/ News / spotlight / 201504230941-ltri-q-a-how-do-we-predict-breast-cancer-risk-more-effectively

LTRI Q&A: How do we predict breast cancer risk more effectively?


As researchers uncover more genetic links to breast cancer, and with women paying more attention to these and other risk factors, two LTRI scientists are part of an international team that are digging deeper into new gene variants that can put a person at increased risk for breast cancer.

The image above is a stain of a breast tumour. The dark purple cells with large blue nuclei are the cancer cells invading into the lymphovascular blood vessels (the large white empty space). The lighter pink cells are normal breast tissue cells. Patients that are positive for lymphovascular invasion have a higher likelihood of a recurrence of the disease.

As recently reported in the journal Nature Genetics, Drs. Irene Andrulis and Julia Knight collaborated with an international group of cancer researchers, called the Breast Cancer Association Consortium, to identify 15 new gene variants that can put a person at increased risk for breast cancer.

Although the new gene variants are not as well-known as the BRCA1 or BRCA2 mutations, these new genes still pose a significant risk for breast cancer, with the potential to impact how women are screened for the disease.

In this Q&A with both Drs. Andrulis and Knight, we take a closer look at what their recent findings mean for the field of breast cancer, and why the findings are important for predicting breast cancer risk.

Q. People are familiar with the BRCA1 and BRCA 2 genes, thanks in part to celebrity Angelina Jolie, but why is it important to study these other gene variants?

A. For the BRCA 1 and BRCA2 genes, we now know what the proteins do, and what effect the mutations may have in relation to risk for breast cancer. The common variants that we studied are different because individually, they pose a very small risk. But when you group them together, they have a larger effect on a person’s risk for breast cancer. Previous studies identified 79 different common variants, which we refer to as SNPs, associated with breast cancer - with this study, we’d added 15 more, which will improve accuracy of predictions.

Q. It looks like the Breast Cancer Association Consortium studied a huge number of breast cancer cases for this large-scale meta-analysis. Can you explain why the study was set up this way?

A. The breast cancer risk associated with each individual common SNP variant is very low, compared to mutations in BRCA1 or BRCA2, so we have to use very large-scale studies with a huge cohort of patients to pool the data and study the effects of these gene variants. The data has been pooled from centres from around the world, so we’ve been able to look at DNAs from over 120,000 women.

Q. Why was this Nature Genetics study significant?

A. Previously, the international consortium that we are a part of, had already identified some gene variants that are associated with breast cancer risk, and more were identified in this study, because more women were studied and additional techniques were used for analysis. Now we also have more advanced molecular technologies, or platforms, that allow us to do that effectively.

This Nature Genetics paper also led to another study that the group just published in the Journal of the National Cancer Institute (JNCI), where we’re striving to refine the current screening model that is in use by clinicians when assessing a person’s risk for breast cancer. The model takes into account the age of the woman, her family history, and other components that we already know that are related to risk in breast cancer, but now we have added the common gene variants, these new SNPs, which we’ve uncovered. The new JNCI paper also shows how at different ages you can use these SNPs to better predict risk. For example, screening may be more effective for a particular individual in her 40s, compared to someone else of the same age but with a different risk profile. We will be able to better tailor screening and prevention for women based on their risk assessment. 

Q. What are you working on next?

A. The idea is to continue to identify gene variants that will give the best predictor of cancer risk. The predictor of risk for cancer is not only based on these SNPs, but will also take into account other cancer susceptibility genes (such as BRCA 1, BRCA2 and intermediate risk breast cancer susceptibility genes), as well as other factors like breast density, lifestyle, etc. to give us an overall risk assessment for a person.

Currently, Dr. Andrulis is part of a team, led by Drs. Jacques Simard and Bartha Knoppers from Quebec, who are trying to figure out how to move all of this information from the research laboratory into shaping health policy. This effort is funded by a grant from Genome Canada. An example of this would be improving guidelines for breast cancer screening. The goal is to try to give women a better idea of their risk and to determine how often women should be going for screening. This is where the research is leading.



By Sandeep Dhaliwal

  About Us
   Senior Administration
   Research Committee
   Canada Research Continuity Emergency Fund
    Funding Opportunities
     CRCEF - Stage 3
   Canada Research Chairs
   Technology Transfer
   Career Opportunities
    Dr. Irene L. Andrulis
    Dr. Rod Bremner
    Dr. Laurent Briollais
    Dr. Theodore J. Brown
    Dr. Shelley B. Bull
    Dr. Kieran Campbell
    Dr. Isabella Caniggia
    Dr. Robert F. Casper
    Dr. Graham L. Collingridge
    Dr. Sabine P. Cordes
    Dr. Joseph Culotti
    Dr. James Dennis
    Dr. Daniel J. Drucker
    Dr. Daniel Durocher
    Dr. Steven Gallinger
    Dr. Anne-Claude Gingras
    Dr. Pamela Goodwin
    Dr. Marc D. Grynpas
    Dr. Rayjean J. Hung
    Dr. Hartland W. Jackson
    Dr. Andrea Jurisicova
    Dr. Julia A. Knight
    Dr. Alexander G. Logan
    Dr. Stephen J. Lye
    Dr. Andras Nagy
    Dr. Michelle Nelson
    Dr. Kenichi Okamoto
    Dr. Laurence Pelletier
    Dr. Miguel Ramalho-Santos
    Dr. Frederick P. Roth
    Dr. Daniel Schramek
    Dr. Frank Sicheri
    Dr. Mark S. Silverberg
    Dr. Katherine Siminovitch
    Dr. Carolyn Steele Gray
    Dr. Ross Upshur
    Dr. Jim R. Woodgett
    Dr. Jeffrey Wrana
    Dr. Mei Zhen
    Dr. Bernard Zinman
   Clinician Scientists
    Dr. May Alarab
    Dr. Dominic Amato
    Dr. Amir Azarpazhooh
    Dr. Mrinalini Balki
    Dr. Chaim Bell
    Dr. Christine Brezden-Masley
    Dr. June C. Carroll
    Dr. Crystal Chan
    Dr. Kenneth Croitoru
    Dr. Ariel Dalfen
    Dr. Allan Detsky
    Dr. Brendan C. Dickson
    Dr. Rohan D. D’Souza
    Dr. Denice S. Feig
    Dr. Emer Finan
    Dr. John S. Floras
    Dr. Michael Fralick
    Dr. Shiphra R. Ginsburg
    Dr. Rebecca A. Gladdy
    Dr. Michael Goldberg
    Dr. Ellen Greenblatt
    Dr. Masoom A. Haider
    Dr. Jonathan J. Hunter
    Dr. Amna F. Husain
    Dr. Amish Jain
    Dr. Keith A. Jarvi
    Dr. Lianne P. Jeffs
    Dr. Jennie Johnstone
    Dr. Rita Kandel
    Dr. Edmond Kelly
    Dr. Erin D. Kennedy
    Dr. Edward C. Keystone
    Dr. James Khan
    Dr. John Kingdom
    Dr. Richard Kirsch
    Dr. Elena Kolomietz
    Dr. Caroline K. Kramer
    Dr. Stephen Lapinsky
    Dr. Shoo K. Lee
    Dr. Molyn Leszcz
    Dr. Susanna Mak
    Dr. Ann K. Malinowski
    Dr. Robert G. Maunder
    Dr. Taymaa May
    Dr. Allison McGeer
    Dr. Warren McIsaac
    Dr. Sangeeta Mehta
    Dr. Shikha Mittoo
    Dr. Ally Murji
    Dr. Kellie E. Murphy
    Dr. Geoffrey C. Nguyen
    Dr. Karel O'Brien
    Dr. Christian Pagnoux
    Dr. Claire Pain
    Dr. John Parker
    Dr. Bruce A. Perkins
    Dr. Allan Peterkin
    Dr. Aaron F. Pollett
    Dr. Paula Ravitz
    Dr. Albiruni A. Razak
    Dr. Ravi Retnakaran
    Dr. Robert H. Riddell
    Dr. Greg Ryan
    Dr. Joel Sadavoy
    Dr. Francisco J. Sanchez-Guerrero
    Dr. Amanda Selk
    Dr. Prakeshkumar Shah
    Dr. Vibhuti Shah
    Dr. Naveed Tahir Siddiqui
    Dr. Candice K. Silversides
    Dr. Daisy R. Singla
    Dr. Kim Tsoi
    Dr. Hillary A. Steinhart
    Dr. Carol Swallow
    Dr. Howard C. Tenenbaum
    Dr. Sharon L. Unger
    Dr. Chen Wang
    Dr. Alanna Weisman
    Dr. Virginia A. Wesson
    Dr. Lesley Wiesenfeld
    Dr. Rory Windrim
    Dr. Jay Wunder
    Dr. Alexandre Zlotta
   Staff Scientists
    Dr. Karen Colwill
    Dr. John Georgiou
    Dr. Colin Mckerlie
    Dr. Jinyi Zhang
   Associate Members / Scientists
    Dr. Gary D. Bader
    Dr. Bharati Bapat
    Dr. Marcus Bernardini
    Dr. Lisa D. Burry
    Dr. George S. Charames
    Dr. Mary Chiu
    Dr. Eleftherios P. Diamandis
    Dr. Sarah Ferguson
    Dr. Michael Glogauer
    Dr. Jack M. Goodman
    Dr. Tae Hart
    Dr. Johannes Keunen
    Dr. Jordan Lerner-Ellis
    Dr. Zhong-Cheng Luo
    Dr. Stephen G. Matthews
    Dr. John R. McLaughlin
    Dr. Helen McNeill
    Dr. Massieh Moayedi
    Dr. Abdul Noor
    Dr. Ian M. Rogers
    Dr. Mike Tyers
   Physician Directory
   Our Research
  Trainee Centre
   Summer Research Program
    Innovations in prostate cancer research during moustache season and beyond
    New genetic discoveries offer hope to IBD patients
    Diabetes: disease of the 21st century will affect approximately 500 million by 2030
    What does a worm’s nervous system tell us about disorders like Huntington’s Disease?
    The Year in Review: 2012 Highlights from the Samuel Lunenfeld Research Institute
    Millennials Help Scientists Transform Breast Cancer Research
    How Research Impacts Your Health
    2013 International Symposium: Frontiers in Diabetes Research
    $35 Million Gift from Larry and Judy Tanenbaum Launches Fundraising Drive for Endowment to Support Medical Research
    Director warns why we shouldn't neglect basic science in favour of applied science
    The anatomy of a major discovery
    Unravelling the mysteries of complex brain disorders
    LTRI Q&A: How do we predict breast cancer risk more effectively?
    Michal Zimmermann and his efforts to improve cancer drug efficacy
    Dheva Setiaputra
    Salomé Adam
   Discovery Corner
    Not your typical March Break: the life of an intern at the LTRI
   Slides relating to the recommendations of CANADA'S FUNDAMENTAL SCIENCE REVIEW