The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective

Breast Cancer Research and Treatment

Volumn 154, Issue 3, 2015, Pages 441-453

  Dutil, Julie ^a   Golubeva, Volha A ^b   Pacheco Torres, Alba L ^a   Diaz Zabala, Hector J ^a   Matta, Jaime L ^a   Monteiro, Alvaro N ^b  

^a PONCE HEALTH SCIENCES UNIVERSITY   (Puerto Rico)

^b H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

Author keywords

BRCA1; BRCA2; Breast cancer; Genetic testing; Hereditary; Hispanics; Latin America

Indexed keywords

ALLELE; CANCER GENETICS; CARIBBEAN; EXON; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOSITY; HUMAN; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL; REVIEW; TUMOR SUPPRESSOR GENE; UNITED STATES; BREAST TUMOR; FEMALE; GENETIC PREDISPOSITION; GENETICS; HISPANIC; META ANALYSIS; MUTATION; OVARY TUMOR; SOUTH AND CENTRAL AMERICA;

BRCA1 PROTEIN; BRCA1 PROTEIN, HUMAN; BRCA2 PROTEIN; BRCA2 PROTEIN, HUMAN;

BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; CARIBBEAN REGION; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETICS, POPULATION; HISPANIC AMERICANS; HUMANS; LATIN AMERICA; MUTATION; OVARIAN NEOPLASMS; UNITED STATES;

EID: 84948381562     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-015-3629-3     Document Type: Review

References (96)

1. Jemal A, Bray F, Center MM, Ferlay J, Ward E, Forman D (2011) Global cancer statistics. CA Cancer J Clin 61:69–90
2. Ellis MJ, Perou CM (2013) The genomic landscape of breast cancer as a therapeutic roadmap. Cancer Discov 3:27–34
3. The Cancer Genome Atlas Network (2012) Comprehensive molecular portraits of human breast tumors. Nature 490:61–70
4. Walsh T, King MC (2007) Ten genes for inherited breast cancer. Cancer Cell 11:103–105
5. Fanale D, Amodeo V, Corsini LR, Rizzo S, Bazan V, Russo A (2012) Breast cancer genome-wide association studies: there is strength in numbers. Oncogene 31:2121–2128
6. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, Bell R, Rosenthal J et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66–71
7. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G, Barfoot R, Hamoudi R et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789–792
8. Peto J, Collins N, Barfoot R, Seal S, Seal S, Warren W, Rahman N, Eatson DF, Deacon J, Stratton MR (1999) Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 91:943–949
9. Claus EB, Schildkraut JM, Thompson WD, Risch NJ (1996) The genetic attributable risk of breast and ovarian cancer. Cancer 77:2318–2324
10. Brose MS, Rebbeck TR, Calzone KA, Stopfer JE, Nathanson KL, Weber BL (2002) Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 94:1365–1372
11. Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25:1329–1333
12. Easton DF, Ford D, Bishop DT (1995) Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 56:265–271
13. Antoniou A, Pharoah PDP, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg Å, Pasini B, Radice P et al (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 72:1117–1130
14. Ford D (1994) Risks of cancer in BRCA1-mutation carriers. Lancet 343:692–695
15. King MC, Marks JH, Mandel JB, New York Breast Cancer Study Group (2003) Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302:643–646
16. Breast Cancer Linkage Consortium (1999) Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 91:1310–1316
17. Thompson D, Easton DF (2002) Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst 94:1358–1365
18. Pruthi S, Gostout BS, Lindor NM (2010) Identification and management of women with BRCA mutations or hereditary predisposition for breast and ovarian cancer. Mayo Clin Proc 85:1111–1120
19. Scheuer L, Kauff N, Robson M, Kelly B, Barakat R, Satagopan J, Ellis N, Hensley M, Boyd J, Brogen P, Norton L, Offit K (2002) Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol 20:1260–1268
20. Ferreira FH, Messina J, Rigolini J, Lopez-Calva L-F, Lugo MA, Vakis R (2013) Economic mobility and the rise of the Latin American middle class. World Bank, Washington, DC
21. Siegel R, Naishadham D, Jemal A (2012) Cancer statistics for Hispanics/Latinos, 2012. CA Cancer J Clin 62:283–298
22. Goss PE, Lee BL, Badovinac-Crnjevic T, Strasser-Weippl K, Chavarri-Guerra Y, Louis JS, Villarreal-Garza C, Unger-Saldaña K, Ferreyra M, Debiasi M, Liedke PE, Touya D et al (2013) Planning cancer control in Latin America and the Caribbean. Lancet Oncol 14:391–436
23. Chavarri-Guerra Y, Louis JS, Liedke PE, Symecko H, Villarreal-Garza C, Mohar A, Finkelstein DM, Goss PE (2014) Access to care issues adversely affect breast cancer patients in Mexico: oncologists’ perspective. BMC Cancer 14:658
24. Mohar A, Bargalló E, Ramírez MT, Lara F, Beltrán-Ortega A (2009) Recursos disponibles para el tratamiento del cáncer de mama en México. Salud Publica Mex 51:s263–s269
25. Xuan J, Yu Y, Qing T, Guo L, Shi L (2013) Next-generation sequencing in the clinic: promises and challenges. Cancer Lett 340:284–295
26. Domchek SM, Bradbury A (2013) Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol 31:1267–1270
27. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC (2002) Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 20:1480–1490
28. Gerhardus A, Schleberger H, Schlegelberger B, Gadzicki D (2007) Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review. Eur J Hum Genet 15:619–627
29. Ewald IP, Ribeiro PL, Palmero EI, Cossio SL, Giugliani R, Ashton-Prolla P (2009) Genomic rearrangements in BRCA1 and BRCA2: a literature review. Genet Mol Biol 32:437–446
30. Judkins T, Rosenthal E, Arnell C, Burbidge LA, Geary W, Barrus T, Schoenberger J, Trost J, Wenstrup RJ, Roa BB (2012) Clinical significance of large rearrangements in BRCA1 and BRCA2. Cancer 118:5210–5216
31. Weitzel JL, Clague J, Martir-Negron A, Ogaz R, Herzog J, Ricker C, Jungbluth C, Cina C, Duncan P, Unzeitig G, Saldivar JS, Beattie M et al (2013) Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. J Clin Oncol 31:210–216
32. Dutil J, Colon-Colon J, Matta JL, Sutphen R, Echenique M (2012) Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico. Cancer Genet 205:242–248
33. Gomes MCB, Costa MM, Borojevic R, Monteiro ANA, Vieira R, Koifman S, Koifman RJ, Li S, Royer R, Zhang S, Narod SA (2007) Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat 103:349–353
34. Torres D, Umana A, Robledo JF (2009) Estudio de factores genéticos para cáncer de mama en Colombia. Univ Med Bogotá 50:297–301
35. Hernandez JE, Llacuachaqui M (2014) Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Medellín, Colombia. Hered Cancer Clin Pract 12:11
36. Rodriguez RC, Esperon AA, Ropero R, Rubio MC, Rodriguez R, Ortiz RM, Anta JJL, de los Rios M, Carnesolta D, del Olivera MC, Vansam SS, Royer R et al (2008) Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba. Fam Cancer 7:275–279
37. Villarreal-Garza C, Alvarez-Gomez RM, Pérez-Plasencia C, Herrera LA, Herzog J, Castillo D, Mohar A, Castro C, Gallardo LN, Gallardo D, Santibáñez M, Blazer KR et al (2015) Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico. Cancer 121:372–378
38. Torres-Mejía G, Royer R, Llacuachaqui M, Akbari MR, Giuliano AR, Martínez-Matsushita L, Angeles-Llerenas A, Ortega-Olvera C, Ziv E, Lazcano-Ponce E, Phelan CM, Narod SA (2015) Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer. Cancer Epidemiol Biomarkers Prev 24:498–505
39. Abugattas J, Llacuachaqui M, Allende YS, Velásquez AA, Velarde R, Cotrina J, Garcés M, León M, Calderón G, de la Cruz M, Mora P, Royer R et al (2014) Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru. Clin Genet. doi:10.1111/cge.12505
40. Malone KE, Daling JR, Doody DR, Hsu L, Bernstein L, Coates RJ, Marchbanks PA, Simon MS, McDonald JA, Norman SA, Strom BL, Burkman RT et al (2006) Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years. Cancer Res 66:8297–8308
41. Akbari MR, Donenberg T, Lunn J, Curling D, Turnquest T, Krill Jackson E, Zhang E, Zhang S, Narod SA, Hurley J (2014) The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas. Clin Genet 85:64–67
42. Donenberg T, Lunn J, Curling D, Turnquest T, Krill-Jackson E, Royer R, Narod SA, Hurley J (2011) A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas. Breast Cancer Res Treat 125:591–596
43. King MC, Levy-Lahad E, Lahad A (2014) Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award. JAMA 312:1091–1092
44. Dufloth RM, Carvalho S, Heinrich JK, Shinzato JY, Santos CCD, Zeferino LC, Schmitt F (2005) Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history. Sao Paulo Med J 123:192–197
45. Esteves VF, Thuler LCS, Amêndola LC, Koifman RJ, Koifman S, Frankel PP, Vieira RJS (2009) Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil. Braz J Med Biol Res 42:453–457
46. Ewald IP, Izetti P, Vargas FR, Moreira MA (2011) Prevalence of the BRCA1 founder mutation c. 5266dup in Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome. Hered Cancer Clin Pract 9:12
47. Felix GE, Abe-Sandes C, Machado-Lopes TM, Bomfim TF, Guindalini RSC, Santos VCS, Meyer L, Oliveira PC, Neiva JC, Meyer R, Romeo M, Toralles MB et al (2014) Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian population. Hum Genome Var 1:14012
48. Silva FC, Lisboa BC, Figueiredo MC, Torrezan GT, Santos ÉM, Krepischi AC, Rossi BM, Achatz MI, Carraro DM (2014) Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC Med Genet 15:55
49. Ruiz-Flores P, Sinilnikova OM, Badzioch M, Calderón-Garcidueñas AL, Chopin S, Fabrice O, González Guerrero JF, Szabo C, Lenoir G, Goldgar DE, Barrera-Saldaña HA (2002) BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. Hum Mut 20:474–475
50. Calderón-Garcidueñas AL, Ruiz-Flores P, Cerda-Flores RM, Barrera-Saldaña HA (2005) Clinical follow up of Mexican women with early onset of breast cancer and mutations in the BRCA1 and BRCA2 genes. Salud Publica Mex 47:110–115
51. Vaca-Paniagua F, Alvarez-Gomez RM, Fragoso-Ontiveros V, Vidal-Millan S, Herrera LA, Cantú D, Bargallo-Rocha E, Mohar A, López-Camarillo C, Pérez-Plasencia C (2012) Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer. PLoS ONE 7:e37432
52. Villarreal-Garza C, Weitzel JN, Llacuachaqui M, Sifuentes E, Magallanes-Hoyos MC, Gallardo L, Alvarez-Gomez RM, Herzog J, Castillo D, Royer R, Akbari M, Lara-Medina F et al (2015) The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer. Breast Cancer Res Treat 150:389–394
53. Mullineaux LG, Castellano TM, Shaw J, Axell L, Wood ME, Diab S, Klein C, Sitarik M, Deffenbaugh AM, Graw SL (2003) Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley. Colorado. Cancer 98:597–602
54. McKean-Cowdin R, Feigelson HS, Xia LY, Pearce CL, Thomas DC, Stram DO, Henderson BE (2005) BRCA1 variants in a family study of African–American and Latina women. Hum Genet 116:497–506
55. Vogel KJ, Atchley DP, Erlichman J, Broglio KR, Ready KJ, Valero V, Amos CI, Hortobagyi GN, Lu KH, Arun B (2007) BRCA1 and BRCA2 genetic testing in Hispanic patients: mutation prevalence and evaluation of the BRCAPRO risk assessment model. J Clin Oncol 25:4635–4641
56. John EM, Miron A, Gong G, Phipps AI, Felberg A, Li FP, West DW, Whittemore AS (2007) Prevalence of pathogenic BRCA1 mutation carriers in 5 US Racial/Ethnic Groups. JAMA 298:2869–2876
57. Weitzel JN, Lagos V, Blazer KR, Nelson R, Ricker C, Herzog J, McGuire C, Neuhausen S (2005) Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev 14:1666–1671
58. Gutiérrez Espeleta GA, Llacuachaqui M, García Jiménez L, Aguilar Herrera M, Loáiciga Vega K, Ortiz A, Royer R, Li S, Narod SA (2012) BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica. Clin Genet 82:484–488
59. Delgado L, Fernández G, Grotiuz G, Cataldi S, González A, Lluveras N, Heguaburu M, Fresco R, Lens D, Sabini G, Muse IM (2011) BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast-ovarian cancer families. Identification of novel mutations and unclassified variants. Breast Cancer Res Treat 128:211–218
60. Hedenfalk I, Duggan D, Chen Y, Radmacher M, Bittner M, Simon R, Meltzer P, Gusterson B, Esteller M, Kallioniemi OP, Wilfond B, Borg A et al (2001) Gene-expression profiles in hereditary breast cancer. N Engl J Med 344(8):539–548
61. Lakhani SR, Jacquemier J, Sloane JP, Gusterson BA, Anderson TJ, van de Vijver MJ, Farid LM, Venter D, Antoniou A, Storfer-Isser A, Smyth E, Steel CM, Haites N et al (1998) Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst 90:1138–1145
62. Sorlie T, Tibshirani R, Parker J, Hastie T, Marron JS, Nobel A, Deng S, Johnsen H, Pesich R, Geisler S, Demeter J, Perou CM et al (2003) Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci U S A 100:8418–8423
63. Lakhani SR, Reis-Filho JS, Fulford L, Penault-Llorca F, van der Vijver M, Parry S, Bishop T, Benitez J, Rivas C, Bignon YJ, Chang-Claude J, Hamann U, Cornelisse CJ et al (2005) Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res 11:5175–5180
64. Bane AL, Beck JC, Bleiweiss I, Buys SS, Catalano E, Daly MB, Giles G, Godwin AK, Hibshoosh H, Hopper JL, John EM, Layfield L et al (2007) BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays. Am J Surg Pathol 31:121–128
65. Torres D, Rashid MU, Gil F, Umana A, Ramelli G, Robledo JF, Tawil M, Torregrosa L, Briceno I, Hamann U (2007) High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. Breast Cancer Res Treat 103:225–232
66. Rodríguez AO, Llacuachaqui M, Pardo GG, Royer R, Larson G, Weitzel JN, Narod SA (2012) BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia. Gynecol Oncol 124:236–243
67. Solano AR, Aceto GM, Delettieres D, Veschi S, Neuman MI, Alonso E, Chialina S, Chacón RD, Renato M-C, Podestá EJ (2012) BRCA1 and BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin. Springerplus 1:20
68. Lara K, Consigliere N, Pérez J, Porco A (2012) BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela. Biol Res 45:117–130
69. Gallardo M, Silva A, Rubio L, Alvarez C, Torrealba C, Salinas M, Tapia T, Faundez P, Palma L, Riccio ME, Paredes H, Rodriguez M et al (2006) Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype–phenotype correlations. Breast Cancer Res Treat 95:81–87
70. Gonzalez-Hormazabal P, Gutierrez-Enriquez S, Gaete D, Reyes JM, Peralta O, Waugh E, Gomez F, Margarit S, Bravo T, Blanco R, Diez O, Jara L (2011) Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families. Breast Cancer Res Treat 126:705–716
71. Salary K (2011) Gonzalez Burchard E. Latino populations: a unique opportunity for the study of race, genetics, and social environment in epidemiological research. Paediatr Perinat Epidemiol 95:2161–2168
72. Salzano FM, Sans M (2013) Interethnic admixture and the evolution of Latin American populations. Genet Mol Biol 37:151–170
73. Benn Torres J, Bonilla C, Robbins CM, Waterman L, Moses TY, Hernandez W, Santos ER, Bennett F, Aiken W, Tullock T, Coard K, Hennis A et al (2008) Admixture and population stratification in African Caribbean populations. Ann Hum Genet 72:90–98
74. Avena S, Via M, Ziv E, Pérez-Stable EJ, Gignoux CR, Dejean C, Huntsman S, Torres-Mejía G, Dutil J, Matta JL, Beckman K, Burchard EG et al (2012) Heterogeneity in genetic admixture across different regions of Argentina. PLoS ONE 7:e34695
75. Via M, Gignoux CR, Roth LA, Fejerman L, Galanter J, Choudhry S, Toro-Labrador G, Viera-Vera J, Oleksyk TK, Beckman K, Ziv E, Risch N et al (2011) History shaped the geographic distribution of genomic admixture on the island of Puerto Rico. PLoS ONE 6:e16513
76. Wang S, Ray N, Rojas W, Parra MV, Bedoya G, Gallo C, Poletti G, Mazzotti G, Hill K, Hurtado AM, Camrena B, Nicolini H et al (2008) Geographic patterns of genome admixture in Latin American Mestizos. PLoS Genet 4:e1000037
77. Burkholder MA, Johson LL (2014) Colonial Latin America, 9th edn. Oxford University Press, Oxford, p 432p
78. Salzano FM, Bortolini MC (2001) The evolution and genetics of Latin American populations, 1st edn. Cambridge University Press, Cambridge
79. Genomes Project Consortium (2012) An integrated map of genetic variation from 1092 human genomes. Nature 491:56–65
80. Hall MJ, Reid JE, Burbidge LA, Pruss D, Deffenbaugh AM, Frye C, Wenstrup RJ, Ward BE, Scholl TA, Noll WW (2009) BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer 115:2222–2233
81. Mefford HC, Baumbach L, Panguluri RC, Whitfield-Broome C, Szabo C, Smith S, King MC, Dunston G, Stoppa-Lyonnet D, Arena F (1999) Evidence for a BRCA1 founder mutation in families of West African ancestry. Am J Hum Genet 65:575–578
82. Weitzel JN, Lagos VI, Herzog JS, Judkins T, Hendrickson B, Ho JS, Ricker CN, Lowstuter KJ, Blazer KR, Tomlinson G, Scholl T (2007) Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev 16:1615–1620
83. Blesa JR, García JA, Ochoa E (2000) Frequency of germ-line BRCA 1 mutations among Spanish families from a Mediterranean area. Hum Mut 15:381–382
84. Peixoto A, Salgueiro N, Santos C, Varzim G, Rocha P, Soares MJ, Pereira D, Rodrigues H, Bento MJ, Fráguas A, Moura G, Regateiro F et al (2006) BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families. Fam Cancer 5:379–387
85. Van Der Luijt RB, van Zon PH, Jansen RP, van der Sijs-Bos CJ, Wárlám-Rodenhuis CC, Ausems MG (2001) De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer. J Med Genet 38:102–105
86. Neuhausen SL, Godwin AK, Gershoni-Baruch R, Schubert E, Garber J, Stoppa-Lyonnet D, Olah E, Csokay B, Serova O, Lalloo F, Osorio A, Stratton M et al (1998) Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. Am J Hum Genet 62:1381–1388
87. Neuhausen SL, Mazoyer S, Friedman L, Stratton M, Offit K, Caligo A, Tomlinson G, Cannon-Albright L, Bishop T, Kelsell D, Solomon E, Weber B et al (1996) Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet 58:271–280
88. Robson ME, Bradbury AR, Arun B, Domchek SM, Ford JM, Hampel HL, Lipkin SM, Syngal S, Wollins DS, Lindor NM (2015) American Society of Clinical Oncology Policy Statement Update: genetic and genomic testing for cancer susceptibility. J Clin Oncol JCO.2015.63.0996
89. Yurgelun MB, Hiller E, Garber JE (2015) Population-Wide Screening for Germline BRCA1 and BRCA2 Mutations: too much of a good thing? J Clin Oncol 33:3092–3095
90. Levy DE, Byfield SD, Comstock CB, Garber JE, Syngal S, Crown WH, Shields AE (2011) Underutilization of BRCA1/2 testing to guide breast cancer treatment: black and hispanic women particularly at risk. Genet Med 13:349–355
91. Wideroff L, Vadaparampil ST, Breen N, Croyle RT, Freedman AN (2003) Awareness of genetic testing for increased cancer risk in the year 2000 National Health Interview Survey. Community Genet 6:147–156
92. Vadaparampil ST, Wideroff L, Breen N, Trapido E (2006) The impact of acculturation on awareness of genetic testing for increased cancer risk among Hispanics in the year 2000 National Health Interview Survey. Cancer Epidemiol Biomarkers Prev 15:618–623
93. Vadaparampil ST, Quinn GP, Dutil J, Puig M, Malo TL, McIntyre J, Perales R, August EM, Closser Z (2011) A pilot study of knowledge and interest of genetic counseling and testing for hereditary breast and ovarian cancer syndrome among Puerto Rican women. J Commun Genet 2:211–221
94. Kinney AY, Gammon A, Coxworth J, Simonsen SE, Arce-Laretta M (2010) Exploring attitudes, beliefs, and communication preferences of Latino community members regarding BRCA1/2 mutation testing and preventive strategies. Genet Med 12:105–115
95. Kinney AY, Butler KM, Schwartz MD, Mandelblatt JS, Boucher KM, Pappas LM, Gammon A, Kohlmann W, Edwards SL, Stroup AM, Buys SS, Flores KG et al (2014) Expanding access to BRCA1/2 genetic counseling with telephone delivery: a cluster randomized trial. J Natl Cancer Inst 106:dju328
96. Shannon P, Markiel A, Ozier O, Baliga NS, Wang JT, Ramage D, Amin N, Schwikowski B, Ideker T (2003) Cytoscape: a software environment for integrated models of biomolecular interaction networks. Genome Res 13:2498–2504