Skip to main content
Erschienen in: Current Breast Cancer Reports 2/2020

20.05.2020 | Breast Cancer Genetics (BK Arun, Section Editor)

Panel Testing for Hereditary Breast Cancer: More or Less?

verfasst von: Kara K. Landry, Marie E. Wood

Erschienen in: Current Breast Cancer Reports | Ausgabe 2/2020

Einloggen, um Zugang zu erhalten

Abstract

Purpose of Review

Panel testing is increasingly being offered to patients. Currently, women may be offered a panel of up to 80 genes. Oncologists are tasked with understanding the indications for this testing as well as the potential implications. In this review, we outline which patients should undergo genetic testing for hereditary breast cancer, when this testing should be performed, and which genes should be tested for.

Recent Findings

Our understanding of hereditary breast cancer has drastically changed with the advent of next generation sequencing (NGS), and many additional genes have been associated with increased breast cancer risk. Some have advocated for genetic testing of all women with breast cancer.

Summary

Routine genetic testing for all women with breast cancer is not warranted. Women with a phenotype associated with hereditary breast cancer, with a family history of cancer, or for whom a positive genetic test would change management should be offered genetic testing.
Literatur
1.
2.
Zurück zum Zitat Supreme Court of the United States syllabus. Association for Molecular Pathology et al. v. Myriad Genetics, Inc., et al. certiorari to the United States Court of Appeals for the Federal Circuit. Rev Derecho Genoma Hum. 2013 (38):217–9. Supreme Court of the United States syllabus. Association for Molecular Pathology et al. v. Myriad Genetics, Inc., et al. certiorari to the United States Court of Appeals for the Federal Circuit. Rev Derecho Genoma Hum. 2013 (38):217–9.
3.
Zurück zum Zitat Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, et al. Garber JE Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer. J Clin Oncol. 2016;34(13):1460–8.PubMedPubMedCentralCrossRef Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, et al. Garber JE Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer. J Clin Oncol. 2016;34(13):1460–8.PubMedPubMedCentralCrossRef
4.
Zurück zum Zitat • Kurian AW, Ward KC, Howlader N, Deapen D, Hamilton AS, Mariotto A, et al. Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients. J Clin Oncol. 2019;37(15):1305–15 An important paper which identified important gaps and disparities in testing for hereditary breast and ovarian cancer. PubMedPubMedCentralCrossRef • Kurian AW, Ward KC, Howlader N, Deapen D, Hamilton AS, Mariotto A, et al. Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients. J Clin Oncol. 2019;37(15):1305–15 An important paper which identified important gaps and disparities in testing for hereditary breast and ovarian cancer. PubMedPubMedCentralCrossRef
5.
Zurück zum Zitat • Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, et al. Underdiagnosis of Hereditary breast cancer: are genetic testing guidelines a tool or an obstacle? J Clin Oncol. 2019;37(6):453–60 An important paper which demonstrates that guidelines do identifiy women with BRCA mutations, but expanding testing guidelines may reach more mutation carriers. PubMedCrossRef • Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, et al. Underdiagnosis of Hereditary breast cancer: are genetic testing guidelines a tool or an obstacle? J Clin Oncol. 2019;37(6):453–60 An important paper which demonstrates that guidelines do identifiy women with BRCA mutations, but expanding testing guidelines may reach more mutation carriers. PubMedCrossRef
6.
Zurück zum Zitat Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, et al. Associations between cancer predisposition testing panel genes and breast cancer. JAMA Oncol. 2017;3(9):1190–6.PubMedPubMedCentralCrossRef Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, et al. Associations between cancer predisposition testing panel genes and breast cancer. JAMA Oncol. 2017;3(9):1190–6.PubMedPubMedCentralCrossRef
7.
Zurück zum Zitat Suszynska M, Klonowska K, Jasinska AJ, Kozlowski P. Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes-providing evidence of cancer predisposition genes. Gynecol Oncol. 2019;153(2):452–62.PubMedCrossRef Suszynska M, Klonowska K, Jasinska AJ, Kozlowski P. Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes-providing evidence of cancer predisposition genes. Gynecol Oncol. 2019;153(2):452–62.PubMedCrossRef
8.
Zurück zum Zitat • Buys SS, Sandbach JF, Gammon A, Patel G, Kidd J, Brown KL, et al. A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes. Cancer. 2017;123(10):1721–30 An important paper which demonstrates featues most consistent with BRCA related cancers. PubMedCrossRef • Buys SS, Sandbach JF, Gammon A, Patel G, Kidd J, Brown KL, et al. A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes. Cancer. 2017;123(10):1721–30 An important paper which demonstrates featues most consistent with BRCA related cancers. PubMedCrossRef
9.
Zurück zum Zitat O'Leary E, Iacoboni D, Holle J, Michalski ST, Esplin ED, Yang S. Ouyang K Expanded gene panel use for women with breast cancer: identification and intervention beyond breast cancer risk. Ann Surg Oncol. 2017;24(10):3060–6.PubMedPubMedCentralCrossRef O'Leary E, Iacoboni D, Holle J, Michalski ST, Esplin ED, Yang S. Ouyang K Expanded gene panel use for women with breast cancer: identification and intervention beyond breast cancer risk. Ann Surg Oncol. 2017;24(10):3060–6.PubMedPubMedCentralCrossRef
10.
Zurück zum Zitat •• Force USPST, Owens DK, Davidson KW, Krist AH, Barry MJ, Cabana M, et al. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force recommendation statement. JAMA. 2019;322(7):652–65 Very important and up to date guidelines for genetic testing. CrossRef •• Force USPST, Owens DK, Davidson KW, Krist AH, Barry MJ, Cabana M, et al. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force recommendation statement. JAMA. 2019;322(7):652–65 Very important and up to date guidelines for genetic testing. CrossRef
11.
Zurück zum Zitat Lu KH, Wood ME, Daniels M, Burke C, Ford J, Kauff ND, et al. American Society of Clinical Oncology Expert statement: collection and use of a cancer family history for oncology providers. J Clin Oncol. 2014;32(8):833–40.PubMedPubMedCentralCrossRef Lu KH, Wood ME, Daniels M, Burke C, Ford J, Kauff ND, et al. American Society of Clinical Oncology Expert statement: collection and use of a cancer family history for oncology providers. J Clin Oncol. 2014;32(8):833–40.PubMedPubMedCentralCrossRef
12.
Zurück zum Zitat Lancaster JM, Powell CB, Chen LM, Richardson DL, Committee SGOCP. Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol. 2015;136(1):3–7.PubMedCrossRef Lancaster JM, Powell CB, Chen LM, Richardson DL, Committee SGOCP. Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol. 2015;136(1):3–7.PubMedCrossRef
13.
Zurück zum Zitat Daly MB, Pilarski R, Berry M, Buys SS, Farmer M, Friedman S, et al. NCCN guidelines insights: genetic/familial high-risk assessment: breast and ovarian, version 2.2017. J Natl Compr Cancer Netw. 2017;15(1):9–20.CrossRef Daly MB, Pilarski R, Berry M, Buys SS, Farmer M, Friedman S, et al. NCCN guidelines insights: genetic/familial high-risk assessment: breast and ovarian, version 2.2017. J Natl Compr Cancer Netw. 2017;15(1):9–20.CrossRef
14.
Zurück zum Zitat Robson ME, Bradbury AR, Arun B, Domchek SM, Ford JM, Hampel HL, et al. Lindor NM American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol. 2015;33(31):3660–7.PubMedCrossRef Robson ME, Bradbury AR, Arun B, Domchek SM, Ford JM, Hampel HL, et al. Lindor NM American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol. 2015;33(31):3660–7.PubMedCrossRef
15.
Zurück zum Zitat Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL, Guideline Development Group ACoMG, et al. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med. 2015;17(1):70–87.PubMedCrossRef Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL, Guideline Development Group ACoMG, et al. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med. 2015;17(1):70–87.PubMedCrossRef
16.
Zurück zum Zitat Espenschied CR, LaDuca H, Li S, McFarland R, Gau CL, Hampel H. Multigene panel testing provides a new perspective on Lynch syndrome. J Clin Oncol. 2017;35(22):2568–75.PubMedPubMedCentralCrossRef Espenschied CR, LaDuca H, Li S, McFarland R, Gau CL, Hampel H. Multigene panel testing provides a new perspective on Lynch syndrome. J Clin Oncol. 2017;35(22):2568–75.PubMedPubMedCentralCrossRef
17.
Zurück zum Zitat Genetic/Familial High-Risk Assessment (2019): Breast O, and Pancreatic. In: NCCN Clin, Pract. Guidel. Oncol. https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf Accessed 12.6.2019. Genetic/Familial High-Risk Assessment (2019): Breast O, and Pancreatic. In: NCCN Clin, Pract. Guidel. Oncol. https://​www.​nccn.​org/​professionals/​physician_​gls/​pdf/​genetics_​bop.​pdf Accessed 12.6.2019.
18.
Zurück zum Zitat Cropper C, Woodson A, Arun B, Barcenas C, Litton J, Noblin S, et al. Daniels M Evaluating the NCCN clinical criteria for recommending BRCA1 and BRCA2 genetic testing in patients with breast cancer. J Natl Compr Cancer Netw. 2017;15(6):797–803.CrossRef Cropper C, Woodson A, Arun B, Barcenas C, Litton J, Noblin S, et al. Daniels M Evaluating the NCCN clinical criteria for recommending BRCA1 and BRCA2 genetic testing in patients with breast cancer. J Natl Compr Cancer Netw. 2017;15(6):797–803.CrossRef
19.
Zurück zum Zitat Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, et al. Levy-Lahad E Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci U S A. 2014;111(39):14205–10.PubMedPubMedCentralCrossRef Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, et al. Levy-Lahad E Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci U S A. 2014;111(39):14205–10.PubMedPubMedCentralCrossRef
20.
21.
Zurück zum Zitat Swift M, Morrell D, Massey RB, Chase CL. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med. 1991;325(26):1831–6.PubMedCrossRef Swift M, Morrell D, Massey RB, Chase CL. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med. 1991;325(26):1831–6.PubMedCrossRef
22.
Zurück zum Zitat Weischer M, Bojesen SE, Ellervik C, Tybjaerg-Hansen A, Nordestgaard BG. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol. 2008;26(4):542–8.PubMedCrossRef Weischer M, Bojesen SE, Ellervik C, Tybjaerg-Hansen A, Nordestgaard BG. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol. 2008;26(4):542–8.PubMedCrossRef
23.
Zurück zum Zitat Consortium CBCC-C. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet. 2004;74(6):1175–82.CrossRef Consortium CBCC-C. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet. 2004;74(6):1175–82.CrossRef
24.
Zurück zum Zitat Jerzak KJ, Mancuso T, Eisen A. Ataxia-telangiectasia gene (ATM) mutation heterozygosity in breast cancer: a narrative review. Curr Oncol. 2018;25(2):e176–e80.PubMedPubMedCentralCrossRef Jerzak KJ, Mancuso T, Eisen A. Ataxia-telangiectasia gene (ATM) mutation heterozygosity in breast cancer: a narrative review. Curr Oncol. 2018;25(2):e176–e80.PubMedPubMedCentralCrossRef
25.
Zurück zum Zitat Southey MC, Goldgar DE, Winqvist R, Pylkas K, Couch F, Tischkowitz M, et al. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. J Med Genet. 2016;53(12):800–11.PubMedCrossRef Southey MC, Goldgar DE, Winqvist R, Pylkas K, Couch F, Tischkowitz M, et al. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. J Med Genet. 2016;53(12):800–11.PubMedCrossRef
26.
Zurück zum Zitat Schmidt MK, Hogervorst F, van Hien R, Cornelissen S, Broeks A, Adank MA, et al. Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC carriers. J Clin Oncol. 2016;34(23):2750–60.PubMedPubMedCentralCrossRef Schmidt MK, Hogervorst F, van Hien R, Cornelissen S, Broeks A, Adank MA, et al. Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC carriers. J Clin Oncol. 2016;34(23):2750–60.PubMedPubMedCentralCrossRef
27.
Zurück zum Zitat Schutte M, Seal S, Barfoot R, Meijers-Heijboer H, Wasielewski M, Evans DG, et al. Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. Am J Hum Genet. 2003;72(4):1023–8.PubMedPubMedCentralCrossRef Schutte M, Seal S, Barfoot R, Meijers-Heijboer H, Wasielewski M, Evans DG, et al. Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. Am J Hum Genet. 2003;72(4):1023–8.PubMedPubMedCentralCrossRef
28.
Zurück zum Zitat Win AK, Dowty JG, Cleary SP, Kim H, Buchanan DD, Young JP, et al. Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology. 2014;146(5):1208–11 e1 5.PubMedCrossRef Win AK, Dowty JG, Cleary SP, Kim H, Buchanan DD, Young JP, et al. Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology. 2014;146(5):1208–11 e1 5.PubMedCrossRef
29.
Zurück zum Zitat Jenkins MA, Croitoru ME, Monga N, Cleary SP, Cotterchio M, Hopper JL, et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomark Prev. 2006;15(2):312–4.CrossRef Jenkins MA, Croitoru ME, Monga N, Cleary SP, Cotterchio M, Hopper JL, et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomark Prev. 2006;15(2):312–4.CrossRef
30.
Zurück zum Zitat Manahan ER, Kuerer HM, Sebastian M, Hughes KS, Boughey JC, Euhus DM, et al. Taylor WA Consensus guidelines on genetictesting for hereditary breast cancer from the American Society of Breast Surgeons. Ann Surg Oncol. 2019;26(10):3025–31.PubMedPubMedCentralCrossRef Manahan ER, Kuerer HM, Sebastian M, Hughes KS, Boughey JC, Euhus DM, et al. Taylor WA Consensus guidelines on genetictesting for hereditary breast cancer from the American Society of Breast Surgeons. Ann Surg Oncol. 2019;26(10):3025–31.PubMedPubMedCentralCrossRef
31.
Zurück zum Zitat Wood ME, Kadlubek P, Pham TH, Wollins DS, Lu KH, Weitzel JN, et al. Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the American Society of Clinical Oncology Quality Oncology Practice Initiative. J Clin Oncol. 2014;32(8):824–9.PubMedPubMedCentralCrossRef Wood ME, Kadlubek P, Pham TH, Wollins DS, Lu KH, Weitzel JN, et al. Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the American Society of Clinical Oncology Quality Oncology Practice Initiative. J Clin Oncol. 2014;32(8):824–9.PubMedPubMedCentralCrossRef
32.
Zurück zum Zitat Kurian AW, Li Y, Hamilton AS, Ward KC, Hawley ST, Morrow M, et al. Gaps in incorporating germline genetic testing into treatment decision-making for early-stage breast cancer. J Clin Oncol. 2017;35(20):2232–9.PubMedPubMedCentralCrossRef Kurian AW, Li Y, Hamilton AS, Ward KC, Hawley ST, Morrow M, et al. Gaps in incorporating germline genetic testing into treatment decision-making for early-stage breast cancer. J Clin Oncol. 2017;35(20):2232–9.PubMedPubMedCentralCrossRef
33.
Zurück zum Zitat Kurian AW, Griffith KA, Hamilton AS, Ward KC, Morrow M, Katz SJ. Jagsi R Genetic testing and counseling among patients with newly diagnosed breast cancer. JAMA. 2017;317(5):531–4.PubMedPubMedCentralCrossRef Kurian AW, Griffith KA, Hamilton AS, Ward KC, Morrow M, Katz SJ. Jagsi R Genetic testing and counseling among patients with newly diagnosed breast cancer. JAMA. 2017;317(5):531–4.PubMedPubMedCentralCrossRef
34.
Zurück zum Zitat Childers CP, Childers KK, Maggard-Gibbons M, Macinko J. National estimates of genetic testing in women with a history of breast or ovarian cancer. J Clin Oncol. 2017;35(34):3800–6.PubMedPubMedCentralCrossRef Childers CP, Childers KK, Maggard-Gibbons M, Macinko J. National estimates of genetic testing in women with a history of breast or ovarian cancer. J Clin Oncol. 2017;35(34):3800–6.PubMedPubMedCentralCrossRef
35.
Zurück zum Zitat Carbine NE, Lostumbo L, Wallace J, Ko H. Risk-reducing mastectomy for the prevention of primary breast cancer. Cochrane Database Syst Rev. 2018;4:CD002748.PubMed Carbine NE, Lostumbo L, Wallace J, Ko H. Risk-reducing mastectomy for the prevention of primary breast cancer. Cochrane Database Syst Rev. 2018;4:CD002748.PubMed
36.
Zurück zum Zitat Ingham SL, Sperrin M, Baildam A, Ross GL, Clayton R, Lalloo F, et al. Evans DG Risk-reducing surgery increases survival in BRCA1/2 mutation carriers unaffected at time of family referral. Breast Cancer Res Treat. 2013;142(3):611–8.PubMedCrossRef Ingham SL, Sperrin M, Baildam A, Ross GL, Clayton R, Lalloo F, et al. Evans DG Risk-reducing surgery increases survival in BRCA1/2 mutation carriers unaffected at time of family referral. Breast Cancer Res Treat. 2013;142(3):611–8.PubMedCrossRef
37.
Zurück zum Zitat Padamsee TJ, Wills CE, Yee LD, Paskett ED. Decision making for breast cancer prevention among women at elevated risk. Breast Cancer Res. 2017;19(1):34.PubMedPubMedCentralCrossRef Padamsee TJ, Wills CE, Yee LD, Paskett ED. Decision making for breast cancer prevention among women at elevated risk. Breast Cancer Res. 2017;19(1):34.PubMedPubMedCentralCrossRef
38.
Zurück zum Zitat Chiba A, Hoskin TL, Hallberg EJ, Cogswell JA, Heins CN, Couch FJ. Boughey JC Impact that timing of genetic mutation diagnosis has on surgical decision making and outcome for BRCA1/BRCA2 mutation carriers with breast cancer. Ann Surg Oncol. 2016;23(10):3232–8.PubMedPubMedCentralCrossRef Chiba A, Hoskin TL, Hallberg EJ, Cogswell JA, Heins CN, Couch FJ. Boughey JC Impact that timing of genetic mutation diagnosis has on surgical decision making and outcome for BRCA1/BRCA2 mutation carriers with breast cancer. Ann Surg Oncol. 2016;23(10):3232–8.PubMedPubMedCentralCrossRef
39.
Zurück zum Zitat Litton JK, Rugo HS, Ettl J, Hurvitz SA, Goncalves A, Lee KH, et al. Talazoparib in patients with advanced breast cancer and a germline BRCA mutation. N Engl J Med. 2018;379(8):753–63.PubMedCrossRef Litton JK, Rugo HS, Ettl J, Hurvitz SA, Goncalves A, Lee KH, et al. Talazoparib in patients with advanced breast cancer and a germline BRCA mutation. N Engl J Med. 2018;379(8):753–63.PubMedCrossRef
40.
Zurück zum Zitat Robson M, Im SA, Senkus E, Xu B, Domchek SM, Masuda N, et al. Conte P Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N Engl J Med. 2017;377(6):523–33.PubMedCrossRef Robson M, Im SA, Senkus E, Xu B, Domchek SM, Masuda N, et al. Conte P Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N Engl J Med. 2017;377(6):523–33.PubMedCrossRef
42.
Zurück zum Zitat Heymann S, Delaloge S, Rahal A, Caron O, Frebourg T, Barreau L, et al. Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. Radiat Oncol. 2010;5:104.PubMedPubMedCentralCrossRef Heymann S, Delaloge S, Rahal A, Caron O, Frebourg T, Barreau L, et al. Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. Radiat Oncol. 2010;5:104.PubMedPubMedCentralCrossRef
43.
Zurück zum Zitat Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, et al. Frebourg T Revisiting Li-Fraumeni syndrome from TP53 mutation carriers. J Clin Oncol. 2015;33(21):2345–52.PubMedCrossRef Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, et al. Frebourg T Revisiting Li-Fraumeni syndrome from TP53 mutation carriers. J Clin Oncol. 2015;33(21):2345–52.PubMedCrossRef
44.
Zurück zum Zitat Kuhl C, Weigel S, Schrading S, Arand B, Bieling H, Konig R, et al. Prospective multicenter cohort study to refine management recommendations for women at elevated familial risk of breast cancer: the EVA trial. J Clin Oncol. 2010;28(9):1450–7.PubMedCrossRef Kuhl C, Weigel S, Schrading S, Arand B, Bieling H, Konig R, et al. Prospective multicenter cohort study to refine management recommendations for women at elevated familial risk of breast cancer: the EVA trial. J Clin Oncol. 2010;28(9):1450–7.PubMedCrossRef
45.
Zurück zum Zitat Passaperuma K, Warner E, Causer PA, Hill KA, Messner S, Wong JW, et al. Narod SA Long-term results of screening with magnetic resonance imaging in women with BRCA mutations. Br J Cancer. 2012;107(1):24–30.PubMedPubMedCentralCrossRef Passaperuma K, Warner E, Causer PA, Hill KA, Messner S, Wong JW, et al. Narod SA Long-term results of screening with magnetic resonance imaging in women with BRCA mutations. Br J Cancer. 2012;107(1):24–30.PubMedPubMedCentralCrossRef
46.
Zurück zum Zitat Warner E, Hill K, Causer P, Plewes D, Jong R, Yaffe M, et al. Prospective study of breast cancer incidence in women with a BRCA1 or BRCA2 mutation under surveillance with and without magnetic resonance imaging. J Clin Oncol. 2011;29(13):1664–9.PubMedPubMedCentralCrossRef Warner E, Hill K, Causer P, Plewes D, Jong R, Yaffe M, et al. Prospective study of breast cancer incidence in women with a BRCA1 or BRCA2 mutation under surveillance with and without magnetic resonance imaging. J Clin Oncol. 2011;29(13):1664–9.PubMedPubMedCentralCrossRef
47.
Zurück zum Zitat Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010;304(9):967–75.PubMedPubMedCentralCrossRef Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010;304(9):967–75.PubMedPubMedCentralCrossRef
48.
Zurück zum Zitat Finch AP, Lubinski J, Moller P, Singer CF, Karlan B, Senter L, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32(15):1547–53.PubMedPubMedCentralCrossRef Finch AP, Lubinski J, Moller P, Singer CF, Karlan B, Senter L, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32(15):1547–53.PubMedPubMedCentralCrossRef
49.
Zurück zum Zitat • Theobald KA, Susswein LR, Marshall ML, Roberts ME, Mester JL, Speyer D, et al. Utility of expedited hereditary cancer testing in the surgical management of patients with a new breast cancer diagnosis. Ann Surg Oncol. 2018;25(12):3556–62 An important paper which demonstrates the importance of expanded panels when testing for hereditary breast cancer. PubMedCrossRef • Theobald KA, Susswein LR, Marshall ML, Roberts ME, Mester JL, Speyer D, et al. Utility of expedited hereditary cancer testing in the surgical management of patients with a new breast cancer diagnosis. Ann Surg Oncol. 2018;25(12):3556–62 An important paper which demonstrates the importance of expanded panels when testing for hereditary breast cancer. PubMedCrossRef
50.
Zurück zum Zitat Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, et al. Mutation detection in patients with advanced cancer by universal sequencing of cancer-related genes in tumor and normal DNA vs guideline-based germline testing. JAMA. 2017;318(9):825–35.PubMedPubMedCentralCrossRef Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, et al. Mutation detection in patients with advanced cancer by universal sequencing of cancer-related genes in tumor and normal DNA vs guideline-based germline testing. JAMA. 2017;318(9):825–35.PubMedPubMedCentralCrossRef
51.
Zurück zum Zitat Yadav S, Reeves A, Campian S, Paine A, Zakalik D. Outcomes of retesting BRCA negative patients using multigene panels. Familial Cancer. 2017;16(3):319–28.PubMedCrossRef Yadav S, Reeves A, Campian S, Paine A, Zakalik D. Outcomes of retesting BRCA negative patients using multigene panels. Familial Cancer. 2017;16(3):319–28.PubMedCrossRef
52.
Zurück zum Zitat • Crawford B, Adams SB, Sittler T, van den Akker J, Chan S, Leitner O, et al. Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. Breast Cancer Res Treat. 2017;163(2):383–90 An important study which shows the benefits of expanded testing when considering hereditary breast cancer. PubMedPubMedCentralCrossRef • Crawford B, Adams SB, Sittler T, van den Akker J, Chan S, Leitner O, et al. Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. Breast Cancer Res Treat. 2017;163(2):383–90 An important study which shows the benefits of expanded testing when considering hereditary breast cancer. PubMedPubMedCentralCrossRef
53.
Zurück zum Zitat Elsayegh N, Webster RD, Gutierrez Barrera AM, Lin H, Kuerer HM, Litton JK, et al. Arun BK Contralateral prophylactic mastectomy rate and predictive factors among patients with breast cancer who underwent multigene panel testing for hereditary cancer. Cancer Med. 2018;7(6):2718–26.PubMedPubMedCentralCrossRef Elsayegh N, Webster RD, Gutierrez Barrera AM, Lin H, Kuerer HM, Litton JK, et al. Arun BK Contralateral prophylactic mastectomy rate and predictive factors among patients with breast cancer who underwent multigene panel testing for hereditary cancer. Cancer Med. 2018;7(6):2718–26.PubMedPubMedCentralCrossRef
Metadaten
Titel
Panel Testing for Hereditary Breast Cancer: More or Less?
verfasst von
Kara K. Landry
Marie E. Wood
Publikationsdatum
20.05.2020
Verlag
Springer US
Erschienen in
Current Breast Cancer Reports / Ausgabe 2/2020
Print ISSN: 1943-4588
Elektronische ISSN: 1943-4596
DOI
https://doi.org/10.1007/s12609-020-00361-4

Weitere Artikel der Ausgabe 2/2020

Current Breast Cancer Reports 2/2020 Zur Ausgabe

Non-Invasive Breast Cancer Diagnosis and Treatment (ES Hwang, Section Editor)

Treatment from within: Ductal Carcinoma as an Opportunity to Harness the Immune System

Non-Invasive Breast Cancer Diagnosis and Treatment (ES Hwang, Section Editor)

Treatment of Ductal Carcinoma In Situ: Considerations for Tailoring Therapy in the Contemporary Era

Non-Invasive Breast Cancer Diagnosis and Treatment (ES Hwang, Section Editor)

DCIS: Radiation Considerations

Non-Invasive Breast Cancer Diagnosis and Treatment (ES Hwang, Section Editor)

Ductal Carcinoma In Situ—Pathological Considerations

Non-Invasive Breast Cancer Diagnosis and Treatment (ES Hwang, Section Editor)

Ductal Carcinoma In Situ (DCIS): the Importance of Patient-Reported Outcomes (PRO)

Update Onkologie

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