Pancreatic Mutation Identification Survey


Dear Genetic Counsellor:

In this survey, you will be shown twenty to twenty-five real pedigrees where the proband has been diagnosed with pancreatic cancer and asked to provide an estimate from 0 to 100% of the likelihood that the proband carries a pathogenic mutation in BRCA1 or BRCA2. These probands were recruited prospectively in an unselected manner from a multidisciplinary pancreatic cancer clinic. You will also be asked to provide basic demographic data.

All probands have been diagnosed with pancreatic adenocarcinoma. Where there was additional pathological information, for example, rhabdoid features, this is also provided.

Each proband's ethnicity is provided. Ashkenazi Jewish probands are specifically identified as such.

Cancer diagnoses are provided under the individuals in the pedigrees as "diagnosis age (source of diagnosis)", for instance, "pancreatic adenocarcinoma 86 (PA)". The source of diagnosis is as follows:

PA: Pathology reports
MR: Medical record
HX: History alone
AR: Autopsy report
DC: Death certificate
OCR: Ontario Cancer Registry.

Otherwise, the pedigrees follow the recommended nomenclature of the National Society of Genetic Counsellors.

Click on this link to go to the survey:

If the survey has been answered the maximum number of times, please refresh this page and try the next survey


Robert Grant, Spring Holter, Ayelet Borgida, and Steven Gallinger

Mount Sinai Hospital, Toronto, Canada.