Genetic and Bioinformatic analyses of candidate hereditary cancer risk genes - HGEN 396 Undergraduate Research Project Application Form

Supervisor's Name: Patricia Tonin

Supervisor's Email: patricia.tonin [at]

Supervisor's Phone: 514-934-1934 x 44069

Supervisor's Website:

Supervisor's department: Human Genetics

Course number: HGEN 396 (Human Genetics)

Term: Winter 2018

Project start date: Monday, January 8, 2018

Project end date: Monday April 16, 2018

Project title: Genetic and Bioinformatic analyses of candidate hereditary cancer risk genes

Project description (50-100 words suggested): Candidate cancer risk genes have been identified by whole exome sequencing analysis of blood DNA from familial ovarian cancer cases from a demographically defined population that exhibits strong founder effects. In the context of ongoing research aimed at identifying new heritable high risk predisposing factors for ovarian cancer, the student will learn about how genes are selected for further research among the extensive list of potential gene candidates that were derived from applying the state-of–the-art next generation sequencing technology. The project will involve learning how to gather data from various available bioinformatics resources to prioritize the selection of candidates for further research. Resources include those containing of allele frequencies derived from demographically defined populations, molecular genetic and genomic profiles of cancer specimens, and various in silico programs that are used to infer the consequences of mutations on protein function. If time permits (and with appropriate completion of certified training), the student may also learn to perform mutation screening assays of DNA from available ovarian cancer biobanks to further assess candidacy of a selected proposed new risk allele.

Prerequisite: 1 term completed at McGill + CGPA of 3.0 or higher; or permission of instructor.

Grading scheme (The final report must be worth at least 50% of final grade): Final grade shall be based on an evaluation of laboratory (or equivalent) performance (40%), a final written report (50%), and an oral presentation (10%) by the supervisor. Details of the evaluation scheme will be provided by HGEN to supervisors and applicants

Other project information: This course is open to one or two students.

Project status: This project is open to applicant.

How students can apply / Next steps: For HGEN: After all of the parts of this application forms are completed and the hard copy is signed by the professor and the student, return the application form with a copy of your unofficial transcript to Mr Ross MacKay in the Department of Human Genetics (electronically or hardcopy; see for contact information).

Ethics, safety, and training: Supervisors are responsible for the ethics and safety compliance of undergraduate students. This project involves: Biohazardous substances