Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon.
Adult
BRCA1 Protein
/ genetics
BRCA2 Protein
/ genetics
Biomarkers, Tumor
/ genetics
Breast Neoplasms
/ epidemiology
Cameroon
/ epidemiology
Case-Control Studies
DNA Mutational Analysis
/ statistics & numerical data
Female
Genetic Predisposition to Disease
Germ-Line Mutation
High-Throughput Nucleotide Sequencing
/ statistics & numerical data
Humans
Middle Aged
Molecular Epidemiology
Prevalence
Uganda
/ epidemiology
Journal
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
ISSN: 1538-7755
Titre abrégé: Cancer Epidemiol Biomarkers Prev
Pays: United States
ID NLM: 9200608
Informations de publication
Date de publication:
02 2020
02 2020
Historique:
received:
04
05
2019
revised:
23
07
2019
accepted:
09
12
2019
pubmed:
25
12
2019
medline:
20
1
2021
entrez:
25
12
2019
Statut:
ppublish
Résumé
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 Breast cancer cases, unselected for age at diagnosis and family history, were recruited from tertiary hospitals in Kampala, Uganda and Yaoundé, 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 Our findings replicate the earlier report of a high proportion of mutations in Given the high burden of inherited breast cancer in SSA countries, genetic risk assessment could be integrated into national cancer control plans.
Sections du résumé
BACKGROUND
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
METHODS
Breast cancer cases, unselected for age at diagnosis and family history, were recruited from tertiary hospitals in Kampala, Uganda and Yaoundé, 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.
RESULTS
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
CONCLUSIONS
Our findings replicate the earlier report of a high proportion of mutations in
IMPACT
Given the high burden of inherited breast cancer in SSA countries, genetic risk assessment could be integrated into national cancer control plans.
Identifiants
pubmed: 31871109
pii: 1055-9965.EPI-19-0506
doi: 10.1158/1055-9965.EPI-19-0506
pmc: PMC7007381
mid: NIHMS1546820
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
BRCA2 Protein
0
BRCA2 protein, human
0
Biomarkers, Tumor
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
359-367Subventions
Organisme : NCI NIH HHS
ID : U01 CA161032
Pays : United States
Organisme : NIH HHS
ID : OT3 OD025458
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA228198
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG009018
Pays : United States
Organisme : NCI NIH HHS
ID : K12 CA139160
Pays : United States
Organisme : NCI NIH HHS
ID : U24 CA209996
Pays : United States
Informations de copyright
©2019 American Association for Cancer Research.
Références
N Engl J Med. 2009 Jul 9;361(2):123-34
pubmed: 19553641
J Clin Oncol. 2013 Jan 10;31(2):210-6
pubmed: 23233716
Hum Mutat. 2001;17(1):74
pubmed: 11139249
J Clin Oncol. 2002 Feb 15;20(4):994-9
pubmed: 11844822
N Engl J Med. 1997 May 15;336(20):1401-8
pubmed: 9145676
J Clin Oncol. 2001 Apr 15;19(8):2247-53
pubmed: 11304778
J Clin Oncol. 2015 Feb 1;33(4):304-11
pubmed: 25452441
Curr Opin Obstet Gynecol. 2010 Feb;22(1):72-8
pubmed: 19841585
Breast Cancer Res Treat. 2015 Apr;150(2):389-94
pubmed: 25716084
Cancer. 2001 Jul 15;92(2):440-5
pubmed: 11466700
N Engl J Med. 1997 May 15;336(20):1409-15
pubmed: 9145677
Nat Rev Cancer. 2007 Dec;7(12):937-48
pubmed: 18034184
Ann Oncol. 2015 Oct;26(10):2057-65
pubmed: 26153499
J Clin Oncol. 2016 May 1;34(13):1455-9
pubmed: 26786923
Science. 2017 Mar 17;355(6330):1152-1158
pubmed: 28302823
BMC Genomics. 2018 Apr 17;19(1):263
pubmed: 29665779
PLoS One. 2014 Sep 08;9(9):e106908
pubmed: 25198723
Breast Cancer Res Treat. 2012 Jul;134(2):889-94
pubmed: 22739995
J Clin Oncol. 2007 Apr 10;25(11):1329-33
pubmed: 17416853
Breast Cancer Res Treat. 2014 Apr;144(3):467-78
pubmed: 24604092
Cancer Epidemiol Biomarkers Prev. 2014 Dec;23(12):2748-56
pubmed: 25242052
Clin Oncol (R Coll Radiol). 2006 Apr;18(3):257-67
pubmed: 16605057
Infect Agent Cancer. 2017 Feb 14;12:13
pubmed: 28228841
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Fam Cancer. 2018 Oct;17(4):495-505
pubmed: 29445900
J Clin Oncol. 2016 Dec;34(34):4183-4185
pubmed: 27551127
J Natl Cancer Inst. 1999 Jun 2;91(11):943-9
pubmed: 10359546
JAMA. 2017 Jun 20;317(23):2402-2416
pubmed: 28632866
Cancer. 2015 Dec 1;121(23):4173-80
pubmed: 26287763
CA Cancer J Clin. 2007 Mar-Apr;57(2):75-89
pubmed: 17392385
JAMA. 2010 Sep 1;304(9):967-75
pubmed: 20810374
Cancer Epidemiol Biomarkers Prev. 2018 Jun;27(6):636-643
pubmed: 29678902
JAMA. 2005 Oct 19;294(15):1925-33
pubmed: 16234499
Int J Cancer. 2012 Sep 1;131(5):1114-23
pubmed: 22034289
Breast Care (Basel). 2015 Dec;10(6):364-70
pubmed: 26989354
JAMA. 2007 Dec 26;298(24):2869-76
pubmed: 18159056
Fam Cancer. 2018 Oct;17(4):471-483
pubmed: 28918466
Int J Radiat Oncol Biol Phys. 2002 Mar 1;52(3):606-13
pubmed: 11849780
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Hum Mutat. 2018 May;39(5):593-620
pubmed: 29446198
Breast Cancer Res Treat. 2014 Jun;145(3):707-14
pubmed: 24807107
Ethn Dis. 2017 Apr 20;27(2):169-178
pubmed: 28439188
J Natl Cancer Inst Monogr. 1999;(26):95-100
pubmed: 10854492
Ann Surg Oncol. 2013 Oct;20(10):3254-8
pubmed: 23975317
N Engl J Med. 2017 Aug 10;377(6):523-533
pubmed: 28578601
J Mol Diagn. 2019 Jul;21(4):646-657
pubmed: 31201024
Breast Cancer Res Treat. 2015 Jan;149(1):31-9
pubmed: 25428789
JAMA. 1998 Mar 25;279(12):915-21
pubmed: 9544765
J Clin Oncol. 2018 Oct 1;36(28):2820-2825
pubmed: 30130155
Concurr Comput. 2014 Sep 10;26(13):2266-2279
pubmed: 25342933
Cancer Res. 2006 Aug 15;66(16):8297-308
pubmed: 16912212
Breast J. 2013 Mar-Apr;19(2):189-92
pubmed: 23320992