Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer

Journal of Clinical Oncology

Volumn 34, Issue 13, 2016, Pages 1460-1468

  Tung, Nadine ^a,c   Lin, Nancy U ^b,c   Kidd, John ^d   Allen, Brian A ^d   Singh, Nanda ^d   Wenstrup, Richard J ^d   Hartman, Anne Renee ^d   Winer, Eric P ^b,c   Garber, Judy E ^b,c  

^a BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d Utah   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN; BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; BRCA1 INTERACTING PROTEIN C TERMINAL HELICASE 1; BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; CYCLIN DEPENDENT KINASE 4; CYCLIN DEPENDENT KINASE INHIBITOR 2A; EPIDERMAL GROWTH FACTOR RECEPTOR 2; EPITHELIAL CELL ADHESION MOLECULE; ESTROGEN RECEPTOR; NIBRIN; PARTNER AND LOCALIZER OF BRCA2; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROGESTERONE RECEPTOR; PROTEIN; PROTEIN KINASE LKB1; PROTEIN MLH1; PROTEIN MSH6; PROTEIN P53; RAD51 PARALOG C; RAD51 PARALOG D; SMAD4 PROTEIN; UNCLASSIFIED DRUG; UVOMORULIN;

ADULT; AFRICAN AMERICAN; AGED; ARTICLE; ASIAN; BREAST CANCER; CANCER STAGING; CANCER SUSCEPTIBILITY; COMPARATIVE GENOMIC HYBRIDIZATION; FAMILY HISTORY; FEMALE; GENE SEQUENCE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GERMLINE MUTATION; HISPANIC; HUMAN; MAJOR CLINICAL STUDY; OVARY CANCER; PRIORITY JOURNAL; AGE; BREAST TUMOR; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; JEW; MIDDLE AGED; OVARY TUMOR; PATHOLOGY; PREDICTIVE VALUE; PREVALENCE; PROSPECTIVE STUDY; RETROSPECTIVE STUDY; RISK FACTOR; TRIPLE NEGATIVE BREAST CANCER; TUMOR SUPPRESSOR GENE; VERY ELDERLY;

ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, NEOPLASTIC; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERM-LINE MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; JEWS; MIDDLE AGED; NEOPLASM STAGING; OVARIAN NEOPLASMS; PREDICTIVE VALUE OF TESTS; PREVALENCE; PROSPECTIVE STUDIES; RETROSPECTIVE STUDIES; RISK FACTORS; TRIPLE NEGATIVE BREAST NEOPLASMS;

EID: 84965051096     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2015.65.0747     Document Type: Article

References (53)

1. Risch HA, McLaughlin JR, Cole D.E., et al: Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: A kin-cohort study in Ontario, Canada. J Natl Cancer Inst 98:1694-1706, 2006
2. Begg CB, Haile RW, Borg A, et al: Variation of breast cancer risk among BRCA1/2 carriers. JAMA 299:194-201, 2008
3. Chen S, Parmigiani G: Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25:1329-1333, 2007
4. Brose MS, Rebbeck TR, Calzone K.A., et al: Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 94:1365-1372, 2002
5. van der Kolk DM, de Bock GH, Leegte BK, et al: Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: High cancer incidence at older age. Breast Cancer Res Treat 124:643-651, 2010
6. Domchek SM, Friebel TM, Singer C.F., et al: Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304:967-975, 2010
7. Finch AP, Lubinski J, Møller P, et al: Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol 32:1547-1553, 2014
8. Antoniou AC, Casadei S, Heikkinen T., et al: Breast-cancer risk in families with mutations in PALB2. N Engl J Med 371:497-506, 2014
9. Ramus SJ, Song H, Dicks E., et al: Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer. J Natl Cancer Inst 107:pii: djv214, 2015
10. Rafnar T, Gudbjartsson DF, Sulem P, et al: Mutations in BRIP1 confer high riskofovarian cancer. Nat Genet 43:1104-1107, 2011
11. Loveday C, Turnbull C, Ruark E., et al: Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet 44:475-476, 2012; author reply 476
12. Song H, Dicks E, Ramus S.J., et al: Contribution of germline mutations in the RAD51B, RAD51C, and RAD51D genes to ovarian cancer in the population. J Clin Oncol 33:2901-2907, 2015
13. Pelttari LM, Heikkinen T, Thompson D., et al: RAD51C is a susceptibility gene for ovarian cancer. Hum Mol Genet 20:3278-3288, 2011
14. Meindl A, Hellebrand H, Wiek C., et al: Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 42:410-414, 2010
15. Loveday C, Turnbull C, Ramsay E., et al: Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet 43:879-882, 2011
16. Churpek JE, Walsh T, Zheng Y., et al: Inherited predisposition to breast cancer among African American women. Breast Cancer Res Treat 149: 31-39, 2015
17. Couch FJ, Hart SN, Sharma P, et al: Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. J Clin Oncol 33:304-311, 2015
18. Kurian AW, Hare EE, Mills M.A., et al: Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol 32: 2001-2009, 2014
19. Tung N, Battelli C, Allen B., et al: Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer 121:25-33, 2015
20. Castéra L., Krieger S, Rousselin A., et al: Next generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Eur J Hum Genet 22:1305-1313, 2014
21. Desmond A, Kurian AW, Gabree M, et al: Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment. JAMA Oncol 1:943-951, 2015
22. National Comprehensive Cancer Network: Clinical practice guidelines in oncology. http://www.nccn.org/professionals/physician-gls/f-guidelines.asp
23. Khatcheressian JL, Wolff AC, Smith T.J., et al: American Society of Clinical Oncology 2006 update of the breast cancer follow-up and management guidelines in the adjuvant setting. J Clin Oncol 24: 5091-5097, 2006
24. Judkins T, Leclair B, Bowles K., et al: Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk. BMC Cancer 15:215, 2015
25. Richards S, Aziz N, Bale S., et al: Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17: 405-424, 2015
26. Pruss D, Morris B, Hughes E., et al: Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. Breast Cancer Res Treat 147:119-132, 2014
27. Eggington JM, Bowles KR, Moyes K, et al: A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes. Clin Genet 86:229-237, 2014
28. Cancer Genome Atlas Network: Comprehensive molecular portraits of human breast tumours. Nature 490:61-70, 2012
29. ∗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 30:4308-4316, 2012
30. Maxwell KN, Wubbenhorst B, D'Andrea K, et al: Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Genet Med 17:630-638, 2015
31. Tischkowitz M, Capanu M, Sabbaghian N., et al: Rare germline mutations in PALB2 and breast cancer risk: A population-based study. Hum Mutat 33:674-680, 2012
32. Cybulski C, Kluźniak W, Huzarski T., et al: Clinical outcomes in women with breast cancer and a PALB2 mutation: A prospective cohort analysis. Lancet Oncol 16:638-644, 2015
33. Kriege M, Hollestelle A, Jager A., et al: Survival and contralateral breast cancer in CHEK2 1100delC breast cancer patients: Impact of adjuvant chemotherapy. Br J Cancer 111:1004-1013, 2014
34. Sopik V, Akbari MR, Narod SA: Genetic testing for RAD51C mutations: In the clinic and community. Clin Genet 88:303-312, 2015
35. Easton DF, Pharoah PD, Antoniou A.C., et al: Gene-panel sequencing and the prediction of breast cancer risk. N Engl J Med 372:2243-2257, 2015
36. Tutt A, Robson M, Garber J.E., et al: Oral poly (ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: A proof-of-concept trial. Lancet 376: 235-244, 2010
37. Gelmon KA, Hirte HW, Robidoux A, et al: Can we define tumors that will respond to PARP inhibitors? A phase II correlative study of olaparib in advanced serous ovarian cancer and triple-negative breast cancer. J Clin Oncol 28, 2010 (suppl; abstr 3002)
38. Von Minckwitz G., Hahnen E, Fasching P.A., et al: Pathological complete response (pCR) rates after carboplatin-containing neoadjuvant chemotherapy in patients with germline BRCA (gBRCA) mutation and triple-negative breast cancer (TNBC): Results from GeparSixto. J Clin Oncol 32, 2014 (suppl; abstr 1005)
39. Telli ML, Jensen KC, Kurian A.W., et al: PrECOG 0105: Final efficacy results from a phase II study of gemcitabine (G) and carboplatin (C) plus iniparib (BSI-201) as neoadjuvant therapy for triple negative (TN) and BRCA1/2 mutation-associated breast cancer. J Clin Oncol 31, 2013 (suppl; abstr 1003)
40. Atchley DP, Albarracin CT, Lopez A, et al: Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer. J Clin Oncol 26:4282-4288, 2008
41. Bane AL, Beck JC, Bleiweiss I, et al: 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, 2007
42. Foulkes WD, Stefansson IM, Chappuis P.O., et al: Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer. J Natl Cancer Inst 95:1482-1485, 2003
43. Sorlie T, Tibshirani R, Parker J., et al: Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci USA 100:8418-8423, 2003
44. Frank TS, Deffenbaugh AM, Reid J.E., et al: Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals. J Clin Oncol 20:1480-1490, 2002
45. Stat Fact Sheets SEER: Breast Cancer. http://seer.cancer.gov/statfacts/html/breast.html
46. Ratajska M, Antoszewska E, Piskorz A., et al: Cancer predisposing BARD1 mutations in breast ovarian cancer families. Breast Cancer Res Treat 131:89-97, 2012
47. De Brakeleer S., De Grève J, Loris R, et al: Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families. Hum Mutat 31:E1175-E1185, 2010
48. Seal S, Thompson D, Renwick A., et al: Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 38:1239-1241, 2006
49. Pharoah PD, Guilford P, Caldas C: Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 121: 1348-1353, 2001
50. Pilarsky C, Wenzig M, Specht T., et al: Identification and validation of commonly overexpressed genes in solid tumors by comparison of microarray data. Neoplasia 6:744-750, 2004
51. Tan MH, Mester JL, Ngeow J, et al: Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 18:400-407, 2012
52. Hearle N, Schumacher V, Menko F.H., et al: Frequency and spectrum of cancers in the Peutz Jeghers syndrome. Clin Cancer Res 12:3209-3215, 2006
53. Lim W, Olschwang S, Keller J.J., et al: Relative frequency and morphology of cancers in STK11 mutation carriers. Gastroenterology 126:1788-1794, 2004