Public Consultation: deadline Nov 25th - College of Physicians and Health (Emergencies)

Consultation
 

(direct link) We want to hear your thoughts on the current policy…

• Submit your comments to our discussion forum
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 link to online survey (survey monkey)

Feedback Deadline

Physicians and Health Emergencies Nov 25, 2016

The College is currently reviewing the Physicians and Health Emergencies policy, in accordance with our regular policy review cycle. The current policy was developed after the 2003 SARS epidemic and during the 2009 H1N1 pandemic to reaffirm the profession’s commitment to the public and colleagues in times of health emergencies.
We are reviewing the policy to determine how the policy can be improved in order to ensure it reflects current practice issues, embodies the values and duties of medical professionalism, and is consistent with the College’s mandate to protect the public. As part of the review, we are inviting feedback from the profession, the public and other stakeholders on the current policy. Visit the dedicated consultation page to view further information and provide your feedback.

Dr. Matthew Yurgelun on Pathogenic Mutations in CRC (Lynch+BRCA) video 2:03

Dr. Matthew Yurgelun (video)

 Matthew B. Yurgelun, MD, Targeted Oncology, Yurgelun, Instructor in Medicine, Harvard Medical School, discusses a recent study which uncovered BRCA1 and BRCA2 mutations as possible risk markers for colorectal cancer.

The study examined 1000 individuals with colorectal cancer who were seen at the Dana Farber Cancer Institute. The goal of the study was to try and understand what the prevalence of hereditary cancer susceptibility syndromes was in this patient population.

It was determined that 10% of patients in the cohort had pathogenic mutations in one or more cancer susceptibility genes. There was a 3.1% prevalence of Lynch syndrome, which fits with what has been seen in established literature, says Yurgelun. Virtually all of the patients who had Lynch syndrome had tumors with high-level microsatellite instability and mismatch repair deficiency, illustrating that the current processes for identifying Lynch syndrome among colorectal cancer patients seems to work

What was novel about the study however, was that 7.1% of patients with colorectal cancer had a mutation in the non-Lynch syndrome cancer susceptibility gene, says Yurgelun. These are patients who wouldn't be picked up by typical tumor testing, as tumor testing really just looks for evidence of Lynch syndrome. The most common high-penetrance finding in the cohort beyond Lynch syndrome was, surprisingly, mutations in BRCA1 and BRCA2, says Yurgelun.  These are genes that are not traditionally linked to risks of colorectal cancer. 

(connections to ovarian cancer noted) Genetic Predisposition to Endocrine Tumors: Diagnosis, Surveillance and Challenges in Care

Note: examples of (some) highlighted syndromes connected to ovarian cancer

abstract

  In this review, we describe the main endocrine tumor manifestations found in familial cancer syndromes in an organ-based approach

Abbreviations:
ACC (Adrenocortical carcinoma), BWS (Beckwith-Wiedemann syndrome), CHRPE (Congenital Hypertrophy of the Retinal Pigment Epithelium), CMV (Cribiform morullar variant of thyroid cancer), DTC (Differentiated thyroid cancer), ELST (Endolymphatic Sac Tumor), FAP (Familial Adenomatous Polyposis), FMTC (Familial Medullary Thyroid Cancer), GIST (Gastrointestinal Stromal Tumor), HPGL (Hereditary Paraganglioma Syndrome), HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer), LFS (Li-Fraumeni Syndrome), MEN1 (Multiple Endocrine Neoplasia type 1), MEN2 (Multiple Endocrine Neoplasia type 2), MNG (Multinodular Goiter), MNST (Malignant Nervesheath Tumor), MTC (Medullary Thyroid Carcinoma), NET (Neuroendocrine Tumor), NF1 (Neurofibromatosis type 1), NGS (Next Generation Sequencing), PCC (Pheochromocytoma), PGL (Paraganglioma), pHPT (Primary Hyperparathyroidism), PHTS (PTEN Hamartoma Tumor Syndrome), PPB (Pleuropulmonary Blastoma), RCC (Renal Cell Cancer), SDHx (Succinate Dehydrogenase Subunit (A,B,C,D,AF2)), SLCT (Sertoli Leydig Cell Tumor), VHL (von Hippel-Lindau Disease)