Next-generation sequencing for inherited breast cancer risk: Counseling through the complexity topical collection on breast cancer

Current Oncology Reports

Volumn 16, Issue 3, 2014, Pages

  Rainville, Irene R ^a   Rana, Huma Q ^a  

^a NONE   (United States)

Author keywords

ATM; BRCA1; BRCA2; Breast cancer; BRIP1; CDH1; CHEK2; FANC; Gene panels; HBOC; Hereditary breast cancer; Massively parallel sequencing; MRE11A; Multiplex; MUTYH; NBN; Next generation sequencing; Oncology; PALB2; Panel testing; PTEN; RAD50; STK11; TP53

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; BRIP1 PROTEIN; CHECKPOINT KINASE 2; FIZZY RELATED PROTEIN; MRE11A PROTEIN; NIBRIN; PALB2 PROTEIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN; PROTEIN KINASE LKB1; PROTEIN P53; RAD50 PROTEIN; UNCLASSIFIED DRUG; TUMOR PROTEIN;

ARTICLE; BREAST CANCER; CANCER DIAGNOSIS; CANCER EPIDEMIOLOGY; CANCER PREVENTION; CANCER RISK; CANCER SURGERY; CANCER SUSCEPTIBILITY; CLINICAL FEATURE; DNA SEQUENCE; FAMILY HISTORY; GASTRECTOMY; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; HERITABILITY; HUMAN; INFORMED CONSENT; MAMMOGRAPHY; MASTECTOMY; MISMATCH REPAIR; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT COUNSELING; PLEIOTROPY; POLYPOSIS; RISK REDUCTION; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; BREAST TUMOR; CASE REPORT; COUNSELING; FEMALE; GENETIC PREDISPOSITION; GENETICS; METHODOLOGY; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PEDIGREE; REVIEW;

BREAST NEOPLASMS; COUNSELING; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC VARIATION; HUMANS; MIDDLE AGED; NEOPLASM PROTEINS; PEDIGREE;

EID: 84899436211     PISSN: 15233790     EISSN: 15346269     Source Type: Journal    
DOI: 10.1007/s11912-013-0371-z     Document Type: Article

References (90)

1. 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.
2. NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian http://www.nccn.org/professionals/physician-gls/ pdf/genetics-screening.pdf.
3. Newman B, Austin MA, Lee M, King MC. Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families. Proc Natl Acad Sci U S A. 1988;85(9):3044-8.
4. Ellis NA, Offit K. Heterozygous mutations in DNA repair genes and hereditary breast cancer: a question of power. PLoS Genet. 2012;8(9):e1003008.
5. Complexo, Southey MC, Park DJ, Nguyen-Dumont T, Campbell I, Thompson E, et al. COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration. BCR. 2013;15(3):402.
6. Mardis ER. A decade's perspective on DNA sequencing technology. Nature. 2011;470(7333):198-203.
7. Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011;108(44):18032-7. Massive parallel sequencing identified germline mutations in 23% of women with ovarian cancer.
8. Domchek SM, Bradbury A, Garber JE, Offit K, Robson ME. Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol Off J Am Soc Clin Oncol. 2013;31(10):1267-70.
9. King MC, Lee GM, Spinner NB, Thomson G, Wrensch MR. Genetic epidemiology. Annu Rev Public Health. 1984;5:1-52.
10. Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008;29(11):1282-91.
11. Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007. Genet Med Off J Am Coll Med Genet. 2008;10(4):294-300.
12. Hilbers F, Vreeswijk M, van Asperen C, Devilee P. The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation? Clin Genet. 2013;84(5):407-14.
13. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990;250(4988):1684-9.
14. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266(5182):66-71.
15. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378(6559):789-92.
16. Venkitaraman AR. Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell. 2002;108(2):171-82.
17. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. Br J Cancer. 2000;83(10):1301-8.
18. Offit K, Gilewski T, McGuire P, Schluger A, Hampel H, Brown K, et al. Germline BRCA1 185delAG mutations in Jewish women with breast cancer. Lancet. 1996;347(9016):1643-5.
19. Oddoux C, Struewing JP, Clayton CM, Neuhausen S, Brody LC, Kaback M, et al. The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet. 1996;14(2):188-90.
20. Domchek SM, Tang J, Stopfer J, Lilli DR, Hamel N, Tischkowitz M, et al. Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. Cancer Discov. 2013;3(4):399-405.
21. Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002;297(5581):606-9.
22. Xia B, Sheng Q, Nakanishi K, Ohashi A, Wu J, Christ N, et al. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell. 2006;22(6):719-29.
23. Oliver AW, Swift S, Lord CJ, Ashworth A, Pearl LH. Structural basis for recruitment of BRCA2 by PALB2. EMBO Rep. 2009;10(9):990-6.
24. Southey MC, Teo ZL, Winship I. PALB2 and breast cancer: ready for clinical translation! Appl Clin Genet. 2013;6:43-52. A comprehensive review article summarizing the current data on germline PALB2 mutations.
25. Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet. 2007;39(2):162-4.
26. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007;39(2):165-7.
27. Erkko H, Dowty JG, Nikkila J, Syrjakoski K, Mannermaa A, Pylkas K, et al. Penetrance analysis of the PALB2 c.1592delT founder mutation. Clin Cancer Res Off J Am Assoc Cancer Res. 2008;14(14):4667-71.
28. Malkin D, Jolly KW, Barbier N, Look AT, Friend SH, Gebhardt MC, et al. Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. N Engl J Med. 1992;326(20):1309-15.
29. Malkin D, Li FP, Strong LC, Fraumeni Jr JF, Nelson CE, Kim DH, et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science. 1990;250(4985):1233-8.
30. Nichols KE, Malkin D, Garber JE, Fraumeni Jr JF, Li FP. Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiol Biomarkers Prev Publ Am Assoc Cancer Res Cosponsored Am Soc Prev Oncol. 2001;10(2):83-7.
31. Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, et al. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res. 2003;63(20):6643-50.
32. Lalloo F, Evans DG. Familial breast cancer. Clin Genet. 2012;82(2):105-14.
33. Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA. 2006;295(12):1379-88.
34. Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, et al. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res. 1994;54(5):1298-304.
35. Masciari S, Dillon DA, Rath M, Robson M, Weitzel JN, Balmana J, et al. Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort. Breast Cancer Res Treat. 2012;133(3):1125-30.
36. Melhem-Bertrandt A, Bojadzieva J, Ready KJ, Obeid E, Liu DD, Gutierrez-Barrera AM, et al. Early onset HER2-positive breast cancer is associated with germline TP53 mutations. Cancer. 2012;118(4):908-13.
37. Wilson JR, Bateman AC, Hanson H, An Q, Evans G, Rahman N, et al. A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations. J Med Genet. 2010;47(11):771-4.
38. Rath MG, Masciari S, Gelman R, Miron A, Miron P, Foley K, et al. Prevalence of germline TP53 mutations in HER2+ breast cancer. Breast Cancer Res Treat. 2013;139(1):193-8.
39. Garritano S, Gemignani F, Palmero EI, Olivier M, Martel-Planche G, Le Calvez-Kelm F, et al. Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. Hum Mutat. 2010;31(2):143-50.
40. Assumpcao JG, Seidinger AL, Mastellaro MJ, Ribeiro RC, Zambetti GP, Ganti R, et al. Association of the germline TP53 R337H mutation with breast cancer in southern Brazil. BMC Cancer. 2008;8:357.
41. Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet. 1996;13(1):114-6.
42. Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet. 2013;50(4):255-63.
43. Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res Off J Am Assoc Cancer Res. 2012;18(2):400-7.
44. Piccione M, Fragapane T, Antona V, Giachino D, Cupido F, Corsello G. PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol. Am J Med Genet A. 2013;161A(11):2902-8.
45. Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW. Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. J Med Genet. 2011;48(8):505-12.
46. McGarrity TJ, Amos CI, Frazier ML, Wei C. Peutz-Jeghers Syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews. Seattle (WA); 1993.
47. van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol. 2010;105(6):1258-64. author reply 65.
48. NCCN Clinical Practice Guidelines in Oncology: Colorectal Cancer Screening http://www.nccn.org/professionals/physician-gls/pdf/colorectal- screening.pdf49.
49. Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, et al. E-cadherin germline mutations in familial gastric cancer. Nature. 1998;392(6674):402-5.
50. Schrader KA, Masciari S, Boyd N, Salamanca C, Senz J, Saunders DN, et al. Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers. J Med Genet. 2011;48(1):64-8.
51. Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V, et al. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet. 2010;47(7):436-44.
52. Offit K, Garber JE. Time to check CHEK2 in families with breast cancer? J Clin Oncol Off J Am Soc Clin Oncol. 2008;26(4):519-20.
53. Cybulski C, Wokolorczyk D, Jakubowska A, Huzarski T, Byrski T, Gronwald J, et al. Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. J Clin Oncol Off J Am Soc Clin Oncol. 2011;29(28):3747-52.
54. Weischer M, Nordestgaard BG, Pharoah P, Bolla MK, Nevanlinna H, Van't Veer LJ, et al. CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. J Clin Oncol Off J Am Soc Clin Oncol. 2012;30(35):4308-16.
55. Ma X, Zhang B, Zheng W. Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Gut. 2013;63(2):326-36.
56. Adank MA, Verhoef S, Oldenburg RA, Schmidt MK, Hooning MJ, Martens JW, et al. Excess breast cancer risk in first degree relatives of CHEK2*1100delC positive familial breast cancer cases. Eur J Cancer. 2013;49(8):1993-9.
57. Narod SA. Testing for CHEK2 in the cancer genetics clinic: ready for prime time? Clin Genet. 2010;78(1):1-7.
58. Cybulski C, Huzarski T, Byrski T, Gronwald J, Debniak T, Jakubowska A, et al. Estrogen receptor status in CHEK2-positive breast cancers: implications for chemoprevention. Clin Genet. 2009;75(1):72-8.
59. Adank MA, Jonker MA, Kluijt I, van Mil SE, Oldenburg RA, Mooi WJ, et al. CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women. J Med Genet. 2011;48(12):860-3.
60. Huijts PE, Hollestelle A, Balliu B, Houwing-Duistermaat JJ, Meijers CM, Blom JC, et al. CHEK2*1100delC homozygosity in the Netherlands-prevalence and risk of breast and lung cancer. Eur J Hum Genet. 2013;22(1):46-51.
61. Lavin MF. Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer. Nat Rev Mol Cell Biol. 2008;9(10):759-69.
62. Swift M, Reitnauer PJ, Morrell D, Chase CL. Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med. 1987;316(21):1289-94.
63. Ahmed M, Rahman N. ATM and breast cancer susceptibility. Oncogene. 2006;25(43):5906-11.
64. Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 2006;38(8):873-5.
65. Stracker TH, Petrini JH. The MRE11 complex: starting from the ends. Nat Rev Mol Cell Biol. 2011;12(2):90-103.
66. Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell. 1998;93(3):467-76.
67. Varon R, Reis A, Henze G, von Einsiedel HG, Sperling K, Seeger K. Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res. 2001;61(9):3570-2.
68. Zhang B, Beeghly-Fadiel A, Long J, Zheng W. Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Lancet Oncol. 2011;12(5):477-88.
69. Steffen J, Nowakowska D, Niwinska A, Czapczak D, Kluska A, Piatkowska M, et al. Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer J Int du Cancer. 2006;119(2):472-5.
70. Narod SA. Genetic variants associated with breast-cancer risk. Lancet Oncol. 2011;12(5):415-6.
71. Heikkinen K, Rapakko K, Karppinen SM, Erkko H, Knuutila S, Lundan T, et al. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis. 2006;27(8):1593-9.
72. Roznowski K, Januszkiewicz-Lewandowska D, Mosor M, Pernak M, Litwiniuk M, Nowak J. I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer. Breast Cancer Res Treat. 2008;110(2):343-8.
73. Stewart GS, Maser RS, Stankovic T, Bressan DA, Kaplan MI, Jaspers NG, et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell. 1999;99(6):577-87.
74. Taylor AM, Groom A, Byrd PJ. Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. DNA Repair. 2004;3(8-9):1219-25.
75. Bartkova J, Tommiska J, Oplustilova L, Aaltonen K, Tamminen A, Heikkinen T, et al. Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene. Mol Oncol. 2008;2(4):296-316.
76. Heikkinen K, Karppinen SM, Soini Y, Makinen M, Winqvist R. Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility. J Med Genet. 2003;40(12):e131.
77. Tommiska J, Seal S, Renwick A, Barfoot R, Baskcomb L, Jayatilake H, et al. Evaluation of RAD50 in familial breast cancer predisposition. Int J Cancer J Int du Cancer. 2006;118(11):2911-6.
78. Park YB, Chae J, Kim YC, Cho Y. Crystal structure of human Mre11: understanding tumorigenic mutations. Structure. 2011;19(11):1591-602.
79. Schiller CB, Lammens K, Guerini I, Coordes B, Feldmann H, Schlauderer F, et al. Structure of Mre11-Nbs1 complex yields insights into ataxia- telangiectasia-like disease mutations and DNA damage signaling. Nat Struct Mol Biol. 2012;19(7):693-700.
80. Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW, et al. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet. 2005;37(9):934-5.
81. Litman R, Peng M, Jin Z, Zhang F, Zhang J, Powell S, et al. BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. Cancer Cell. 2005;8(3):255-65.
82. Cantor SB, Bell DW, Ganesan S, Kass EM, Drapkin R, Grossman S, et al. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell. 2001;105(1):149-60.
83. Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet. 2006;38(11):1239-41.
84. Rafnar T, Gudbjartsson DF, Sulem P, Jonasdottir A, Sigurdsson A, Jonasdottir A, et al. Mutations in BRIP1 confer high risk of ovarian cancer. Nat Genet. 2011;43(11):1104-7.
85. Out AA, Wasielewski M, Huijts PE, van Minderhout IJ, Houwing-Duistermaat JJ, Tops CM, et al. MUTYH gene variants and breast cancer in a Dutch case-control study. Breast Cancer Res Treat. 2012;134(1):219-27.
86. Rennert G, Lejbkowicz F, Cohen I, Pinchev M, Rennert HS, Barnett-Griness O. MutYH mutation carriers have increased breast cancer risk. Cancer. 2012;118(8):1989-93.
87. Zhu M, Chen X, Zhang H, Xiao N, Zhu C, He Q, et al. AluYb8 insertion in the MUTYH gene and risk of early-onset breast and gastric cancers in the Chinese population. APJCP. 2011;12(6):1451-5.
88. Win AK, Lindor NM, Jenkins MA. Risk of breast cancer in Lynch syndrome: a systematic review. BCR. 2013;15(2):R27.
89. Gracia-Aznarez FJ, Fernandez V, Pita G, Peterlongo P, Dominguez O, de la Hoya M, et al. Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PloS One. 2013;8(2):e55681.
90. Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, et al. Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet. 2012;8(9):e1002894.