The following is an excerpt from the as yet unpublished Cambridge meeting. The paper has just been accepted by the Journal of Medical Genetics and will be published early in the new year.
“There is also emerging evidence for an increased risk of colon cancer in HDGC families, and these colon cancers can display signet ring cell features (personal communications David Huntsman and Paul Pharoah). In CDH1 families in which colon cancer is reported information should be collected concerning the age at diagnosis, whether the affected member(s) are first or second degree relatives and whether the pathology was mucinous or showed signet ring cells. Depending on these factors enhanced screening should be considered with colonoscopy beginning at age 40 or 10 years younger than the youngest diagnosis of colon cancer, whichever is younger, and repeated at intervals of 3-5 years. It is imperative that data on colonoscopic screening in these individuals is collated so that these guidelines can be evidenced based in the future”.
Fitzgerald et al (2010) J.Med. Genet. in press.
Know your family history. Be proactive. Talk to your doctor about the health screenings that are appropriate for you.
It was only after my mom died of colon cancer in 2007 that we discovered the mutated CDH1 gene that caused my brother’s demise at 37 of gastric cancer in 1988 and my own stomach cancers in 1992 (partial gastrectomy chemo and radiation) and 1997 ( TG) After much study Dr Huntsman confirmed a mutation that caused our HDGC. Now at least our other family members can be vigilantly screened. My mom’s colon cancer was signet cell but we are unable to confirm that she too carried the mutation. Regretably my dad died in 2001 of complications of Parkinsons. This does really interest me because I have had a few colon screenings and had polyps removed each time.