{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:37:56Z","timestamp":1786981076413,"version":"build-2736575974"},"reference-count":65,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T00:00:00Z","timestamp":1769817600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T00:00:00Z","timestamp":1769817600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"University of the Witwatersrand"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    This scoping review explored genetic variants associated with hereditary ovarian cancer in women of African ancestry. Around 20% of ovarian cancers are hereditary, with\n                    <jats:italic>BRCA1<\/jats:italic>\n                    and\n                    <jats:italic>BRCA2<\/jats:italic>\n                    variants accounting for 20\u201355% of these cases, while other implicated genes include\n                    <jats:italic>BRIP1, ATM, RAD51C, RAD51D<\/jats:italic>\n                    , and the Lynch syndrome genes. The genetic basis of ovarian cancer in women of African ancestry, however, remains poorly understood. Accurate diagnosis of hereditary cancer syndromes is crucial given their personal and familial implications, informing patient management, surveillance, and cascade testing for at-risk relatives. Eligible studies included women of African ancestry with confirmed primary ovarian, peritoneal, or fallopian tube cancer who underwent germline genetic testing for hereditary cancer syndromes. Studies based solely on somatic testing or genome-wide association approaches were excluded. A comprehensive search of PubMed, Scopus, Web of Science, Google Scholar, and ProQuest Dissertations and Theses Global was conducted. Two reviewers independently screened citations and extracted data using a standardized form, and results were summarised narratively and in tables according to JBI scoping review guidelines. Thirty studies were included, primarily involving African American and North African participants. Only four focused specifically on hereditary ovarian cancer; the remainder primarily examined breast cancer cohorts with some ovarian cancer cases. Across these studies, 75 pathogenic variants were identified in 110 families, with 92% in\n                    <jats:italic>BRCA1<\/jats:italic>\n                    or\n                    <jats:italic>BRCA2<\/jats:italic>\n                    . Research on hereditary ovarian cancer in women with African ancestry remains extremely limited, highlighting the urgent need for broader next-generation sequencing studies to inform clinical care.\n                  <\/jats:p>","DOI":"10.1007\/s10689-026-00530-x","type":"journal-article","created":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T05:17:05Z","timestamp":1769836625000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Hereditary ovarian cancer in women with African ancestry: a scoping review"],"prefix":"10.1007","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0600-155X","authenticated-orcid":false,"given":"Bianca","family":"Rossouw","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0942-8472","authenticated-orcid":false,"given":"Monica","family":"Araujo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7157-0807","authenticated-orcid":false,"given":"Amanda","family":"Krause","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1933-6308","authenticated-orcid":false,"given":"Fiona","family":"Baine-Savanhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,1,31]]},"reference":[{"key":"530_CR1","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1002\/ijgo.13878","volume":"155","author":"JS Berek","year":"2021","unstructured":"Berek JS, Renz M, Kehoe S et al (2021) Cancer of the ovary, fallopian tube, and peritoneum: 2021 update. Int J Gynaecol Obstet 155:61\u201385. https:\/\/doi.org\/10.1002\/ijgo.13878","journal-title":"Int J Gynaecol Obstet"},{"issue":"6","key":"530_CR2","first-page":"609","volume":"80","author":"MA Roett","year":"2009","unstructured":"Roett MA, Evans P (2009) Ovarian cancer: an overview. Am Fam Physician 80(6):609\u2013616","journal-title":"Am Fam Physician"},{"issue":"1","key":"530_CR3","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1080\/20742835.2009.11441130","volume":"1","author":"T Smith","year":"2009","unstructured":"Smith T, Guidozzi F (2009) Review: epithelial ovarian cancer in Southern Africa epithelial ovarian cancer in Southern Africa. S Afr J Gynaecol Oncol 1(1):23\u201327. https:\/\/doi.org\/10.1080\/20742835.2009.11441130","journal-title":"S Afr J Gynaecol Oncol"},{"key":"530_CR4","unstructured":"NICD (2020) Summary statistics of cancer diagnosed histologically in 2016, National Cancer Registry. https:\/\/www.nicd.ac.za\/wp-content\/uploads\/2020\/04\/NCR_2016_Report_updated_14April2020.pdf. Accessed 28 Feb 2025"},{"key":"530_CR5","unstructured":"World Ovarian Cancer Coalition (2022) Global ovarian cancer charter data briefing charter goal: global priority | February 2022. https:\/\/worldovariancancercoalition.org\/wp-content\/uploads\/2022\/02\/Global-Priority_Final.pdf Accessed 28 Feb 2025"},{"key":"530_CR6","doi-asserted-by":"publisher","DOI":"10.1200\/EDBK_160391","volume":"35","author":"F Lynce","year":"2019","unstructured":"Lynce F, Isaacs C (2019) How far do we go with genetic evaluation? Gene, panel, and tumor testing. J Clin Oncol 35:e72. https:\/\/doi.org\/10.1200\/EDBK_160391","journal-title":"J Clin Oncol"},{"key":"530_CR7","doi-asserted-by":"publisher","first-page":"284","DOI":"10.3322\/caac.21456","volume":"68","author":"LA Torre","year":"2018","unstructured":"Torre LA, Trabert B, DeSantis CE et al (2018) Ovarian cancer statistics, 2018. CA Cancer J Clin 68:284\u2013296. https:\/\/doi.org\/10.3322\/caac.21456","journal-title":"CA Cancer J Clin"},{"key":"530_CR8","unstructured":"Petrucelli N, Daly MB, Pal T (2023) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer. University of Washington, Seattle, Seattle (WA). http:\/\/europepmc.org\/abstract\/MED\/20301425"},{"key":"530_CR9","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/341723","volume":"1","author":"A Toss","year":"2015","unstructured":"Toss A, Tomasello C, Razzaboni E et al (2015) Hereditary ovarian cancer: not only BRCA 1 and 2 genes. Biomed Res Int 1:341723. https:\/\/doi.org\/10.1155\/2015\/341723","journal-title":"Biomed Res Int"},{"key":"530_CR10","doi-asserted-by":"publisher","first-page":"18032","DOI":"10.1073\/pnas.1115052108","volume":"108","author":"T Walsh","year":"2011","unstructured":"Walsh T, Casadei S, Lee MK et al (2011) Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A 108:18032\u201318037. https:\/\/doi.org\/10.1073\/pnas.1115052108","journal-title":"Proc Natl Acad Sci U S A"},{"key":"530_CR11","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1038\/gim.2014.40","volume":"16","author":"H Laduca","year":"2014","unstructured":"Laduca H, Stuenkel AJ, Dolinsky JS et al (2014) Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med 16:830\u2013837. https:\/\/doi.org\/10.1038\/gim.2014.40","journal-title":"Genet Med"},{"key":"530_CR12","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1007\/s10549-017-4181-0","volume":"163","author":"B Crawford","year":"2017","unstructured":"Crawford B, Adams SB, Sittler T et al (2017) Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. Breast Cancer Res Treat 163:383\u2013390. https:\/\/doi.org\/10.1007\/s10549-017-4181-0","journal-title":"Breast Cancer Res Treat"},{"key":"530_CR13","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/j.ejca.2016.03.009","volume":"61","author":"M Arts-De Jong","year":"2016","unstructured":"Arts-De Jong M, De Bock GH, Van Asperen CJ et al (2016) Germline BRCA1\/2 mutation testing is indicated in every patient with epithelial ovarian cancer: a systematic review. Eur J Cancer 61:137\u2013145. https:\/\/doi.org\/10.1016\/j.ejca.2016.03.009","journal-title":"Eur J Cancer"},{"key":"530_CR14","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1038\/nrclinonc.2016.191","volume":"14","author":"A George","year":"2017","unstructured":"George A, Kaye S, Banerjee S (2017) Delivering widespread BRCA testing and PARP inhibition to patients with ovarian cancer. Nat Rev Clin Oncol 14:284\u2013296. https:\/\/doi.org\/10.1038\/nrclinonc.2016.191","journal-title":"Nat Rev Clin Oncol"},{"key":"530_CR15","doi-asserted-by":"publisher","first-page":"1222","DOI":"10.1200\/JCO.19.02960","volume":"38","author":"PA Konstantinopoulos","year":"2020","unstructured":"Konstantinopoulos PA, Norquist B, Lacchetti C et al (2020) Germline and somatic tumor testing in epithelial ovarian cancer: ASCO guideline. J Clin Oncol 38:1222\u20131245. https:\/\/doi.org\/10.1200\/JCO.19.02960","journal-title":"J Clin Oncol"},{"issue":"2","key":"530_CR16","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1007\/s10549-024-07585-3","volume":"210","author":"TS Osler","year":"2025","unstructured":"Osler TS, Schoeman M, Pretorius WJS et al (2025) Application of genetic testing criteria for hereditary breast cancer in South Africa. Breast Cancer Res Treat 210(2):477\u2013486. https:\/\/doi.org\/10.1007\/s10549-024-07585-3","journal-title":"Breast Cancer Res Treat"},{"issue":"4","key":"530_CR17","doi-asserted-by":"publisher","first-page":"214","DOI":"10.7196\/SAMJ.2019.v109i4.13992","volume":"109","author":"CJ Scott","year":"2019","unstructured":"Scott CJ, Schoeman M, Urban MF (2019) Cancer genetics: an approach to suspected hereditary breast or colorectal cancer. S Afr Med J 109(4):214\u2013218. https:\/\/doi.org\/10.7196\/SAMJ.2019.v109i4.13992","journal-title":"S Afr Med J"},{"key":"530_CR18","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2020.606400","volume":"10","author":"SO Rotimi","year":"2021","unstructured":"Rotimi SO, Rotimi OA, Salhia B (2021) A review of cancer genetics and genomics studies in Africa. Front Oncol 10:606400. https:\/\/doi.org\/10.3389\/fonc.2020.606400","journal-title":"Front Oncol"},{"key":"530_CR19","doi-asserted-by":"publisher","unstructured":"Aromataris E, Lockwood C, Porritt K et al (2024) JBI manual for evidence synthesis. JBI. https:\/\/doi.org\/10.46658\/JBIMES-24-01","DOI":"10.46658\/JBIMES-24-01"},{"key":"530_CR20","doi-asserted-by":"publisher","first-page":"2119","DOI":"10.11124\/JBIES-20-00167","volume":"18","author":"MDJ Peters","year":"2020","unstructured":"Peters MDJ, Marnie C, Tricco AC et al (2020) Updated methodological guidance for the conduct of scoping reviews. JBI Evid Synth 18:2119\u20132126. https:\/\/doi.org\/10.11124\/JBIES-20-00167","journal-title":"JBI Evid Synth"},{"key":"530_CR21","doi-asserted-by":"publisher","first-page":"467","DOI":"10.7326\/M18-0850","volume":"169","author":"AC Tricco","year":"2018","unstructured":"Tricco AC, Lillie E, Zarin W et al (2018) PRISMA extension for scoping reviews (PRISMA-ScR): checklist and explanation. Ann Intern Med 169:467\u2013473. https:\/\/doi.org\/10.7326\/M18-0850","journal-title":"Ann Intern Med"},{"key":"530_CR22","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1097\/XEB.0000000000000152","volume":"17","author":"Z Munn","year":"2019","unstructured":"Munn Z, Aromataris E, Tufanaru C et al (2019) The development of software to support multiple systematic review types: the Joanna Briggs Institute System for the Unified Management, Assessment and Review of Information (JBI SUMARI). Int J Evid Based Healthc 17:36\u201343. https:\/\/doi.org\/10.1097\/XEB.0000000000000152","journal-title":"Int J Evid Based Healthc"},{"key":"530_CR23","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3233\/BD-130348","volume":"34","author":"F Cherbal","year":"2013","unstructured":"Cherbal F, Bakour R, Adane S, Boualga K (2013) BRCA1 and BRCA2 germline mutation spectrum in hereditary breast\/ovarian cancer families from Maghrebian countries. Breast Dis 34:1\u20138. https:\/\/doi.org\/10.3233\/BD-130348","journal-title":"Breast Dis"},{"key":"530_CR24","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-022-09181-4","volume":"22","author":"O ElBiad","year":"2022","unstructured":"ElBiad O, Laraqui A, El Boukhrissi F et al (2022) Prevalence of specific and recurrent\/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa. BMC Cancer 22:208. https:\/\/doi.org\/10.1186\/s12885-022-09181-4","journal-title":"BMC Cancer"},{"key":"530_CR25","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/194293","volume":"2015","author":"A Laraqui","year":"2015","unstructured":"Laraqui A, Uhrhammer N, EL Rhaffouli H et al (2015) BRCA genetic screening in middle eastern and north african: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in north african. Dis Markers 2015:194293. https:\/\/doi.org\/10.1155\/2015\/194293","journal-title":"Dis Markers"},{"key":"530_CR26","doi-asserted-by":"publisher","DOI":"10.1016\/j.genrep.2019.100380","volume":"15","author":"R Samtani","year":"2019","unstructured":"Samtani R, Saksena D (2019) BRCA gene mutations: a population based review. Gene Rep 15:100380. https:\/\/doi.org\/10.1016\/j.genrep.2019.100380","journal-title":"Gene Rep"},{"key":"530_CR27","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1001\/jamaoncol.2015.5495","volume":"2","author":"BM Norquist","year":"2016","unstructured":"Norquist BM, Harrell MI, Brady MF et al (2016) Inherited mutations in women with ovarian carcinoma. JAMA Oncol 2:482\u2013490. https:\/\/doi.org\/10.1001\/jamaoncol.2015.5495","journal-title":"JAMA Oncol"},{"issue":"Suppl 8","key":"530_CR28","doi-asserted-by":"publisher","first-page":"viii63","DOI":"10.1093\/annonc\/mdt315","volume":"24","author":"T Safra","year":"2013","unstructured":"Safra T, Lai WC, Borgato L et al (2013) BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups. Ann Oncol 24(Suppl 8):viii63\u2013viii68. https:\/\/doi.org\/10.1093\/annonc\/mdt315","journal-title":"Ann Oncol"},{"key":"530_CR29","doi-asserted-by":"publisher","DOI":"10.1200\/PO.23.00137","volume":"7","author":"TY Sia","year":"2023","unstructured":"Sia TY, Maio A, Kemel YM et al (2023) Germline pathogenic variants and genetic counseling by ancestry in patients with epithelial ovarian cancer. JCO Precis Oncol 7:e2300137. https:\/\/doi.org\/10.1200\/PO.23.00137","journal-title":"JCO Precis Oncol"},{"key":"530_CR30","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1046\/j.1525-1438.2003.13333.x","volume":"13","author":"RJ Pegoraro","year":"2003","unstructured":"Pegoraro RJ, Moodley M, Rom L et al (2003) P53 codon 72 polymorphism and BRCA 1 and 2 mutations in ovarian epithelial malignancies in black South Africans. Int J Gynecol Cancer 13:444\u2013449. https:\/\/doi.org\/10.1046\/j.1525-1438.2003.13333.x","journal-title":"Int J Gynecol Cancer"},{"key":"530_CR31","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-020-07250-0","volume":"20","author":"FZ El Ansari","year":"2020","unstructured":"El Ansari FZ, Jouali F, Marchoudi N, Bennani MM et al (2020) Screening of BRCA1\/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC). BMC Cancer 20:747. https:\/\/doi.org\/10.1186\/s12885-020-07250-0","journal-title":"BMC Cancer"},{"key":"530_CR32","doi-asserted-by":"publisher","first-page":"389","DOI":"10.3892\/ol.2011.248","volume":"2","author":"FZ Laarabi","year":"2011","unstructured":"Laarabi FZ, Jaouad IC, Ouldim K et al (2011) Genetic testing and first presymptomatic diagnosis in Moroccan families at\u00a0high risk for breast\/ovarian cancer. Oncol Lett 2:389\u2013393. https:\/\/doi.org\/10.3892\/ol.2011.248","journal-title":"Oncol Lett"},{"issue":"8","key":"530_CR33","doi-asserted-by":"publisher","DOI":"10.3390\/genes13081296","volume":"13","author":"D BenAyed-Guerfali","year":"2022","unstructured":"BenAyed-Guerfali D, Kifagi C, BenKridis-Rejeb W et al (2022) The identification by exome sequencing of candidate genes in BRCA-negative Tunisian patients at a high risk of hereditary breast\/ovarian cancer. Genes 13(8):1296. https:\/\/doi.org\/10.3390\/genes13081296","journal-title":"Genes"},{"key":"530_CR34","doi-asserted-by":"publisher","first-page":"377","DOI":"10.3233\/DMA-2010-0718","volume":"28","author":"F Cherbal","year":"2010","unstructured":"Cherbal F, Bakour R, Adane S et al (2010) BRCA1 and BRCA2 germline mutations screening in Algerian breast\/ovarian cancer families. Dis Markers 28:377\u2013384. https:\/\/doi.org\/10.3233\/DMA-2010-0718","journal-title":"Dis Markers"},{"key":"530_CR35","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1007\/s10549-022-06622-3","volume":"194","author":"SC Elalaoui","year":"2022","unstructured":"Elalaoui SC, Laarabi FZ, Afif L, Lyahyai J et al (2022) Mutational spectrum of BRCA1\/2 genes in Moroccan patients with hereditary breast and\/or ovarian cancer, and review of BRCA mutations in the MENA region. Breast Cancer Res Treat 194:187\u2013198. https:\/\/doi.org\/10.1007\/s10549-022-06622-3","journal-title":"Breast Cancer Res Treat"},{"issue":"1","key":"530_CR36","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-023-10822-5","volume":"23","author":"R Melki","year":"2023","unstructured":"Melki R, Melloul M, Aissaoui S et al (2023) <article-title update=\"added\">Increased prevalence of the founder BRCA1 c.5309G>T and recurrent BRCA2 c.1310_1313delAAGA mutations in breast cancer families from northerstern region of Morocco: evidence of geographical specificity and high relevance for genetic counseling. BMC Cancer 23(1):339. https:\/\/doi.org\/10.1186\/s12885-023-10822-5","journal-title":"BMC Cancer"},{"key":"530_CR37","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1007\/s10549-015-3527-8","volume":"153","author":"F Lynce","year":"2015","unstructured":"Lynce F, Smith KL, Stein J et al (2015) Deleterious BRCA1\/2 mutations in an urban population of Black women. Breast Cancer Res Treat 153:201\u2013209. https:\/\/doi.org\/10.1007\/s10549-015-3527-8","journal-title":"Breast Cancer Res Treat"},{"key":"530_CR38","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1086\/302511","volume":"65","author":"HC Mefford","year":"1999","unstructured":"Mefford HC, Baumbach L, Panguluri RCK et al (1999) Evidence for a BRCA1 founder mutation in families of west African ancestry. Am J Hum Genet 65:575\u2013578. https:\/\/doi.org\/10.1086\/302511","journal-title":"Am J Hum Genet"},{"key":"530_CR39","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1007\/s004399900085","volume":"105","author":"RC Panguluri","year":"1999","unstructured":"Panguluri RC, Brody LC, Modali R et al (1999) BRCA1 mutations in African Americans. Hum Genet 105:28\u201331. https:\/\/doi.org\/10.1007\/s004399900085","journal-title":"Hum Genet"},{"key":"530_CR40","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1111\/cge.12747","volume":"90","author":"F Quiles","year":"2016","unstructured":"Quiles F, Teul\u00e9 \u00c0, Martinussen Tandstad N et al (2016) Identification of a founder BRCA1 mutation in the Moroccan population. Clin Genet 90:361\u2013365. https:\/\/doi.org\/10.1111\/cge.12747","journal-title":"Clin Genet"},{"key":"530_CR41","doi-asserted-by":"publisher","DOI":"10.1186\/s12967-021-02772-y","volume":"19","author":"D Ben Ayed-Guerfali","year":"2021","unstructured":"Ben Ayed-Guerfali D, Ben Kridis-Rejab W, Ammous-Boukhris N et al (2021) Novel and recurrent BRCA1\/BRCA2 germline mutations in patients with breast\/ovarian cancer: a series from the south of Tunisia. J Transl Med 19:108. https:\/\/doi.org\/10.1186\/s12967-021-02772-y","journal-title":"J Transl Med"},{"key":"530_CR42","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1001\/jama.294.15.1925","volume":"60","author":"Q Gao","year":"1997","unstructured":"Gao Q, Neuhausen S, Cummings S et al (1997) Recurrent germ-line BRCA1 mutations in extended African American families with early-onset breast cancer. Am J Hum Genet 60:1233\u20131236. https:\/\/doi.org\/10.1001\/jama.294.15.1925","journal-title":"Am J Hum Genet"},{"key":"530_CR43","doi-asserted-by":"publisher","first-page":"1925","DOI":"10.1001\/jama.294.15.1925","volume":"294","author":"R Nanda","year":"2005","unstructured":"Nanda R, Schumm LP, Cummings S et al (2005) Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. JAMA 294:1925\u20131933. https:\/\/doi.org\/10.1001\/jama.294.15.1925","journal-title":"JAMA"},{"issue":"9","key":"530_CR44","doi-asserted-by":"publisher","DOI":"10.3390\/genes15091173","volume":"15","author":"MCM Gomes","year":"2024","unstructured":"Gomes MCM, Gomes BJ, Christianson AL et al (2024) A capacity audit of medical geneticists and genetic counsellors in South Africa, 2024: a national crisis. Genes (Basel) 15(9):1173. https:\/\/doi.org\/10.3390\/genes15091173","journal-title":"Genes (Basel)"},{"key":"530_CR45","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002397","volume":"8","author":"BM Henn","year":"2012","unstructured":"Henn BM, Botigu\u00e9 LR, Gravel S et al (2012) Genomic ancestry of North Africans supports back-to-Africa migrations. PLoS Genet 8:e1002397. https:\/\/doi.org\/10.1371\/journal.pgen.1002397","journal-title":"PLoS Genet"},{"key":"530_CR46","doi-asserted-by":"publisher","DOI":"10.1002\/9780470015902a0027485","author":"LR Arauna","year":"2017","unstructured":"Arauna LR, Comas D (2017) Genetic heterogeneity between Berbers and Arabs. Encyclopedia Life Sci. https:\/\/doi.org\/10.1002\/9780470015902a0027485","journal-title":"Encyclopedia Life Sci"},{"key":"530_CR47","unstructured":"Eltis D, Richardson D (2019) Atlas of the transatlantic slave trade. In: Atlas of the transatlantic slave trade. Yale University Press"},{"key":"530_CR48","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/j.ajhg.2014.11.010","volume":"96","author":"K Bryc","year":"2015","unstructured":"Bryc K, Durand EY, Macpherson JM et al (2015) The genetic ancestry of African Americans, Latinos, and European Americans across the United States. Am J Hum Genet 96:37\u201353. https:\/\/doi.org\/10.1016\/j.ajhg.2014.11.010","journal-title":"Am J Hum Genet"},{"key":"530_CR49","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1016\/j.ygyno.2018.09.030","volume":"151","author":"NJ Carter","year":"2018","unstructured":"Carter NJ, Marshall ML, Susswein LR et al (2018) Germline pathogenic variants identified in women with ovarian tumors. Gynecol Oncol 151:481\u2013488. https:\/\/doi.org\/10.1016\/j.ygyno.2018.09.030","journal-title":"Gynecol Oncol"},{"key":"530_CR50","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1016\/j.ygyno.2015.01.537","volume":"137","author":"LE Minion","year":"2015","unstructured":"Minion LE, Dolinsky JS, Chase DM et al (2015) Hereditary predisposition to ovarian cancer, looking beyond BRCA1\/BRCA2. Gynecol Oncol 137:86\u201392. https:\/\/doi.org\/10.1016\/j.ygyno.2015.01.537","journal-title":"Gynecol Oncol"},{"key":"530_CR51","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1053\/j.seminoncol.2023.12.001","volume":"50","author":"J Shain","year":"2023","unstructured":"Shain J, Michel A, May MS et al (2023) Cancer genetic mutation prevalence in sub-Saharan Africa: a review of existing data. Semin Oncol 50:123\u2013130. https:\/\/doi.org\/10.1053\/j.seminoncol.2023.12.001","journal-title":"Semin Oncol"},{"key":"530_CR52","doi-asserted-by":"publisher","first-page":"1874","DOI":"10.1038\/s41591-024-03033-3","volume":"7","author":"SS Lim","year":"2024","unstructured":"Lim SS, Semnani-Azad Z, Morieru ML et al (2024) Reporting guidelines for precision medicine research of clinical relevance: the BePRECISE checklist. Nat Med 7:1874\u20131881. https:\/\/doi.org\/10.1038\/s41591-024-03033-3","journal-title":"Nat Med"},{"key":"530_CR53","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1007\/s12253-019-00586-4","volume":"26","author":"C Mehemmai","year":"2019","unstructured":"Mehemmai C, Cherbal F, Hamdi Y et al (2019) BRCA1 and BRCA2 germline mutation analysis in hereditary breast\/ovarian cancer families from the Aures region (Eastern Algeria): first report. Pathol Oncol Res 26:715\u2013726. https:\/\/doi.org\/10.1007\/s12253-019-00586-4","journal-title":"Pathol Oncol Res"},{"key":"530_CR54","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1016\/j.ygyno.2012.03.007","volume":"125","author":"A Tazzite","year":"2012","unstructured":"Tazzite A, Jouhadi H, Nadifi S et al (2012) BRCA1 and BRCA2 germline mutations in Moroccan breast\/ovarian cancer families: novel mutations and unclassified variants. Gynecol Oncol 125:687\u2013692. https:\/\/doi.org\/10.1016\/j.ygyno.2012.03.007","journal-title":"Gynecol Oncol"},{"key":"530_CR55","doi-asserted-by":"publisher","first-page":"11","DOI":"10.3233\/cbm-2008-4102","volume":"4","author":"W Troudi","year":"2008","unstructured":"Troudi W, Uhrhammer N, Romdhane KB et al (2008) Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer. Cancer Biomark 4:11\u201318. https:\/\/doi.org\/10.3233\/cbm-2008-4102","journal-title":"Cancer Biomark"},{"key":"530_CR56","doi-asserted-by":"publisher","first-page":"E36","DOI":"10.1684\/bdc.2014.2049","volume":"101","author":"A Fourati","year":"2014","unstructured":"Fourati A, Louchez M-M, Joelle F, Gamoudi A et al (2014) Screening for common mutations in BRCA1 and BRCA2 genes: interest in genetic testing of Tunisian families with breast and\/or ovarian cancer. Bull Cancer 101:E36-40. https:\/\/doi.org\/10.1684\/bdc.2014.2049","journal-title":"Bull Cancer"},{"key":"530_CR57","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1111\/cge.12337","volume":"87","author":"A Riahi","year":"2014","unstructured":"Riahi A, Kharrat M, Ghourabi ME et al (2014) Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset breast\/ovarian cancer from Tunisia. Clin Genet 87:155\u2013160. https:\/\/doi.org\/10.1111\/cge.12337","journal-title":"Clin Genet"},{"key":"530_CR58","doi-asserted-by":"publisher","first-page":"915","DOI":"10.1007\/s10038-007-0195-5","volume":"52","author":"W Troudi","year":"2007","unstructured":"Troudi W, Uhrhammer N, Sibille C et al (2007) Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia. J Hum Genet 52:915\u2013920. https:\/\/doi.org\/10.1007\/s10038-007-0195-5","journal-title":"J Hum Genet"},{"key":"530_CR59","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-020-06917-y","volume":"20","author":"NC van der Merwe","year":"2020","unstructured":"van der Merwe NC, Oosthuizen J, Theron M et al (2020) The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer. BMC Cancer 20:391. https:\/\/doi.org\/10.1186\/s12885-020-06917-y","journal-title":"BMC Cancer"},{"key":"530_CR60","unstructured":"Broome CW (2002) BRCA1 and BRCA2 mutations in African Americans. https:\/\/apps.dtic.mil\/sti\/tr\/pdf\/ADB281664.pdf"},{"key":"530_CR61","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1007\/s10549-014-3195-0","volume":"149","author":"JE Churpek","year":"2014","unstructured":"Churpek JE, Walsh T, Zheng Y et al (2014) Inherited predisposition to breast cancer among African American women. Breast Cancer Res Treat 149:31\u201339. https:\/\/doi.org\/10.1007\/s10549-014-3195-0","journal-title":"Breast Cancer Res Treat"},{"key":"530_CR62","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1002\/(SICI)1098-1004(1999)14:3<216::AID-HUMU4>3.0.CO;2-X","volume":"14","author":"J Hung","year":"1999","unstructured":"Hung J, Mims B, Lozano G et al (1999) TP53 mutation and haplotype analysis of two large African American families. Hum Mutat 14:216\u2013221. https:\/\/doi.org\/10.1002\/(SICI)1098-1004(1999)14:3%3c216::AID-HUMU4%3e3.0.CO;2-X","journal-title":"Hum Mutat"},{"key":"530_CR63","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1007\/s00439-003-0999-0","volume":"113","author":"Y Kanaan","year":"2003","unstructured":"Kanaan Y, Kpenu E, Utley K et al (2003) Inherited BRCA2 mutations in African Americans with breast and\/or ovarian cancer: a study of familial and early onset cases. Hum Genet 113:452\u2013460. https:\/\/doi.org\/10.1007\/s00439-003-0999-0","journal-title":"Hum Genet"},{"key":"530_CR64","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1200\/JCO.18.01854","volume":"37","author":"AW Kurian","year":"2019","unstructured":"Kurian AW, Ward KC, Howlader N et al (2019) Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients. J Clin Oncol 37:1305\u20131315. https:\/\/doi.org\/10.1200\/JCO.18.01854","journal-title":"J Clin Oncol"},{"key":"530_CR65","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1089\/gte.2007.0108","volume":"12","author":"T Pal","year":"2008","unstructured":"Pal T, Vadaparampil S, Betts J et al (2008) BRCA1\/2 in high-risk African American women with breast cancer: providing genetic testing through various recruitment strategies. Genet Test 12:401\u2013407. https:\/\/doi.org\/10.1089\/gte.2007.0108","journal-title":"Genet Test"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-026-00530-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10689-026-00530-x","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-026-00530-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T17:26:09Z","timestamp":1781630769000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10689-026-00530-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,31]]},"references-count":65,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,3]]}},"alternative-id":["530"],"URL":"https:\/\/doi.org\/10.1007\/s10689-026-00530-x","relation":{},"ISSN":["1573-7292"],"issn-type":[{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,31]]},"assertion":[{"value":"6 October 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 January 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 January 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no relevant financial or non-financial interests to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}],"article-number":"16"}}