Pei Li, who helped inaugurate the era of cancergenetics by demonstrating that people can inherit a genetic susceptibility to develop certain malignancies, died on June 12 at the age of 75. A professor at Dana-Farber Cancer Institute (DFCI), Harvard Medical School, and Harvard T.H. Chan School of Public Health, Li laid the groundwork for today’s genetic counseling services for people with an inherited risk of cancer—and for efforts to develop cancer-prevention strategies for such individuals. In the late 1960s, Li and his colleague at the National Cancer Institute (NCI), Joseph Fraumeni, began tracking patterns of cancer in children. Together, they identified a small number of families in which the same rare cancers had arisen across multiple generations. Their research led them to describe what is now known as Li-Fraumeni syndrome, a rare but devastating condition in which people are highly prone to develop a variety of serious cancers at an early age. For the next two decades, Li and his colleagues worked to identify the mutated gene or genes responsible for the syndrome. In 1990, they published a paper identifying a mutation in p53, a tumor-suppressor gene, as the culprit. It was one of the first times an inherited abnormal gene was linked to cancer in humans. The finding paved the way for the discovery of other cancer-susceptibility genes such as BRCA1 and BRCA2, which increase the risk of breast or ovarian cancer when inherited in a mutated form. For their breakthrough research, Li and Fraumeni received the prestigious Charles S. Mott Prize of the General Motors Cancer Research Foundation. Their work led to the development of a genetic test for Li-Fraumeni syndrome, which became a paradigm for the evolving field of genetic epidemiology. “I was attracted to studies of cancer families because epidemiological studies show that virtually all cancers manifest a tendency to aggregate in families,” [...]

By |2017-08-11T12:16:08+01:00november 21st, 2015|Geen categorie|0 Comments

Toronto protocol

TORONTO – Luana Locke was eight months pregnant with her first child when she was diagnosed with breast cancer. Soon after, Locke learned that she had Li-Fraumeni syndrome, a cancer predisposition syndrome that put her at high risk of developing the disease. Having lost several family members to cancer, Locke later had her two children tested and found out they had also inherited the abnormal gene that causes Li-Fraumeni syndrome. Dim lights Embed New research led by The Hospital for Sick Children (SickKids) indicates that children and adults with inherited cancer susceptibility, like the Locke family, can benefit from a new cancer surveillance protocol that helps detect tumours early and improves overall survival. The study is published in the May 20 advance online edition of The Lancet Oncology. The study supports the use of genetic testing in at-risk individuals. It shows that close monitoring of patients who test positive for a genetic mutation can lead to early tumour detection. This detection can occur even before symptoms arise, allowing oncologists to remove tumours when they are very small and in some cases eliminate the need for aggressive cancer therapy. Researchers focused on families with Li-Fraumeni syndrome and found that survival was 100 per cent in the surveillance group and only 21 per cent for those who did not undergo surveillance. “This surveillance protocol was implemented for families with Li-Fraumeni syndrome because of their high lifetime risk of developing cancer,” says Dr. David Malkin, Principal Investigator for the study, Director of the Cancer Genetics Program and Senior Staff Oncologist at SickKids. “However, the concept of a comprehensive surveillance protocol may be applicable to some of the more common cancer susceptibility disorders.” People with Li-Fraumeni syndrome typically have a mutation of the TP53 tumour suppressor gene that predisposes them to cancer. Their lifetime risk of developing cancer is estimated at 73 per cent in male carriers and 93 per [...]

By |2017-08-11T12:16:08+01:00november 20th, 2015|Geen categorie|0 Comments