In 1994, at age 27, Keira Berman became acutely ill with what she thought was the flu. She also had blood in her stool, an issue she had dealt with since childhood and assumed to be a reaction to certain foods. Berman’s physician sent her to a gastroenterologist, who detected thousands of polyps in her colon via colonoscopy.
Neither her gastroenterologist nor his pathologist knew what the polyps were, so they sent slides to several universities, Berman recalls. Johns Hopkins University responded that, based on her age and the number of polyps in her colon, the New Jersey resident likely had a relatively rare hereditary syndrome known as familial adenomatous polyposis (FAP).
The impact of the diagnosis was dramatic. Informed that the polyps in her colon would likely become cancerous soon, Berman underwent a total colectomy and ileoanal anastomosis surgery to construct a J pouch for waste elimination. In the years that followed, FAP affected almost every aspect of her life, from the foods she could eat to her decision to have a family.
Read More: http://www.curetoday.com/publications/cure/2015/colorectal-cancer-special-issue/Hand-Me-Down-Genes
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This is what I can find about it from NCBI:
"This variant is denoted MSH2 c.1182T>G at the cDNA level, p.Phe394Leu (F394L) at the protein level, and results in the change of a Phenylalanine to a Leucine (TTT>TTG) in exon 7. This variant has not, to our knowledge, been published in the literature as either a mutation or a benign polymorphism. MSH2 Phe394Leu was not observed at a significant allele frequency in the NHLBI Exome Variant Server. This variant is a conservative substitution of one neutral non-polar amino acid for another, altering a position that is well conserved throughout evolution and is located in the Lever domain and the region of interaction with MSH6 and MSH3 (Lutzen 2008). In silico analyses are inconsistent with regard to the effect this variant may have on protein structure and function. Based on the currently available information, we consider MSH2 Phe394Leu to be a variant of unknown significance. The variant is found in BR-OV-HEREDIC,HEREDICANCER panel(s)."
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