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"Ferber, Mathew"
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ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)
by
Hegde, Madhuri
,
Ferber, Mathew
,
Samowitz, Wade
in
631/208/2489/1512
,
692/699/67/1504/1885
,
acmg-standards-and-guidelines
2014
Lynch syndrome, familial adenomatous polyposis, and Mut Y homolog (MYH)-associated polyposis are three major known types of inherited colorectal cancer, which accounts for up to 5% of all colon cancer cases. Lynch syndrome is most frequently caused by mutations in the mismatch repair genes
MLH1
,
MSH2
,
MSH6
, and
PMS2
and is inherited in an autosomal dominant manner. Familial adenomatous polyposis is manifested as colonic polyposis caused by mutations in the
APC
gene and is also inherited in an autosomal dominant manner. Finally, MYH-associated polyposis is caused by mutations in the
MUTYH
gene and is inherited in an autosomal recessive manner but may or may not be associated with polyps. There are variants of both familial adenomatous polyposis (Gardner syndrome—with extracolonic features—and Turcot syndrome, which features medulloblastoma) and Lynch syndrome (Muir–Torre syndrome features sebaceous skin carcinomas, and Turcot syndrome features glioblastomas). Although a clinical diagnosis of familial adenomatous polyposis can be made using colonoscopy, genetic testing is needed to inform at-risk relatives. Because of the overlapping phenotypes between attenuated familial adenomatous polyposis, MYH-associated polyposis, and Lynch syndrome, genetic testing is needed to distinguish among these conditions. This distinction is important, especially for women with Lynch syndrome, who are at increased risk for gynecological cancers. Clinical testing for these genes has progressed rapidly in the past few years with advances in technologies and the lower cost of reagents, especially for sequencing. To assist clinical laboratories in developing and validating testing for this group of inherited colorectal cancers, the American College of Medical Genetics and Genomics has developed the following technical standards and guidelines. An algorithm for testing is also proposed.
Genet Med
16
1, 101–116.
Journal Article
What's in store for in-store banking?
2009
According to the FDIC, the number of traditional retail branches in the U.S. grew by 0.4% to 99,546 as of June 30 from 99,164 at June 30, 2008. David Kerstein, president of bank consultancy Peak Performance Consulting Group in Austin, Texas, believes that the slowdown in in-store branching is not only a function of cost-cutting associated with the economic downturn, but may also be attributed to market saturation and the ongoing trend toward grocery store consolidation.
Trade Publication Article