| Title |
Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens
|
|---|---|
| Published in |
Familial Cancer, February 2017
|
| DOI | 10.1007/s10689-017-9973-1 |
| Pubmed ID | |
| Authors |
Mohammad R. Akbari, Shiyu Zhang, Deborah Cragun, Ji-Hyun Lee, Domenico Coppola, John McLaughlin, Harvey A. Risch, Barry Rosen, Patricia Shaw, Thomas A. Sellers, Joellen Schildkraut, Steven A. Narod, Tuya Pal |
| Abstract |
A high proportion of ovarian cancers from women who carry germline mutations in mismatch repair (MMR) genes demonstrate microsatellite instability (MSI). The utility of pre-screening ovarian cancer specimens for MSI to identify potential patients for germline screening for MMR mutations is uncertain. 656 women with malignant ovarian cancer underwent both MSI testing and germline mutation testing for large rearrangements in three MMR genes, MLH1, MSH2 and MSH6. Germline DNA sequencing data for the same genes was available. Among the 656 women, only four (0.6%) carried a clearly pathogenic MMR mutation. All four cancers from patients with mutations had loss of two or more microsatellite markers (MSI-high). Eighty-four of 652 (13.0%) women without a mutation had MSI-high ovarian cancers. Using MSI-high as a prescreening criterion, the sensitivity of MSI testing to identify germline MMR gene mutations was 100% and the positive predictive value was 4.5%. Germline mutations in MLH1, MSH2 and MSH6 are rare among unselected cases of ovarian cancer. Patients with germline mutations often will have MSI-positive cancers and pre-screening of ovarian cancer specimens may be an efficient way of identifying patients with Lynch syndrome. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 50% |
| Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 32 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 7 | 22% |
| Student > Master | 5 | 16% |
| Other | 4 | 13% |
| Student > Postgraduate | 2 | 6% |
| Student > Ph. D. Student | 1 | 3% |
| Other | 3 | 9% |
| Unknown | 10 | 31% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 9 | 28% |
| Agricultural and Biological Sciences | 4 | 13% |
| Medicine and Dentistry | 4 | 13% |
| Engineering | 1 | 3% |
| Unknown | 14 | 44% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 16 February 2017.
All research outputs
#14,793,658
of 22,953,506 outputs
Outputs from Familial Cancer
#324
of 567 outputs
Outputs of similar age
#239,213
of 420,233 outputs
Outputs of similar age from Familial Cancer
#5
of 8 outputs
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