Is it all Lynch syndrome?: An assessment of family history in individuals with mismatch repair–deficient tumors | Zendy

Katherine M. Dempsey | Zendy; Russell R. Broaddus | Zendy; Y. Nancy You | Zendy; Sarah Noblin | Zendy; Maureen E. Mork | Zendy; Bryan Fellman | Zendy; Diana L. Urbauer | Zendy; Molly S. Daniels | Zendy; Karen H. Lu | Zendy

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Is it all Lynch syndrome?: An assessment of family history in individuals with mismatch repair–deficient tumors

Author(s) -

Katherine M. Dempsey,

Russell R. Broaddus,

Y. Nancy You,

Sarah Noblin,

Maureen E. Mork,

Bryan Fellman,

Diana L. Urbauer,

Molly S. Daniels,

Karen H. Lu

Publication year - 2014

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2014.131

Subject(s) - lynch syndrome , medicine , family history , colorectal cancer , mlh1 , oncology , cancer , dna mismatch repair

Mismatch repair-deficient (MMRD) colorectal cancer (CRC) and endometrial cancer (EC) may be suggestive of Lynch syndrome (LS). LS can be confirmed only by positive germ-line testing. It is unclear if individuals with MMRD tumors but no identifiable cause (MMRD+/germ-line-) have LS. Because LS is hereditary, individuals with LS are expected to have family histories of LS-related tumors. Our study compared the family histories of MMRD+/germ-line- CRC and/or EC patients with LS CRC and/or EC patients.

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