5 research outputs found
Genome-wide Linkage Scans of White pMMR Family Groups with HLOD Score>3.0.
<p>HLOD scores from genome-wide linkage scan of five white pMMR family subgroups. The blue line represents HLODs under the dominant model and the red line represents the HLODs under the recessive model. Maximum observed HLODs>3.0 (in parenthesis) are labeled with the nearest SNP in four regions. (A) Family mean age at diagnosis <50 years (N = 58). (B) All families (N = 356). (C) Families with four or more affected members (N = 67). (D) Clinic-based families (N = 88). (E) Families with two affected members (N = 200).</p
Summary of Colorectal Cancer Linkage Results with HLOD Scores>3.0.
a<p>Genotyped SNP nearest to the peak of the linkage region; distances are reported in bp based on the NCBI build 36.2 and Haldane cM.</p>b<p>Pseudo-gene.</p>c<p>Non-parametric Kong & Cox LOD.</p
Characteristics of 356 White Colorectal Cancer Families with No Evidence of Defective Mismatch Repair, N (%).
a<p>Ascertainment method not reported.</p>b<p>Microsatellite stability of the tumor; MSS indicates that the tumor was microsatellite stable; MSI-L indicates that the tumor had low microsatellite instability; Unknown indicates that the tumor stability status was not available.</p>c<p>Mismatch repair status of the tumor by immunohistochemical analysis; No loss indicates that the tumor showed complete presence of protein expression of all the MMR genes tested (MLH1, MSH2, MSH6, and PMS2); Unknown indicates that the tumor MMR-expression status was not available.</p>d<p>Unknown for both MSI and IHC on 67 families is due to not being tested but had a LOD<0.04 within 20 kb surrounding <i>MSH2</i>, <i>MLH1</i>, <i>MSH6</i>, <i>PMS2</i>, <i>PMS1</i>, <i>MSH3</i>, or <i>MLH3</i>.</p
Summary of Colorectal Cancer Linkage Results with Maximum Observed HLOD Scores between 2.0 and 3.0.
a<p>Genotyped SNP nearest to the peak of the linkage region; distances are reported based on the NCBI build 36.2 and Haldane cM.</p>b<p>SNP location and the distance in bp is given in regards to the nearest gene.</p>c<p>Ascertainment method not reported.</p>d<p>Pseudo-gene.</p
The overlap in the distribution of family groups.
<p>The overlap in the distribution of family groups.</p