| Title |
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia
|
|---|---|
| Published in |
Familial Cancer, May 2017
|
| DOI | 10.1007/s10689-017-0004-z |
| Pubmed ID | |
| Authors |
A. M. Cock-Rada, C. A. Ossa, H. I. Garcia, L. R. Gomez |
| Abstract |
Germline mutations in BRCA1 and BRCA2 account for approximately 50% of inherited breast and ovarian cancers. Three founder mutations in BRCA1/2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. This study describes the frequency and type of germline mutations in hereditary breast and/or ovarian cancer genes in a referral cancer center in Colombia. Eighty-five women referred to the oncogenetics unit of the Instituto de Cancerologia Las Americas in Medellin (Colombia), meeting testing criteria for hereditary breast and ovarian cancer syndrome (NCCN 2015), who had germline testing with a commercial 25-gene hereditary cancer panel, were included in the analysis. Nineteen patients (22.4%) carried a deleterious germline mutation in a cancer susceptibility gene: BRCA1 (7), BRCA2 (8), PALB2 (1), ATM (1), MSH2 (1) and PMS2 (1). The frequency of mutations in BRCA1/2 was 17.6%. One BRCA2 mutation (c.9246dupG) was recurrent in five non-related individuals and is not previously reported in the country. Seventeen mutation-carriers had a diagnosis of breast cancer (median age of diagnosis of 36 years) and two of ovarian cancer. All BRCA1 mutation-carriers with breast cancer had triple negative tumors (median age of diagnosis of 31 years). Variants of unknown significance were reported in 35% of test results. This is the first report of a multi-gene study for hereditary breast and/or ovarian cancer in a Latin American country. We found a high frequency and a wide spectrum of germline mutations in cancer susceptibility genes in Colombian patients, some of which were not previously reported in the country. We observed a very low frequency of known Colombian founder BRCA1/2 mutations (1.2%) and we found mutations in other genes such as PALB2, ATM, MSH2 and PMS2. Our results highlight the importance of performing multi-gene panel testing, including comprehensive BRCA1/2 analysis (full gene sequencing and large rearrangement analysis), in high-risk breast and/or ovarian cancer patients in Colombia. |
X Demographics
The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Colombia | 2 | 67% |
| Unknown | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 113 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 113 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 17 | 15% |
| Student > Bachelor | 14 | 12% |
| Student > Master | 13 | 12% |
| Student > Ph. D. Student | 12 | 11% |
| Other | 10 | 9% |
| Other | 22 | 19% |
| Unknown | 25 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 31 | 27% |
| Biochemistry, Genetics and Molecular Biology | 27 | 24% |
| Agricultural and Biological Sciences | 8 | 7% |
| Nursing and Health Professions | 4 | 4% |
| Psychology | 2 | 2% |
| Other | 12 | 11% |
| Unknown | 29 | 26% |
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 21 July 2017.
All research outputs
#14,936,169
of 22,973,051 outputs
Outputs from Familial Cancer
#329
of 567 outputs
Outputs of similar age
#185,591
of 311,973 outputs
Outputs of similar age from Familial Cancer
#12
of 22 outputs
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