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Title: Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon

Abstract

Sub-Saharan Africa (SSA) has a high proportion of premenopausal hormone receptor negative breast cancer. Previous studies reported a strikingly high prevalence of germline mutations in BRCA1 and BRCA2 among Nigerian patients with breast cancer. It is unknown if this exists in other SSA countries. Breast cancer cases, unselected for age at diagnosis and family history, were recruited from tertiary hospitals in Kampala, Uganda and Yaounde, Cameroon. Controls were women without breast cancer recruited from the same hospitals and age-matched to cases. A multigene sequencing panel was used to test for germline mutations. There were 196 cases and 185 controls with a mean age of 46.2 and 46.6 years for cases and controls, respectively. Among cases, 15.8% carried a pathogenic or likely pathogenic mutation in a breast cancer susceptibility gene: 5.6% in BRCA1, 5.6% in BRCA2, 1.5% in ATM, 1% in PALB2, 0.5% in BARD1, 0.5% in CDH1, and 0.5% in TP53. Among controls, 1.6% carried a mutation in one of these genes. Cases were 11-fold more likely to carry a mutation compared with controls (OR = 11.34; 95% confidence interval, 3.44-59.06; P < 0.001). The mean age of cases with BRCA1 mutations was 38.3 years compared with 46.7 years amongmore » other cases without such mutations (P = 0.03). Our findings replicate the earlier report of a high proportion of mutations in BRCA1/2 among patients with symptomatic breast cancer in SSA. Furthermore, given the high burden of inherited breast cancer in SSA countries, genetic risk assessment could be integrated into national cancer control plans.« less

Authors:
 [1];  [1];  [2];  [3];  [4];  [5]; ORCiD logo [1];  [1];  [6]; ORCiD logo [6]; ORCiD logo [7]; ORCiD logo [1];  [1]
  1. University of Chicago, IL (United States)
  2. Hôpital Général Yaoundé (Cameroon)
  3. St. Augustine International University, Kampala (Uganda)
  4. Mulago Hospital, Kampala (Uganda)
  5. Color Genomics, Burlingame, CA (United States)
  6. University of Chicago, IL (United States); Argonne National Laboratory (ANL), Lemont, IL (United States)
  7. University of Chicago, IL (United States); Yale School of Medicine, New Haven, CT (United States)
Publication Date:
Research Org.:
Argonne National Lab. (ANL), Argonne, IL (United States)
Sponsoring Org.:
National Institutes of Health (NIH)
OSTI Identifier:
1632849
Grant/Contract Number:  
AC02-06CH11357
Resource Type:
Accepted Manuscript
Journal Name:
Cancer Epidemiology, Biomarkers and Prevention
Additional Journal Information:
Journal Volume: 29; Journal Issue: 2; Journal ID: ISSN 1055-9965
Country of Publication:
United States
Language:
English
Subject:
60 APPLIED LIFE SCIENCES; BRCA1; BRCA2; breast cancer; multi-gene sequencing panel; sub-Saharan Africa

Citation Formats

Adedokun, Babatunde, Zheng, Yonglan, Ndom, Paul, Gakwaya, Antony, Makumbi, Timothy, Zhou, Alicia Y., Yoshimatsu, Toshio F., Rodriguez, Alex, Madduri, Ravi K., Foster, Ian T., Sallam, Aminah, Olopade, Olufunmilayo I., and Huo, Dezheng. Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon. United States: N. p., 2019. Web. https://doi.org/10.1158/1055-9965.epi-19-0506.
Adedokun, Babatunde, Zheng, Yonglan, Ndom, Paul, Gakwaya, Antony, Makumbi, Timothy, Zhou, Alicia Y., Yoshimatsu, Toshio F., Rodriguez, Alex, Madduri, Ravi K., Foster, Ian T., Sallam, Aminah, Olopade, Olufunmilayo I., & Huo, Dezheng. Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon. United States. https://doi.org/10.1158/1055-9965.epi-19-0506
Adedokun, Babatunde, Zheng, Yonglan, Ndom, Paul, Gakwaya, Antony, Makumbi, Timothy, Zhou, Alicia Y., Yoshimatsu, Toshio F., Rodriguez, Alex, Madduri, Ravi K., Foster, Ian T., Sallam, Aminah, Olopade, Olufunmilayo I., and Huo, Dezheng. Mon . "Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon". United States. https://doi.org/10.1158/1055-9965.epi-19-0506. https://www.osti.gov/servlets/purl/1632849.
@article{osti_1632849,
title = {Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon},
author = {Adedokun, Babatunde and Zheng, Yonglan and Ndom, Paul and Gakwaya, Antony and Makumbi, Timothy and Zhou, Alicia Y. and Yoshimatsu, Toshio F. and Rodriguez, Alex and Madduri, Ravi K. and Foster, Ian T. and Sallam, Aminah and Olopade, Olufunmilayo I. and Huo, Dezheng},
abstractNote = {Sub-Saharan Africa (SSA) has a high proportion of premenopausal hormone receptor negative breast cancer. Previous studies reported a strikingly high prevalence of germline mutations in BRCA1 and BRCA2 among Nigerian patients with breast cancer. It is unknown if this exists in other SSA countries. Breast cancer cases, unselected for age at diagnosis and family history, were recruited from tertiary hospitals in Kampala, Uganda and Yaounde, Cameroon. Controls were women without breast cancer recruited from the same hospitals and age-matched to cases. A multigene sequencing panel was used to test for germline mutations. There were 196 cases and 185 controls with a mean age of 46.2 and 46.6 years for cases and controls, respectively. Among cases, 15.8% carried a pathogenic or likely pathogenic mutation in a breast cancer susceptibility gene: 5.6% in BRCA1, 5.6% in BRCA2, 1.5% in ATM, 1% in PALB2, 0.5% in BARD1, 0.5% in CDH1, and 0.5% in TP53. Among controls, 1.6% carried a mutation in one of these genes. Cases were 11-fold more likely to carry a mutation compared with controls (OR = 11.34; 95% confidence interval, 3.44-59.06; P < 0.001). The mean age of cases with BRCA1 mutations was 38.3 years compared with 46.7 years among other cases without such mutations (P = 0.03). Our findings replicate the earlier report of a high proportion of mutations in BRCA1/2 among patients with symptomatic breast cancer in SSA. Furthermore, given the high burden of inherited breast cancer in SSA countries, genetic risk assessment could be integrated into national cancer control plans.},
doi = {10.1158/1055-9965.epi-19-0506},
journal = {Cancer Epidemiology, Biomarkers and Prevention},
number = 2,
volume = 29,
place = {United States},
year = {2019},
month = {12}
}

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