Skip to main content
Erschienen in: Breast Cancer Research and Treatment 1/2019

19.07.2019 | Epidemiology

Assessing the effectiveness of the National Comprehensive Cancer Network genetic testing guidelines in identifying African American breast cancer patients with deleterious genetic mutations

verfasst von: Foluso O. Ademuyiwa, Patricia Salyer, Yinjiao Ma, Sherri Fisher, Graham Colditz, Katherine Weilbaecher, Laura J. Bierut

Erschienen in: Breast Cancer Research and Treatment | Ausgabe 1/2019

Einloggen, um Zugang zu erhalten

Abstract

Purpose

Approximately, 10% of breast cancers are hereditary. Identifying women at high risk for hereditary breast and ovarian cancer allows for early detection, prevention, and individualized disease management for those diagnosed with breast cancer. There is limited data about breast cancer genetic risks among African Americans as the majority of the large studies have been conducted in European Americans. We examined the distribution of deleterious genetic mutations in African American breast cancer patients, and evaluated the effectiveness of the National Comprehensive Cancer Network (NCCN) guidelines for identifying African American women at high risk for deleterious genetic mutations.

Methods

African American participants with breast cancer underwent an interview regarding health and family history, and a 30-gene saliva test. Medical records were accessed to determine whether participants had received prior genetic testing as part of usual care, results of previous testing, and cancer characteristics.

Results

Two hundred and fifty participants were enrolled between February 2016 and May 2018. Twenty (8.0%) had a deleterious mutation in one of the 30 genes; BRCA2 had the highest frequency (40.0%). 187 (74.8%) met eligibility for testing based on NCCN guidelines. Only 110 (58.8%) of participants eligible for genetic testing, according to guidelines, had received prior testing as part of routine care. Using the 30-gene test, we identified deleterious mutations in 17 of 187 (9.1%) of those who met NCCN criteria for testing, and three of 63 (4.8%) of those who did not meet criteria for testing nonetheless had a deleterious mutation associated with breast cancer.

Conclusions

Our results indicate that a large proportion of African American breast cancer patients who meet criteria for genetic testing do not receive it as part of routine care. Even in women who do not meet testing guidelines, nearly 5% have a known deleterious mutation associated with breast cancer.
Anhänge
Nur mit Berechtigung zugänglich
Literatur
1.
Zurück zum Zitat Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250(4988):1684–1689CrossRef Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250(4988):1684–1689CrossRef
2.
Zurück zum Zitat Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science (New York, NY) 266(5182):66–71CrossRef Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science (New York, NY) 266(5182):66–71CrossRef
3.
Zurück zum Zitat King MC, Wieand S, Hale K, Lee M, Walsh T, Owens K, Tait J, Ford L, Dunn BK, Costantino J, Wickerham L, Wolmark N, Fisher B, National Surgical Adjuvant B, Bowel P (2001) Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA 286(18):2251–2256CrossRef King MC, Wieand S, Hale K, Lee M, Walsh T, Owens K, Tait J, Ford L, Dunn BK, Costantino J, Wickerham L, Wolmark N, Fisher B, National Surgical Adjuvant B, Bowel P (2001) Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA 286(18):2251–2256CrossRef
6.
Zurück zum Zitat Eisen A, Lubinski J, Klijn J, Moller P, Lynch HT, Offit K, Weber B, Rebbeck T, Neuhausen SL, Ghadirian P, Foulkes WD, Gershoni-Baruch R, Friedman E, Rennert G, Wagner T, Isaacs C, Kim-Sing C, Ainsworth P, Sun P, Narod SA (2005) Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol 23(30):7491–7496. https://doi.org/10.1200/JCO.2004.00.7138 CrossRefPubMed Eisen A, Lubinski J, Klijn J, Moller P, Lynch HT, Offit K, Weber B, Rebbeck T, Neuhausen SL, Ghadirian P, Foulkes WD, Gershoni-Baruch R, Friedman E, Rennert G, Wagner T, Isaacs C, Kim-Sing C, Ainsworth P, Sun P, Narod SA (2005) Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol 23(30):7491–7496. https://​doi.​org/​10.​1200/​JCO.​2004.​00.​7138 CrossRefPubMed
9.
Zurück zum Zitat Kotsopoulos J, Huzarski T, Gronwald J, Singer CF, Moller P, Lynch HT, Armel S, Karlan B, Foulkes WD, Neuhausen SL, Senter L, Tung N, Weitzel JN, Eisen A, Metcalfe K, Eng C, Pal T, Evans G, Sun P, Lubinski J, Narod SA, Hereditary Breast Cancer Clinical Study G (2017) Bilateral oophorectomy and breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 109(1):89. https://doi.org/10.1093/jnci/djw177 CrossRef Kotsopoulos J, Huzarski T, Gronwald J, Singer CF, Moller P, Lynch HT, Armel S, Karlan B, Foulkes WD, Neuhausen SL, Senter L, Tung N, Weitzel JN, Eisen A, Metcalfe K, Eng C, Pal T, Evans G, Sun P, Lubinski J, Narod SA, Hereditary Breast Cancer Clinical Study G (2017) Bilateral oophorectomy and breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 109(1):89. https://​doi.​org/​10.​1093/​jnci/​djw177 CrossRef
10.
Zurück zum Zitat Expert Panel on Breast I, Mainiero MB, Moy L, Baron P, Didwania AD, diFlorio RM, Green ED, Heller SL, Holbrook AI, Lee SJ, Lewin AA, Lourenco AP, Nance KJ, Niell BL, Slanetz PJ, Stuckey AR, Vincoff NS, Weinstein SP, Yepes MM, Newell MS (2017) ACR appropriateness criteria((R)) breast cancer screening. J Am Coll Radiol 14(11S):S383–S390. https://doi.org/10.1016/j.jacr.2017.08.044 CrossRef Expert Panel on Breast I, Mainiero MB, Moy L, Baron P, Didwania AD, diFlorio RM, Green ED, Heller SL, Holbrook AI, Lee SJ, Lewin AA, Lourenco AP, Nance KJ, Niell BL, Slanetz PJ, Stuckey AR, Vincoff NS, Weinstein SP, Yepes MM, Newell MS (2017) ACR appropriateness criteria((R)) breast cancer screening. J Am Coll Radiol 14(11S):S383–S390. https://​doi.​org/​10.​1016/​j.​jacr.​2017.​08.​044 CrossRef
11.
Zurück zum Zitat Lehman CD, Blume JD, Weatherall P, Thickman D, Hylton N, Warner E, Pisano E, Schnitt SJ, Gatsonis C, Schnall M, DeAngelis GA, Stomper P, Rosen EL, O’Loughlin M, Harms S, Bluemke DA, International Breast MRICWG (2005) Screening women at high risk for breast cancer with mammography and magnetic resonance imaging. Cancer 103(9):1898–1905. https://doi.org/10.1002/cncr.20971 CrossRefPubMed Lehman CD, Blume JD, Weatherall P, Thickman D, Hylton N, Warner E, Pisano E, Schnitt SJ, Gatsonis C, Schnall M, DeAngelis GA, Stomper P, Rosen EL, O’Loughlin M, Harms S, Bluemke DA, International Breast MRICWG (2005) Screening women at high risk for breast cancer with mammography and magnetic resonance imaging. Cancer 103(9):1898–1905. https://​doi.​org/​10.​1002/​cncr.​20971 CrossRefPubMed
13.
Zurück zum Zitat Warner E, Plewes DB, Hill KA, Causer PA, Zubovits JT, Jong RA, Cutrara MR, DeBoer G, Yaffe MJ, Messner SJ, Meschino WS, Piron CA, Narod SA (2004) Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 292(11):1317–1325. https://doi.org/10.1001/jama.292.11.1317 CrossRefPubMed Warner E, Plewes DB, Hill KA, Causer PA, Zubovits JT, Jong RA, Cutrara MR, DeBoer G, Yaffe MJ, Messner SJ, Meschino WS, Piron CA, Narod SA (2004) Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 292(11):1317–1325. https://​doi.​org/​10.​1001/​jama.​292.​11.​1317 CrossRefPubMed
14.
Zurück zum Zitat Leach MO, Boggis CR, Dixon AK, Easton DF, Eeles RA, Evans DG, Gilbert FJ, Griebsch I, Hoff RJ, Kessar P, Lakhani SR, Moss SM, Nerurkar A, Padhani AR, Pointon LJ, Thompson D, Warren RM, group Ms (2005) Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet 365(9473):1769–1778. https://doi.org/10.1016/S0140-6736(05)66481-1 CrossRefPubMed Leach MO, Boggis CR, Dixon AK, Easton DF, Eeles RA, Evans DG, Gilbert FJ, Griebsch I, Hoff RJ, Kessar P, Lakhani SR, Moss SM, Nerurkar A, Padhani AR, Pointon LJ, Thompson D, Warren RM, group Ms (2005) Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet 365(9473):1769–1778. https://​doi.​org/​10.​1016/​S0140-6736(05)66481-1 CrossRefPubMed
15.
Zurück zum Zitat Litton JK, Rugo HS, Ettl J, Hurvitz SA, Goncalves A, Lee KH, Fehrenbacher L, Yerushalmi R, Mina LA, Martin M, Roche H, Im YH, Quek RGW, Markova D, Tudor IC, Hannah AL, Eiermann W, Blum JL (2018) Talazoparib in patients with advanced breast cancer and a germline BRCA mutation. N Engl J Med 379(8):753–763. https://doi.org/10.1056/NEJMoa1802905 CrossRefPubMed Litton JK, Rugo HS, Ettl J, Hurvitz SA, Goncalves A, Lee KH, Fehrenbacher L, Yerushalmi R, Mina LA, Martin M, Roche H, Im YH, Quek RGW, Markova D, Tudor IC, Hannah AL, Eiermann W, Blum JL (2018) Talazoparib in patients with advanced breast cancer and a germline BRCA mutation. N Engl J Med 379(8):753–763. https://​doi.​org/​10.​1056/​NEJMoa1802905 CrossRefPubMed
21.
26.
Zurück zum Zitat Churpek JE, Walsh T, Zheng Y, Moton Z, Thornton AM, Lee MK, Casadei S, Watts A, Neistadt B, Churpek MM, Huo D, Zvosec C, Liu F, Niu Q, Marquez R, Zhang J, Fackenthal J, King MC, Olopade OI (2015) Inherited predisposition to breast cancer among African American women. Breast Cancer Res Treat 149(1):31–39. https://doi.org/10.1007/s10549-014-3195-0 CrossRefPubMed Churpek JE, Walsh T, Zheng Y, Moton Z, Thornton AM, Lee MK, Casadei S, Watts A, Neistadt B, Churpek MM, Huo D, Zvosec C, Liu F, Niu Q, Marquez R, Zhang J, Fackenthal J, King MC, Olopade OI (2015) Inherited predisposition to breast cancer among African American women. Breast Cancer Res Treat 149(1):31–39. https://​doi.​org/​10.​1007/​s10549-014-3195-0 CrossRefPubMed
27.
Zurück zum Zitat States SCotU (2013) Association for molecular pathology et al. v. Myriad Genetics, inc., et al.. vol 12-398 States SCotU (2013) Association for molecular pathology et al. v. Myriad Genetics, inc., et al.. vol 12-398
28.
29.
Zurück zum Zitat Pal T, Bonner D, Kim J, Monteiro AN, Kessler L, Royer R, Narod SA, Vadaparampil ST (2013) Early onset breast cancer in a registry-based sample of African-american women: BRCA mutation prevalence, and other personal and system-level clinical characteristics. Breast J 19(2):189–192. https://doi.org/10.1111/tbj.12083 CrossRefPubMed Pal T, Bonner D, Kim J, Monteiro AN, Kessler L, Royer R, Narod SA, Vadaparampil ST (2013) Early onset breast cancer in a registry-based sample of African-american women: BRCA mutation prevalence, and other personal and system-level clinical characteristics. Breast J 19(2):189–192. https://​doi.​org/​10.​1111/​tbj.​12083 CrossRefPubMed
31.
Zurück zum Zitat Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72(5):1117–1130. https://doi.org/10.1086/375033 CrossRefPubMedPubMedCentral Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72(5):1117–1130. https://​doi.​org/​10.​1086/​375033 CrossRefPubMedPubMedCentral
33.
Zurück zum Zitat Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Zelada-Hedman M et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62(3):676–689. https://doi.org/10.1086/301749 CrossRefPubMedPubMedCentral Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Zelada-Hedman M et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62(3):676–689. https://​doi.​org/​10.​1086/​301749 CrossRefPubMedPubMedCentral
36.
Zurück zum Zitat Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, Baron P, Simmons R, Smith LA, Grady I, Kinney M, Coomer C, Barbosa K, Holmes DR, Brown E, Gold L, Clark P, Riley L, Lyons S, Ruiz A, Kahn S, MacDonald H, Curcio L, Hardwick MK, Yang S, Esplin ED, Nussbaum RL (2019) Underdiagnosis of hereditary breast cancer: are genetic testing guidelines a tool or an obstacle? J Clin Oncol 37(6):453–460. https://doi.org/10.1200/JCO.18.01631 CrossRefPubMed Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, Baron P, Simmons R, Smith LA, Grady I, Kinney M, Coomer C, Barbosa K, Holmes DR, Brown E, Gold L, Clark P, Riley L, Lyons S, Ruiz A, Kahn S, MacDonald H, Curcio L, Hardwick MK, Yang S, Esplin ED, Nussbaum RL (2019) Underdiagnosis of hereditary breast cancer: are genetic testing guidelines a tool or an obstacle? J Clin Oncol 37(6):453–460. https://​doi.​org/​10.​1200/​JCO.​18.​01631 CrossRefPubMed
38.
Zurück zum Zitat Nanda R, Schumm LP, Cummings S, Fackenthal JD, Sveen L, Ademuyiwa F, Cobleigh M, Esserman L, Lindor NM, Neuhausen SL, Olopade OI (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(15):1925–1933. https://doi.org/10.1001/jama.294.15.1925 CrossRefPubMed Nanda R, Schumm LP, Cummings S, Fackenthal JD, Sveen L, Ademuyiwa F, Cobleigh M, Esserman L, Lindor NM, Neuhausen SL, Olopade OI (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(15):1925–1933. https://​doi.​org/​10.​1001/​jama.​294.​15.​1925 CrossRefPubMed
40.
Zurück zum Zitat Newman B, Mu H, Butler LM, Millikan RC, Moorman PG, King MC (1998) Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. JAMA 279(12):915–921CrossRef Newman B, Mu H, Butler LM, Millikan RC, Moorman PG, King MC (1998) Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. JAMA 279(12):915–921CrossRef
41.
Zurück zum Zitat Haffty BG, Choi DH, Goyal S, Silber A, Ranieri K, Matloff E, Lee MH, Nissenblatt M, Toppmeyer D, Moran MS (2009) Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. Ann Oncol 20(10):1653–1659. https://doi.org/10.1093/annonc/mdp051 CrossRefPubMed Haffty BG, Choi DH, Goyal S, Silber A, Ranieri K, Matloff E, Lee MH, Nissenblatt M, Toppmeyer D, Moran MS (2009) Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. Ann Oncol 20(10):1653–1659. https://​doi.​org/​10.​1093/​annonc/​mdp051 CrossRefPubMed
Metadaten
Titel
Assessing the effectiveness of the National Comprehensive Cancer Network genetic testing guidelines in identifying African American breast cancer patients with deleterious genetic mutations
verfasst von
Foluso O. Ademuyiwa
Patricia Salyer
Yinjiao Ma
Sherri Fisher
Graham Colditz
Katherine Weilbaecher
Laura J. Bierut
Publikationsdatum
19.07.2019
Verlag
Springer US
Erschienen in
Breast Cancer Research and Treatment / Ausgabe 1/2019
Print ISSN: 0167-6806
Elektronische ISSN: 1573-7217
DOI
https://doi.org/10.1007/s10549-019-05359-w

Weitere Artikel der Ausgabe 1/2019

Breast Cancer Research and Treatment 1/2019 Zur Ausgabe

Update Onkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.