Opportunities and challenges of next-generation DNA sequencing for breast units

British Journal of Surgery

Volumn 101, Issue 8, 2014, Pages 889-898

  Pilgrim, S M ^a   Pain, S J ^c   Tischkowitz, M D ^b  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADJUVANT THERAPY; BREAST TUMOR; DNA SEQUENCE; EARLY DIAGNOSIS; FEMALE; GENETIC SCREENING; GENETICS; HUMAN; MASTECTOMY; METHODOLOGY; MUTATION; PHYSIOLOGY; REVIEW; RISK ASSESSMENT; RISK FACTOR; TUMOR SUPPRESSOR GENE;

BREAST NEOPLASMS; EARLY DETECTION OF CANCER; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC TESTING; HUMANS; MASTECTOMY; MUTATION; NEOADJUVANT THERAPY; RISK ASSESSMENT; RISK FACTORS; SEQUENCE ANALYSIS, DNA;

EID: 84902251536     PISSN: 00071323     EISSN: 13652168     Source Type: Journal    
DOI: 10.1002/bjs.9458     Document Type: Review

References (45)

1. Foulkes WD,. Inherited susceptibility to common cancers. N Engl J Med 2008; 359: 2143-2153.
2. Apostolou P, Fostira F,. Hereditary breast cancer: the era of new susceptibility genes. Biomed Res Int 2013; 2013: 747318.
3. 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: 1239-1241.
4. Maxwell KN, Nathanson KL,. Common breast cancer risk variants in the post-COGS era: a comprehensive review. Breast Cancer Res 2013; 15: 212.
5. Narod SA, Foulkes WD,. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004; 4: 665-676.
6. Berns K, Horlings HM, Hennessy BT, Madiredjo M, Hijmans EM, Beelen K, et al. A functional genetic approach identifies the PI3K pathway as a major determinant of trastuzumab resistance in breast cancer. Cancer Cell 2007; 12: 395-402.
7. Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000; 119: 1447-1453.
8. Katajisto P, Vallenius T, Vaahtomeri K, Ekman N, Udd L, Tiainen M, et al. The LKB1 tumor suppressor kinase in human disease. Biochim Biophys Acta 2007; 1775: 63-75.
9. Bocca C, Bozzo F, Francica S, Colombatto S, Miglietta A,. Involvement of PPAR gamma and E-cadherin/beta-catenin pathway in the antiproliferative effect of conjugated linoleic acid in MCF-7 cells. Int J Cancer 2007; 121: 248-256.
10. Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER III, Hurov KE, Luo J, et al. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science 2007; 316: 1160-1166.
11. Moore GE,. Cramming more components onto integrated circuits. Electronics 1965; 38: 114-117.
12. Kesselheim AS, Cook-Deegan RM, Winickoff DE, Mello MM,. Gene patenting-the Supreme Court finally speaks. N Engl J Med 2013; 369: 869-875.
13. Antoniou AC, Hardy R, Walker L, Evans DG, Shenton A, Eeles R, et al. Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. J Med Genet 2008; 45: 425-431.
14. Evans DG, Lalloo F, Wallace A, Rahman N,. Update on the Manchester scoring system for BRCA1 and BRCA2 testing. J Med Genet 2005; 42: e39.
15. Peto J, Collins N, Barfoot R, Seal S, Warren W, Rahman N, et al. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 1999; 91: 943-949.
16. Robertson L, Hanson H, Seal S, Warren-Perry M, Hughes D, Howell I, et al. TNT Trial TMG; BCSC (UK). BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years. Br J Cancer 2012; 106: 1234-1248.
17. Foulkes WD, Shuen AY,. In brief: BRCA1 and BRCA2. J Pathol 2013; 230: 347-349.
18. King MC, Marks JH, Mandell JB,; New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003; 302: 643-646.
19. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. 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 2003; 72: 1117-1130.
20. Vos JR, de Bock GH, Teixeira N, van der Kolk DM, Jansen L, Mourits MJ, et al. Proven non-carriers in BRCA families have an earlier age of onset of breast cancer. Eur J Cancer 2013; 49: 2101-2106.
21. Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, et al. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet 2013; 9: e1003212.
22. Gaudet MM, Kuchenbaecker KB, Vijai J, Klein RJ, Kirchhoff T, McGuffog L, et al. Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet 2013; 9: e1003173.
23. Brohet RM, Goldgar DE, Easton DF, Antoniou AC, Andrieu N, Chang-Claude J, et al. Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group. J Clin Oncol 2007; 25: 3831-3836.
24. Breast Cancer Linkage Consortium. Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Lancet 1997; 349: 1505-1510.
25. Brekelmans CT, Tilanus-Linthorst MM, Seynaeve C, vd Ouweland A, Menke-Pluymers MB, Bartels CC, et al. Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, BRCA1- and non-BRCA1/2 families as compared to sporadic breast cancer cases. Eur J Cancer 2007; 43: 867-876.
26. Rennert G, Bisland-Naggan S, Barnett-Griness O, Bar-Joseph N, Zhang S, Rennert HS, et al. Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations. N Engl J Med 2007; 357: 115-123.
27. Pierce LJ, Levin AM, Rebbeck TR, Ben-David MA, Friedman E, Solin LJ, et al. Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer. J Clin Oncol 2006; 24: 2437-2443.
28. Fowble B, Hanlon A, Freedman G, Nicolaou N, Anderson P,. Second cancers after conservative surgery and radiation for stages I-II breast cancer: identifying a subset of women at increased risk. Int J Radiat Oncol Biol Phys 2001; 51: 679-690.
29. Metcalfe K, Lynch HT, Ghadirian P, Tung N, Olivotto I, Warner E, et al. Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2004; 22: 2328-2335.
30. McDonnell SK, Schaid DJ, Myers JL, Grant CS, Donohue JH, Woods JE, et al. Efficacy of contralateral prophylactic mastectomy in women with a personal and family history of breast cancer. J Clin Oncol 2001; 19: 3938-3943.
31. Metcalfe KA, Lubinski J, Ghadirian P, Lynch H, Kim-Sing C, Friedman E, et al.; Hereditary Breast Cancer Clinical Study Group. Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group. J Clin Oncol 2008; 26: 1093-1097.
32. Hartmann LC, Schaid DJ, Woods JE, Crotty TP, Myers JL, Arnold PG, et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med 1999; 340: 77-84.
33. Gail MH, Brinton LA, Byar DP, Corle DK, Green SB, Schairer C, et al. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst 1989; 81: 1879-1886.
34. Hartmann LC, Sellers TA, Schaid DJ, Frank TS, Soderberg CL, Sitta DL, et al. Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst 2001; 93: 1633-1637.
35. Meijers-Heijboer H, van Geel B, van Putten WL, Henzen-Logmans SC, Seynaeve C, Menke-Pluymers MB, et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2001; 345: 159-164.
36. Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, van't Veer L, Garber JE, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 2004; 22: 1055-1062.
37. Kaas R, Verhoef S, Wesseling J, Rookus MA, Oldenburg HS, Peeters MJ, et al. Prophylactic mastectomy in BRCA1 and BRCA2 mutation carriers: very low risk for subsequent breast cancer. Ann Surg 2010; 251: 488-492.
38. Rebbeck TR, Kauff ND, Domchek SM,. Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst 2009; 101: 80-87.
39. Kauff ND, Domchek SM, Friebel TM, Robson ME, Lee J, Garber JE, et al. Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol 2008; 26: 1331-1337.
40. Tassone P, Tagliaferri P, Perricelli A, Blotta S, Quaresima B, Martelli ML, et al. BRCA1 expression modulates chemosensitivity of BRCA1-defective HCC1937 human breast cancer cells. Br J Cancer 2003; 88: 1285-1291.
41. Byrski T, Gronwald J, Huzarski T, Grzybowska E, Budryk M, Stawicka M, et al. Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. J Clin Oncol 2010; 28: 375-379.
42. Byrski T, Dent R, Blecharz P, Foszczynska-Kloda M, Gronwald J, Huzarski T, et al. Results of a phase II open-label, non-randomized trial of cisplatin chemotherapy in patients with BRCA1-positive metastatic breast cancer. Breast Cancer Res 2012; 14: R110.
43. Rottenberg S, Jaspers JE, Kersbergen A, van der Burg E, Nygren AO, Zander SA, et al. High sensitivity of BRCA1-deficient mammary tumors to the PARP inhibitor AZD2281 alone and in combination with platinum drugs. Proc Natl Acad Sci U S A 2008; 105: 17 079-17 084.
44. Domchek SM, Mitchell G, Lindeman GJ, Tung NM, Balmana J, Isakoff SJ, et al. Challenges to the development of new agents for molecularly defined patient subsets: lessons from BRCA1/2-associated breast cancer. J Clin Oncol 2011; 29: 4224-4226.
45. Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL,. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 2013; 45: 353-361.