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  • Terry Fox research team’s model for detecting lung cancer saves lives, is a world leader: study

    by TFRI Admin | Oct 18, 2017
    Dr. Stephen Lam discusses lung cancer nodules with study participant Mr. Chris Douglas. Photo credit: Chuck Russell, BC Cancer Agency

    A pan-Canadian team of cancer researchers has developed a predictive model for detecting early-stage lung cancer in high-risk individuals with significantly greater accuracy than other leading models. This Terry Fox Research Institute study suggests the team’s innovative approach could be considered for use in lung cancer screening programs both in Canada and around the world.

    The results, highlighted in a study published in the Oct.18th edition of The Lancet Oncology, were presented at the 18th World Conference on Lung Cancer in Yokohama, Japan on Wednesday by co-principal investigator Dr. Stephen Lam (chair of British Columbia’s Provincial Lung Tumour Group at the BC Cancer Agency and a professor of medicine at the University of British Columbia).

    “We knew our Pan Can Lung Cancer Risk Prediction Model would probably work better than other models, but we were surprised at how much better,” says Dr. Lam. “We have the means to identify high-risk people, and we know we can find cancer early. This model provides a superior tool that would be beneficial in Canada and around the world in saving more lives.”

    The Pan Can Lung Cancer Risk Prediction Model – which is used to determine which individual should undergo annual CT screening to detect early-stage lung cancer – outperformed comparable models such as The National Lung Screening Trial (led by the National Cancer Institute in the US). The Pan Can Model was developed with $8.4-million support from the Terry Fox Research Institute (TFRI), and The Canadian Partnership Against Cancer.

    Ottawa resident Debi Lascelle took part in the Terry Fox Research Institute study, and credits the early-detection protocol with catching her cancer while it was still curable.

    “Being involved in this study quite literally saved my life,” said Lascelle, who had a 13-milimetre tumour removed from her right lung through surgery and has been cancer-free ever since. “How do you adequately find a way to say, ‘Thank you for my life’? It’s been seven years and I still haven’t found a way.”

    The PanCan Model diagnosed lung cancer in 6.5 per cent of people screened with a follow-up of five years, compared to the four per cent of cases found by the National Lung Screening Trial over a longer term (6.5 years). Further, 77 per cent of the lung tumours diagnosed with the Pan Can Model were caught in early-stages when the cancer is potentially curable, compared to 57 per cent in the NLST study. Lung cancer is the most common cause of cancer death around the world – yet if caught early enough it can be cured in 70 per cent of cases, making early detection a critical feature in a predictive model.

    Currently, both the US and Canadian lung cancer screening guidelines are based on age and smoking history. One of the main advantages of the Pan Can Model is it uses a risk prediction tool that looks at numerous additional variables: sex, family history of lung cancer, chronic obstructive pulmonary disease, educational level and body mass index.

    “Looking at just age and smoking history is actually a very inaccurate way of doing things, because we know that age and smoking history alone finds 33 per cent fewer people with lung cancer than the PanCan prediction tool,” adds Dr. Lam.

    The TFRI Pan-Canadian Early Lung Cancer Detection Study was expanded in 2017 to examine factors such as genetics and air pollution in lung cancer risk. The study is looking to recruit 2,000 British Columbians who have smoked for at least 20 years and are between 55 and 80. Dr. Victor Ling, president and scientific director of The Terry Fox Research Institute, says The Lancet Oncology study results epitomize the type of cutting-edge, precision medicine TFRI strives to fund across Canada.

    “The Terry Fox Research Institute is thrilled at the success of the Pan Can Lung Cancer Risk Prediction Model,” remarks Dr. Ling. “The paper’s recommendations have the opportunity to better detect this deadly disease in high-risk individuals. We believe this research holds great promise for providing improved outcomes for lung cancer patients both within Canada and around the world.”

    Original article from The Lancet Oncology: Participant selection for lung cancer screening by risk modelling (the Pan-Canadian Early Detection of Lung Cancer [PanCan] study): a single-arm, prospective study

    Check out The Canadian Press story (shared by CTV News) about the research here

  • Four premier TFRI investigators will present Marathon of Hope talks at CCRC

    by TFRI Editor | Sep 06, 2017

    (From top left to bottom right: Dr. John Bell, Dr. Stephen Lam, Dr. John Dick, and Dr. Marco Marra).

    TFRI is pleased to announce that it will be presenting a concurrent session (D6 in program) at the upcoming Canadian Cancer Research Conference featuring talks by four outstanding Canadian investigators: Dr. John Bell (OHRI) Dr. John Dick (UHN), Dr. Stephen Lam (BC Cancer Agency), and Dr. Marco Marra (BC Cancer Agency). The session is titled the Marathon of Hope Lectures and it will be held on Monday, Nov. 6, 2017 (3-4:30 p.m.). 

    These investigators will share their vision of how their research may transform outcomes for cancer patients and bring us closer to achieving Terry’s dream. Also, Monday morning we will hold our Early Morning Run/Walk to permit  all CCRC attendees to participate and help celebrate Terry’s legacy, Canada’s 150th and our 10th Anniversary. Please mark your calendars for these great events!

  • TFRI's 8th ASM focuses on potential of precision medicine

    by TFRI Editor | Sep 06, 2017


    TFRI’s one-day 8th Annual Scientific Meeting on Saturday, Nov. 4, 2017 in Vancouver will feature talks related to the theme of the potential of precision medicine. There will be three plenaries  on the subjects of cancer biology, prognostic strategies and therapeutic strategies. A fourth plenary will feature concurrent rapid-fire talks by selected trainees who will be presenting abstracts at this year's CCRC meeting (Nov. 5-7th). 

    Among this year’s ASM key speakers are:  Dr. Connie Eaves, BC Cancer Agency; Dr. Ivan Topisirovic, McGill University and Dr. Brian Wilson, UHN, and more than 75 rapid-fire talks are expected. Registration for those invited and confirmed to attend the meeting closes on Thursday, Sept. 21, 2017.

    Visit our ASM site for more information and/or to register.  

    TFRI Links, Summer 2017
  • It’s not too late to join a Terry Fox Run research team!

    by TFRI Editor | Sep 06, 2017

    Dr. Singh team

    The annual Terry Fox Run is just around the corner and our purple-shirted research teams - along with their friends and families - will be out in full force again this year! To date, more than 16 teams have confirmed their participation in the upcoming run on Sunday, Sept. 17th. Many are returning teams from last year!

    Thank you so much for supporting cancer research and Terry’s cause. A special thanks to all our team captains for leading the charge. It’s not to late to join or form a team. Visit the TFF web site to find a team at your institution (select Sponsor a Participant/Search team name TFRI)  or join the TFRI-HQ site led by our captain Dr. Victor Ling.  We are hoping to top last year’s amazing success: TFRI was the top multi-province team last year raising more than $116,000. 

    TFRI Links, Summer 2017
  • Canadian, international researchers find new candidate drivers, subtype diversity in study of whole-genome landscape for children’s brain cancer

    by TFRI Admin | Sep 06, 2017


    Medulloblastoma is the most common childhood brain cancer, and current treatments often have debilitating effects on developing children – a situation that highlights the need for molecularly targeted treatments with reduced toxicity. The present study analyzed hundreds of sequenced medulloblastoma (MB) samples, identifying numerous new targets that could give children with this disease new, less harmful therapeutic options.

    The research was led by Dr. Michael Taylor (Toronto’s Hospital for Sick Children) and Dr. Peter Lichter (German Cancer Research Center, Heidelberg), and was recently published with first author Dr. Paul. A Northcott (Nature, July 2017).Targeted treatments for MB are limited despite a significant need for new therapies, a dilemma that spurred the team to undergo a deep dive into the full range of genetic lesions and molecular heterogeneity that contribute to the different MB subgroups.

    Previous research from Dr. Taylor’s group showed there are four main molecular subgroups –Wingless (WNT), Sonic hedgehog (SHH), Group 3 and Group 4 – that have distinct epigenetic and transcriptional signatures. In the present study, the team examined 491 sequenced, previously untreated medulloblastoma samples and the molecular heterogeneity among 1,256 epigenetically analyzed cases.

    The results were impressive: on an individual gene level, new candidate drivers were discovered in each of the different subgroups, and were assigned to most patients belonging to Group 3 and Group 4, greatly enhancing previous knowledge. For example, all 36 WNT MBs sequenced in this study were confidently explained by mutations in at least one or more driver genes, and the team assigned at least one driver gene to more than 95 per cent of patients with SHH MB. Further, new molecular subtypes were differentially enriched for specific driver events, including hotspot in-frame insertions that target KBTBD4 and ‘enhancer hijacking’ events that activate PRDM6.

    Applying integrative genomics to a large study of patient samples derived from medulloblastoma revealed a series of cancer genes and biologically relevant subtype diversity, some of which could be targeted with new, personalized therapeutics. The present study’s findings – combined with future research – will likely help to advance treatments and to improve prognosis for children and families affected by this devastating brain cancer.

    Study: The whole-genome landscape of medulloblastoma subtypes

    Authors: Paul A. Northcott Ivo Buchhalter, A. Sorana Morrissy, Volker Hovestadt, Joachim Weischenfeldt, Tobias Ehrenberger, Susanne Gröbner, Maia Segura-Wang, Thomas Zichner, Vasilisa A. Rudneva, Hans-Jörg Warnatz, Nikos Sidiropoulos, Aaron H. Phillips, Steven Schumacher, Kortine Kleinheinz, Sebastian M. Waszak, Serap Erkek, David T. W. Jones, Barbara C. Worst, Marcel Kool, Marc Zapatka, Natalie Jäger, Lukas Chavez, Barbara Hutter, Matthias Bieg, Nagarajan Paramasivam, Michael Heinold, Zuguang Gu, Naveed Ishaque, Christina Jäger-Schmidt, Charles D. Imbusch, Alke Jugold, Daniel Hübschmann, Thomas Risch, Vyacheslav Amstislavskiy, Francisco German Rodriguez Gonzalez, Ursula D. Weber, Stephan Wolf, Giles W. Robinson, Xin Zhou, Gang Wu, David Finkelstein, Yanling Liu, Florence M. G. Cavalli, Betty Luu, Vijay Ramaswamy, Xiaochong Wu, Jan Koster, Marina Ryzhova, Yoon-Jae Cho, Scott L. Pomeroy, Christel Herold-Mende, Martin Schuhmann, Martin Ebinger, Linda M. Liau, Jaume Mora, Roger E. McLendon, Nada Jabado, Toshihiro Kumabe, Eric Chuah, Yussanne Ma, Richard A. Moore, Andrew J. Mungall, Karen L. Mungall, Nina Thiessen, Kane Tse, Tina Wong, Steven J. M. Jones, Olaf Witt, Till Milde, Andreas Von Deimling, David Capper, Andrey Korshunov, Marie-Laure Yaspo, Richard Kriwacki, Amar Gajjar, Jinghui Zhang, Rameen Beroukhim, Ernest Fraenke, Jan O. Korbel, Benedikt Brors, Matthias Schlesner, Roland Eils, Marco A. Marra, Stefan M. Pfister, Michael D. Taylor & Peter Lichter.

    Funding: The MAGIC project is partially financially supported by the Terry Fox Research Institute. M.D.T. is supported by the Garron Family Chair in Childhood Cancer Research, and grants from the Cure Search Foundation, the National Institutes of Health (R01CA148699 and R01CA159859), the Pediatric Brain Tumor Foundation, the Terry Fox Research Institute, and b.r.a.i.n.child. This work was also supported by a Program Project Grant from the Terry Fox Research Institute. 

    TFRI LINKS, Summer 2017
  • Vancouver team identifies new class of molecules with potential in treating metastatic prostate cancer

    by TFRI Admin | Sep 06, 2017

    TFRI Link photo

    A recent study by a prolific TFRI-funded team has demonstrated that disrupting ERG transcriptional activity is sufficient to suppress the major characteristics of ERG-transformed prostate cancers. The finding could help develop new therapeutic tools for men battling ERG-expressing metastatic castration-resistant prostate cancer.

    There are currently few agents targeting cancer metastasis, and the need to create new therapeutics for these patients is great. Led by Drs. Michael Cox, Artem Cherkasov, and Paul Rennie (Vancouver Prostate Centre), the present study (Oncotarget, April 2017) describes the first-in-class small molecule targeting the DNA binding domain of the ETS-family transcription factor, ERG.

    Approximately half of all prostate cancers have a recurrent genomic re-arrangement called the TMPRSS2-ERG gene fusion. Numerous studies have associated ERG expression with more aggressive disease characteristics and indicate that ERG drives a genomic reprogramming that promotes cell migration and invasion. The small molecule ERG antagonist, VPC-18005, directly binds to the DNA binding domain of the ERG protein. This inhibits ERG transcriptional activity and suppresses cell motility associated with metastatic spread of the disease.

    In addition, the team’s lead compound provided a novel tool for cancer researchers to dissect the specific cellular pathways that are dysregulated by ERG during disease initiation and progression. Understanding these pathways will likely guide development of the next generation of therapeutic strategies for treating advanced prostate cancer.

    The present study heavily utilized computer-aided drug discovery pipeline that is applicable to the development of therapeutic agents to antagonize cancer targets previously considered ‘undruggable’. While the group reported that VPC-18005 is stable and orally bio-available, with minimal toxicity in mouse models, there is a need to further refine the compound’s structure.

    The team is currently using in-silico predictive algorithms to guide the design and testing of medicinal chemistry derivatives. Such small molecule tools will be critical to developing selective agents for ERG and its related ETS family members and may lead to development of agents to target additional ETS family members known to be oncogenic drivers in other malignancies.

    The agents described are the first step in developing therapeutics specifically for those prostate cancer patients whose disease carries the TMPRSS2-ERG re-arrangement. These treatments may function as single agents, but can also be explored in combination with existing and emerging therapies for advanced prostate cancer. Future anti-ERG drugs can be specifically prescribed to the 50 per cent of prostate cancer patients who are ERG-positive, and pave the way for precision medicine.

    Prostate cancer is the third leading cause of cancer-related death in Canadian men, and one of the most common cancers for this demographic.

    Study: Discovery and characterization of small molecules targeting the DNA-binding ETS domain of ERG in prostate cancer

    Authors: Miriam S. Butler, Mani Roshan-Moniri1, Michael Hsing1, Desmond Lau, Ari Kim, Paul Yen, Marta Mroczek, Mannan Nouri1, Scott Lien, Peter Axerio-Cilies, Kush Dalal, Clement Yau, Fariba Ghaidi1, Yubin Guo, Takeshi Yamazaki, Sam Lawn, Martin E. Gleave, Cheryl Y. Gregory-Evans, Lawrence P. McIntosh, Michael E. Cox, Paul S. Rennie, and Artem Cherkasov.

    Funding: The project was supported in part by funds provided by Terry Fox New Frontiers Program Project Grant (#TFF116129 to M.E.C).

    TFRI LINKS, Summer 2017
  • Vaccine shows promise in models, eradicates intra-abdominal tumours in over 90 per cent of mice

    by TFRI Admin | Sep 06, 2017

    Auer-full shot

    Despite advances in chemotherapy and surgery, patients diagnosed with peritoneal carcinomatosis, a disseminated intra-abdominal tumour, usually succumb to their disease. But there’s good news: cancer researchers in Ontario have found that an oncolytic virus may lead to a promising new therapy option for these patients.

    Led by Drs. Rebecca Auer and John Bell (Ottawa Hospital Research Institute), the team used cancer cells infected ex-vivo with an oncolytic virus (Maraba expressing IL-12) delivered as a personalized cancer vaccine (MG1-IL12 infected cell vaccine). The virus infected the cancer cells and secreted the immune stimulating cytokine IL-12 (a potent stimulator of NK and T cell–mediated tumour cell killing) locally, resulting in migration of highly activated natural killer (NK) cells towards the vaccine and significant tumour regression in mice.

    The findings, published in Cancer Immunology Research (March 2017), suggested the vaccine was most effective when delivered in close proximity to the tumour, which is why a model of peritoneal carcinomatosis (one of the most common and challenging sites of metastases for abdominal malignancies) was selected for the study. Patients with this disease typically have a very poor prognosis, with a median survival rate of just six to 12 months.

    The results of the present study were impressive: in a model of disseminated colon cancer peritoneal carcinomatosis, the infected cell vaccine could eradicate bulky disease and lead to complete cures in more than 90 per cent of mice. However, when the vaccine did not express IL-12 – or when a non-replicating virus vaccine was used – efficacy was significantly weakened. This highlighted the importance of both aspects being present in the infected cell vaccine, as well as the value of T-cells and NK cells.

    This study also highlighted the importance of viral replication in therapeutic efficacy, and the team is currently investigating what aspects of viral infection of cancer cells makes them immunogenic to exploit this further. Looking forward, the group will explore how immune escape happens in those murine models where the vaccine demonstrates efficacy but does not lead to cures in the majority of animals. The present paper resulted in a grant from the Ontario Institute of Cancer Research to undertake enabling studies on manufacturing this virus from human cancer cells with the view of translating these findings into patients with peritoneal carcinomatosis in the near future.

    Study: NK-cell recruitment is necessary for eradication of peritoneal carcinomatosis with an IL12-expressing maraba virus cellular vaccine

    Authors: Almohanad A. Alkayyal, Lee-Hwa Tai, Michael A. Kennedy, Christiano Tanese de Souza, Jiqing Zhang, Charles Lefebvre, Shalini Sahi, Abhirami A. Ananth, Ahmad Bakur Mahmoud, Andrew P. Makrigiannis, Greg O. Cron, Blair Macdonald, E. Celia Marginean, David F. Stojdl, John C. Bell, and Rebecca C. Auer.

    Funding: This work was supported in part by a grant from the Terry Fox Research Institute.

     TFRI LINKS, Summer 2017

  • Study finds diffuse optical spectroscopic (DOS) texture features can predict breast cancer response prior to neoadjuvant chemotherapy

    by TFRI Admin | Sep 06, 2017


    Thanks to advances in imaging, oncologists may one day be able to determine if a patient responds to chemotherapy before receiving treatment. A recent study by a TFRI-funded team has shown that diffuse optical spectroscopic (DOS) texture features can predict breast cancer response to neoadjuvant chemotherapy (NAC) in locally advanced breast cancer patients before therapy even begins.

    Led by Dr. Greg Czarnota (Sunnybrook Health Sciences Centre, Ontario), and published in The British Journal of Cancer (April 2017, Dr. William Tran first author), the finding has the potential to guide treatment, improve breast cancer therapeutics, and may even improve overall disease-free survival. Breast cancer is the second leading cause of cancer-related death in women, and nearly 20 per cent of diagnoses are of locally advanced breast cancer – with only half of patients surviving beyond five years.

    Previous research by Dr. Czarnota’s team demonstrated that DOS imaging was capable of monitoring response to neoadjuvant chemotherapy in patients with locally advanced breast cancer. In the present study, researchers set out to evaluate texture features of pre-treatment DOS maps as a way of predicting patient response to NAC.

    Thirty-seven locally advanced breast cancer patients with a median age of 50 were identified, imaged before treatment and categorized as either a responder or a non-responder based on ultimate pathological data.  Breast tissue parametric maps were constructed and texture analyses were performed based on grey-level co-occurrence matrices for feature extraction.

    The results were impressive: for the first time, it was demonstrated that textural heterogeneities in DOS measures of haemoglobin and oxygen content in breast tumours predict NAC response with high accuracy. DOS-based textural parametrics show significant potential as a way of measuring baseline tumour heterogeneity, as well as for markers to measure patient response to chemotherapy treatment. These markers could help personalize medicine for women with breast cancer, and may prevent those who will not respond to therapy from undergoing cytotoxic chemotherapy, guiding these patients instead to alternative treatments.

    Study: Predicting breast cancer response to neoadjuvant chemotherapy using pre-treatment diffuse optical spectroscopic texture analysis

    Authors: William T. Tran, Mehrdad J. Gangeh, Lakshmanan Sannachi, Lee Chin, Elyse Watkins, Silvio G Bruni, Rashin Fallah Rastegar, Belinda Curpen, Maureen Trudeau, Sonal Gandhi, Martin Yaffe, Elzbieta Slodkowska, Charmaine Childs, Ali Sadeghi-Naini and Gregory J. Czarnota.

    Funding:  This project was funded by the Terry Fox Research Institute, Canada.

    TFRI LINKS, Summer 2017
  • Why does relapse occur in aggressive leukemia? Canadian researchers crack the case

    by TFRI Admin | Sep 06, 2017


    For decades scientists and physicians have wondered what causes some people with cancer to relapse after an apparently successful course of treatment. Now a team of Canadian cancer researchers has discovered the answer to this age-old question, showing that rare and therapy-resistant leukemia stem cells are already present at diagnosis – well before any treatment has begun - in patients who experience relapses of acute myeloid leukemia (AML).

    The team, led by TFRI-funded Dr. John Dick (a senior scientist at Princess Margaret Cancer Centre), recently had their findings published in Nature (June 2017). There are two distinct cancer stem cell populations that can lead to relapse in AML, the paper suggests, rare therapy-resistant cells present at diagnosis that have the ability to regrow the disease in patients. AML is the deadliest form of leukemia, with cure rates significantly lower than some other forms of the disease.

    The team used an innovative, two-part approach for the study. Paired patient samples of blood taken at the initial clinic visit before treatment as well as after treatment when the disease recurred were analyzed to see what similarities and differences existed between samples. Detailed genetic studies were undertaken, and whole genome sequencing was used to examine every part of the DNA at diagnosis and at relapse to see in which cells genetic changes were occurring.

    Most people diagnosed with AML have 10 mutations in their leukemia cells, while some normal stem cells have up to three different mutations. Researchers in the present study were able to determine which mutations were only seen at relapse, using the team’s pre-existing knowledge of leukemic and normal stem cells to discover two cells types that can cause relapse.

    This finding builds onto a paper the team published in Nature in December 2016, which discovered a 17-gene signature derived from leukemia stem cells to predict at diagnosis which AML patients will respond to standard treatment and which will not. These new biomarkers have the potential to lead to clinical trials for targeted types of chemotherapy, compared to the one size fits all treatment AML patients currently receive.  

    Study: Tracing the origins of relapse in acute myeloid leukemia to stem cells

    Authors: Liran I. Shlush, Amanda Mitchell1, Lawrence Heisler, Sagi Abelson, Stanley W. K. Ng, Aaron Trotman-Grant, Jessie J. F. Medeiros, Abilasha Rao-Bhatia, Ivana Jaciw-Zurakowsky, Rene Marke, Jessica L. McLeod, Monica Doedens, Gary Bader, Veronique Voisin, ChangJiang Xu, John D. McPherson, Thomas J. Hudson, Jean C. Y. Wang, Mark D. Minden & John E. Dick.

    Funding: This work was supported by grants from the Ontario Institute for Cancer Research with funds from the Province of Ontario, the Cancer Stem Cell Consortium with funding from the Government of Canada through Genome Canada and the Ontario Genomics Institute (OGI-047), and the Canadian Institutes of Health Research (CSC-105367), the Canadian Cancer Society, The Terry Fox Foundation, a Canada Research Chair to J.E.D. L.I.S. was funded by the Benjamin Pearl Fellowship from the McEwen Centre for Regenerative Medicine and an American Society of Hematology Scholar Award. This research was funded in part by the Ontario Ministry of Health and Long-Term Care, whose views are not expressed here.

    TFRI LINKS, Summer 2017 

  • TP53 polymorphisms and MDM2 SNP309 are not correlated with pre-menopausal cancer risk, study suggests

    by TFRI Admin | Sep 06, 2017


     While significant accolades are given to scientists who discover genetic mutations that are linked to cancer, it is equally important to determine factors that are not correlated – something that is the focus of a new Canadian study team investigating polymorphisms and risk of pre-menopausal breast cancer.

    Only around five per cent of women diagnosed with breast cancer are under the age of 40, and of this population around five to eight per cent carry a germline (hereditary) mutation to the tumour suppressor gene. However, little research has been done on why early-onset breast cancer occurs in women without any apparent hereditary link. Hence, the study authors  (Human Mutation, January 2017) set out to examine the composite effects of TP53 variants (TP53 PIN3 and SNP309 of MDM2) on early-onset cancer risk in women without mutations to TP53 or the hereditary breast cancer-associated genes, BRCA1 and BRCA2.

    Led by Dr. David Malkin (The Hospital for Sick Children, Toronto), they assessed the spectrum of polymorphisms in TP53 and its negative regulatory gene, MDM2 in 40 female patients with pre-menopausal breast cancer. No significant correlation was found, and while one polymorphism was frequently found in the cohort, it was not associated with the risk of developing cancer before the age of 35 years in an extended cohort of 1,420 breast cancer cases. The study (first author Dr. Nardin Samuel) also showed that functional studies of the rs1800372:A>G polymorphic allele reveal it does not affect p53 transactivation function.

    While these findings suggest early-onset breast cancer is believed to be related to strong genetic predisposition, this cannot be attributed to TP53 polymorphisms alone, or MDM2 SNP309:T>G in the population surveyed. Many patients in the study’s cohort had an extensive familial – and often personal –  history of cancer despite testing negative for pathogenic mutations in TP53, and it is possible underlying genetic susceptibilities may exist. For example, polymorphic variants that contribute to risk may exist in the well-known cancer susceptibility genes CDH1, PTEN, STK11, and NF1.

    Looking forward, researchers suggest genome-wide sequencing of germline mutations and variants in larger patient cohorts may be a good approach to identifying novel driver genes. Further, continuing the search for answers in the underlying heritability of early-onset breast cancer risk will be crucial to better understand why some women get cancer at such a young age.

    Study: Assessment of TP53 polymorphisms and MDM2 SNP309 in pre-menopausal breast cancer risk

    Authors: Nardin Samuel, Badr Id Said, Tanya Guha, Ana Novokmet, Weili Li, Laxmi Silwal-Pandit, Anne-Lise Børrsen-Dale, Anita Langerød, Thomas J. Hudson, and David Malkin.

    Funding: Contract grant sponsors: Canadian Institutes for Health Research (CIHR); The Terry Fox Research Institute/Foundation; SickKids Foundation; Ontario Institute for Cancer Research, Ontario Ministry of Research and Innovation (Senior Investigator Award); Vanier Canada Graduate Scholarship through CIHR.

    TFRI LINKS, Summer 2017
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