Familial relative risks for breast cancer by pathological subtype: A population-based cohort study

Breast Cancer Research

Volumn 12, Issue 1, 2010, Pages

  Mavaddat, Nasim ^a   Pharoah, Paul D ^a   Blows, Fiona ^a   Driver, Kristy E ^a   Provenzano, Elena ^b   Thompson, Deborah ^a   MacInnis, Robert J ^a,c   Shah, Mitul ^a   Easton, Douglas F ^a   Antoniou, Antonis C ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR; PROGESTERONE RECEPTOR;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; COHORT ANALYSIS; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; POPULATION BASED CASE CONTROL STUDY; RISK FACTOR; BREAST TUMOR; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; RISK; TUMOR SUPPRESSOR GENE;

ADULT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; COHORT STUDIES; FEMALE; GENES, BRCA1; GENES, BRCA2; HUMANS; MIDDLE AGED; MUTATION; RECEPTORS, ESTROGEN; RISK;

EID: 77953912679     PISSN: 14655411     EISSN: 1465542X     Source Type: Journal    
DOI: 10.1186/bcr2476     Document Type: Article

References (62)

1. Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet 2001, 358:1389-1399. 10.1016/S0140-6736(01)06524-2, 11705483.
2. Amundadottir LT, Thorvaldsson S, Gudbjartsson DF, Sulem P, Kristjansson K, Arnason S, Gulcher JR, Bjornsson J, Kong A, Thorsteinsdottir U, Stefansson K. Cancer as a complex phenotype: pattern of cancer distribution within and beyond the nuclear family. PLoS Med 2004, 1:e65. 10.1371/journal.pmed.0010065, 539051, 15630470.
3. Peto J, Mack TM. High constant incidence in twins and other relatives of women with breast cancer. Nat Genet 2000, 26:411-414. 10.1038/82533, 11101836.
4. Anglian Breast Cancer Study Group Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer 2000, 83:1301-1308. 10.1054/bjoc.2000.1407, 2408797, 11044354, Anglian Breast Cancer Study Group.
5. Antoniou AC, Easton DF. Models of genetic susceptibility to breast cancer. Oncogene 2006, 25:5898-5905. 10.1038/sj.onc.1209879, 16998504.
6. Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R, Morrison J, Maranian M, Pooley KA, Luben R, Eccles D, Evans DG, Fletcher O, Johnson N, dos Santos Silva I, Peto J, Stratton MR, Rahman N, Jacobs K, Prentice R, Anderson GL, Rajkovic A, Curb JD, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, et al. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet 2009, 41:585-590. 10.1038/ng.354, 2748125, 19330027.
7. Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, Hankinson SE, Wacholder S, Wang Z, Welch R, Hutchinson A, Wang J, Yu K, Chatterjee N, Orr N, Willett WC, Colditz GA, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Hayes RB, Tucker M, Gerhard DS, Fraumeni JF, Hoover RN, Thomas G, Chanock SJ. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 2007, 39:870-874. 10.1038/ng2075, 17529973.
8. Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R, Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le ML, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen CY, Wu PE, Wang HC, Eccles D, Evans DG, Peto J, Fletcher O, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007, 447:1087-1093. 10.1038/nature05887, 2714974, 17529967.
9. Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, Gudjonsson SA, Masson G, Jakobsdottir M, Thorlacius S, Helgason A, Aben KK, Strobbe LJ, Albers-Akkers MT, Swinkels DW, Henderson BE, Kolonel LN, Le Marchand L, Millastre E, Andres R, Godino J, Garcia-Prats MD, Polo E, Tres A, Mouy M, Saemundsdottir J, Backman VM, Gudmundsson L, Kristjansson K, Bergthorsson JT, Kostic J, et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2007, 39:865-869. 10.1038/ng2064, 17529974.
10. Stacey SN, Manolescu A, Sulem P, Thorlacius S, Gudjonsson SA, Jonsson GF, Jakobsdottir M, Bergthorsson JT, Gudmundsson J, Aben KK, Strobbe LJ, Swinkels DW, van Engelenburg KC, Henderson BE, Kolonel LN, Le Marchand L, Millastre E, Andres R, Saez B, Lambea J, Godino J, Polo E, Tres A, Picelli S, Rantala J, Margolin S, Jonsson T, Sigurdsson H, Jonsdottir T, Hrafnkelsson J, et al. Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2008, 40:703-706. 10.1038/ng.131, 18438407.
11. Thomas G, Jacobs KB, Kraft P, Yeager M, Wacholder S, Cox DG, Hankinson SE, Hutchinson A, Wang Z, Yu K, Chatterjee N, Garcia-Closas M, Gonzalez-Bosquet J, Prokunina-Olsson L, Orr N, Willett WC, Colditz GA, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Diver R, Prentice R, Jackson R, Kooperberg C, Chlebowski R, Lissowska J, et al. A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet 2009, 41:579-584. 10.1038/ng.353, 19330030.
12. Zheng W, Long J, Gao YT, Li C, Zheng Y, Xiang YB, Wen W, Levy S, Deming SL, Haines JL, Gu K, Fair AM, Cai Q, Lu W, Shu XO. Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet 2009, 41:324-328. 10.1038/ng.318, 2754845, 19219042.
13. Garcia-Closas M, Chanock S. Genetic susceptibility loci for breast cancer by estrogen receptor status. Clin Cancer Res 2008, 14:8000-8009. 10.1158/1078-0432.CCR-08-0975, 2668137, 19088016.
14. Garcia-Closas M, Hall P, Nevanlinna H, Pooley K, Morrison J, Richesson DA, Bojesen SE, Nordestgaard BG, Axelsson CK, Arias JI, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Zamora P, Brauch H, Justenhoven C, Hamann U, Ko YD, Bruening T, Haas S, Dork T, Schurmann P, Hillemanns P, Bogdanova N, Bremer M, Karstens JH, Fagerholm R, Aaltonen K, Aittomaki K, et al. Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet 2008, 4:e1000054. 10.1371/journal.pgen.1000054, 2291027, 18437204.
15. Lakhani SR, Vijver MJ, Jacquemier J, Anderson TJ, Osin PP, McGuffog L, Easton DF. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 2002, 20:2310-2318. 10.1200/JCO.2002.09.023, 11981002.
16. Anderson WF, Chatterjee N, Ershler WB, Brawley OW. Estrogen receptor breast cancer phenotypes in the Surveillance, Epidemiology, and End Results database. Breast Cancer Res Treat 2002, 76:27-36. 10.1023/A:1020299707510, 12408373.
17. Bertucci F, Finetti P, Cervera N, Esterni B, Hermitte F, Viens P, Birnbaum D. How basal are triple-negative breast cancers?. Int J Cancer 2008, 123:236-240. 10.1002/ijc.23518, 18398844.
18. Nielsen TO, Hsu FD, Jensen K, Cheang M, Karaca G, Hu Z, Hernandez-Boussard T, Livasy C, Cowan D, Dressler L, Akslen LA, Ragaz J, Gown AM, Gilks CB, Rijn M, Perou CM. Immunohistochemical and clinical characterization of the basal-like subtype of invasive breast carcinoma. Clin Cancer Res 2004, 10:5367-5374. 10.1158/1078-0432.CCR-04-0220, 15328174.
19. Cheang MC, Voduc D, Bajdik C, Leung S, McKinney S, Chia SK, Perou CM, Nielsen TO. Basal-like breast cancer defined by five biomarkers has superior prognostic value than triple-negative phenotype. Clin Cancer Res 2008, 14:1368-1376. 10.1158/1078-0432.CCR-07-1658, 18316557.
20. Haffty BG, Yang Q, Reiss M, Kearney T, Higgins SA, Weidhaas J, Harris L, Hait W, Toppmeyer D. Locoregional relapse and distant metastasis in conservatively managed triple negative early-stage breast cancer. J Clin Oncol 2006, 24:5652-5657. 10.1200/JCO.2006.06.5664, 17116942.
21. Antoniou AC, Pharoah PP, Smith P, Easton DF. The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer 2004, 91:1580-1590. 2409934, 15381934.
22. Antoniou AC, Cunningham AP, Peto J, Evans DG, Lalloo F, Narod SA, Risch HA, Eyfjord JE, Hopper JL, Southey MC, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tryggvadottir L, Syrjakoski K, Kallioniemi OP, Eerola H, Nevanlinna H, Pharoah PD, et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer 2008, 98:1457-1466. 10.1038/sj.bjc.6604305, 2361716, 18349832.
23. Pharoah PD, Lipscombe JM, Redman KL, Day NE, Easton DF, Ponder BA. Familial predisposition to breast cancer in a British population: implications for prevention. Eur J Cancer 2000, 36:773-779. 10.1016/S0959-8049(00)00023-X, 10762751.
24. Doll R, Payne P, Waterhouse AJ. Cancer Incidence in Five Continents. 1966, I. Berlin, Germany: Springer-Verlag.
25. Doll R, Muir CS, Waterhouse AJ. Cancer Incidence in Five Continents. 1970, II. Geneva, Switzerland: UICC.
26. Muir C, Waterhouse JAH, Mack TM, Powell J, Whelan S. Cancer Incidence in Five Continents. 1987, V. Lyon, France: IARC Scientific Publications.
27. Parkin DM, Muir CS, Whelan S, Gao YT, Ferlay J, Powell J. Cancer Incidence in Five Continents. 1992, VI. Lyon, France: IARC Scientific Publications.
28. Parkin DM, Whelan S, Ferlay J, Teppo L, Thomas DB. Cancer Incidence in Five Continents. 2002, VIII. Lyon, France: IARC Scientific Publications.
29. Waterhouse JAH, Muir C, Correa P, Powell J. Cancer Incidence in Five Continents. 1976, III. Lyon, France: IARC Scientific Publications.
30. Waterhouse JAH, Muir C, Shanmugaratnam K, Powell J. Cancer Incidence in Five Continents. 1982, IV. Lyon, France: IARC Scientific Publications.
31. Paul SR, Zaihra T. Interval estimation of risk difference for data sampled from clusters. Stat Med 2008, 27:4207-4220. 10.1002/sim.3289, 18407574.
32. Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MW, Pooley KA, Scollen S, Baynes C, Ponder BA, Chanock S, Lissowska J, Brinton L, Peplonska B, Southey MC, Hopper JL, McCredie MR, Giles GG, Fletcher O, Johnson N, dos Santos Silva I, Gibson L, Bojesen SE, Nordestgaard BG, Axelsson CK, Torres D, Hamann U, Justenhoven C, Brauch H, Chang-Claude J, Kropp S, et al. A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet 2007, 39:352-358. 10.1038/ng1981, 17293864.
33. Colditz GA, Rosner BA, Chen WY, Holmes MD, Hankinson SE. Risk factors for breast cancer according to estrogen and progesterone receptor status. J Natl Cancer Inst 2004, 96:218-228.
34. Cotterchio M, Kreiger N, Theis B, Sloan M, Bahl S. Hormonal factors and the risk of breast cancer according to estrogen- and progesterone-receptor subgroup. Cancer Epidemiol Biomarkers Prev 2003, 12:1053-1060.
35. Hines LM, Risendal B, Slattery ML, Baumgartner KB, Giuliano AR, Byers T. Differences in estrogen receptor subtype according to family history of breast cancer among Hispanic, but not non-Hispanic White women. Cancer Epidemiol Biomarkers Prev 2008, 17:2700-2706. 10.1158/1055-9965.EPI-08-0504, 2606090, 18843012.
36. Huang WY, Newman B, Millikan RC, Schell MJ, Hulka BS, Moorman PG. Hormone-related factors and risk of breast cancer in relation to estrogen receptor and progesterone receptor status. Am J Epidemiol 2000, 151:703-714.
37. Potter JD, Cerhan JR, Sellers TA, McGovern PG, Drinkard C, Kushi LR, Folsom AR. Progesterone and estrogen receptors and mammary neoplasia in the Iowa Women's Health Study: how many kinds of breast cancer are there?. Cancer Epidemiol Biomarkers Prev 1995, 4:319-326.
38. Rosenberg LU, Einarsdottir K, Friman EI, Wedren S, Dickman PW, Hall P, Magnusson C. Risk factors for hormone receptor-defined breast cancer in postmenopausal women. Cancer Epidemiol Biomarkers Prev 2006, 15:2482-2488. 10.1158/1055-9965.EPI-06-0489, 17164374.
39. Rusiecki JA, Holford TR, Zahm SH, Zheng T. Breast cancer risk factors according to joint estrogen receptor and progesterone receptor status. Cancer Detect Prev 2005, 29:419-426. 10.1016/j.cdp.2005.07.004, 16185815.
40. Tutera AM, Sellers TA, Potter JD, Drinkard CR, Wiesner GL, Folsom AR. Association between family history of cancer and breast cancer defined by estrogen and progesterone receptor status. Genet Epidemiol 1996, 13:207-221. 10.1002/(SICI)1098-2272(1996)13:2<207::AID-GEPI6>3.0.CO;2-4, 8722747.
41. Welsh ML, Buist DS, Aiello Bowles EJ, Anderson ML, Elmore JG, Li CI. Population-based estimates of the relation between breast cancer risk, tumor subtype, and family history. Breast Cancer Res Treat 2009, 114:549-558. 10.1007/s10549-008-0026-1, 2692346, 18437558.
42. Yang XR, Pfeiffer RM, Garcia-Closas M, Rimm DL, Lissowska J, Brinton LA, Peplonska B, Hewitt SM, Cartun RW, Mandich D, Sasano H, Evans DB, Sutter TR, Sherman ME. Hormonal markers in breast cancer: coexpression, relationship with pathologic characteristics, and risk factor associations in a population-based study. Cancer Res 2007, 67:10608-10617. 10.1158/0008-5472.CAN-07-2142, 17968031.
43. Yang XR, Sherman ME, Rimm DL, Lissowska J, Brinton LA, Peplonska B, Hewitt SM, Anderson WF, Szeszenia-Dabrowska N, Bardin-Mikolajczak A, Zatonski W, Cartun R, Mandich D, Rymkiewicz G, Ligaj M, Lukaszek S, Kordek R, Garcia-Closas M. Differences in risk factors for breast cancer molecular subtypes in a population-based study. Cancer Epidemiol Biomarkers Prev 2007, 16:439-443. 10.1158/1055-9965.EPI-06-0806, 17372238.
44. Murff HJ, Spigel DR, Syngal S. Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. JAMA 2004, 292:1480-1489. 10.1001/jama.292.12.1480, 15383520.
45. Allred DC, Harvey JM, Berardo M, Clark GM. Prognostic and predictive factors in breast cancer by immunohistochemical analysis. Mod Pathol 1998, 11:155-168.
46. Chlebowski RT, Chen Z, Anderson GL, Rohan T, Aragaki A, Lane D, Dolan NC, Paskett ED, McTiernan A, Hubbell FA, Adams-Campbell LL, Prentice R. Ethnicity and breast cancer: factors influencing differences in incidence and outcome. J Natl Cancer Inst 2005, 97:439-448.
47. Garcia-Closas M, Brinton LA, Lissowska J, Chatterjee N, Peplonska B, Anderson WF, Szeszenia-Dabrowska N, Bardin-Mikolajczak A, Zatonski W, Blair A, Kalaylioglu Z, Rymkiewicz G, Mazepa-Sikora D, Kordek R, Lukaszek S, Sherman ME. Established breast cancer risk factors by clinically important tumour characteristics. Br J Cancer 2006, 95:123-129. 10.1038/sj.bjc.6603207, 2360503, 16755295.
48. Sherman ME, Rimm DL, Yang XR, Chatterjee N, Brinton LA, Lissowska J, Peplonska B, Szeszenia-Dabrowska N, Zatonski W, Cartun R, Mandich D, Rymkiewicz G, Ligaj M, Lukaszek S, Kordek R, Kalaylioglu Z, Harigopal M, Charrette L, Falk RT, Richesson D, Anderson WF, Hewitt SM, Garcia-Closas M. Variation in breast cancer hormone receptor and HER2 levels by etiologic factors: a population-based analysis. Int J Cancer 2007, 121:1079-1085. 10.1002/ijc.22812, 17487843.
49. Macinnis RJ, English DR, Gertig DM, Hopper JL, Giles GG. Body size and composition and risk of postmenopausal breast cancer. Cancer Epidemiol Biomarkers Prev 2004, 13:2117-2125.
50. Easton DF. Familial risks of breast cancer. Breast Cancer Res 2002, 4:179-181. 10.1186/bcr448, 138740, 12223120.
51. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Zelada-Hedman M. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998, 62:676-689. 10.1086/301749, 1376944, 9497246.
52. Kollias J, Pinder SE, Denley HE, Ellis IO, Wencyk P, Bell JA, Elston CW, Blamey RW. Phenotypic similarities in bilateral breast cancer. Breast Cancer Res Treat 2004, 85:255-261. 10.1023/B:BREA.0000025421.00599.b7, 15111764.
53. Intra M, Rotmensz N, Viale G, Mariani L, Bonanni B, Mastropasqua MG, Galimberti V, Gennari R, Veronesi P, Colleoni M, Tousimis E, Galli A, Goldhirsch A, Veronesi U. Clinicopathologic characteristics of 143 patients with synchronous bilateral invasive breast carcinomas treated in a single institution. Cancer 2004, 101:905-912. 10.1002/cncr.20452, 15329896.
54. Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BA. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 2002, 31:33-36. 10.1038/ng853, 11984562.
55. Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, Peto J, Ponder BJ, Easton DF. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 2002, 86:76-83. 10.1038/sj.bjc.6600008, 2746531, 11857015.
56. Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006, 38:873-875. 10.1038/ng1837, 16832357.
57. Meijers-Heijboer H, Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R, Hollestelle A, Houben M, Crepin E, van Veghel-Plandsoen M, Elstrodt F, van Duijn C, Bartels C, Meijers C, Schutte M, McGuffog L, Thompson D, Easton D, Sodha N, Seal S, Barfoot R, Mangion J, Chang-Claude J, Eccles D, Eeles R, Evans DG, Houlston R, Murday V, Narod S, Peretz T, et al. Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002, 31:55-59. 10.1038/ng879, 11967536.
58. Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 2006, 38:1239-1241. 10.1038/ng1902, 17033622.
59. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Easton DF, Stratton MR. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 2007, 39:165-167. 10.1038/ng1959, 17200668.
60. de Bock GH, Mourits MJ, Schutte M, Krol-Warmerdam EM, Seynaeve C, Blom J, Brekelmans CT, Meijers-Heijboer H, van Asperen CJ, Cornelisse CJ, Devilee P, Tollenaar RA, Klijn JG. Association between the CHEK2*1100delC germ line mutation and estrogen receptor status. Int J Gynecol Cancer 2006, 16(Suppl 2):552-555. 10.1111/j.1525-1438.2006.00694.x, 17010071.
61. Heikkinen T, Karkkainen H, Aaltonen K, Milne RL, Heikkila P, Aittomaki K, Blomqvist C, Nevanlinna H. The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res 2009, 15:3214-3222. 10.1158/1078-0432.CCR-08-3128, 19383810.
62. Milne RL, Benitez J, Nevanlinna H, Heikkinen T, Aittomaki K, Blomqvist C, Arias JI, Zamora MP, Burwinkel B, Bartram CR, Meindl A, Schmutzler RK, Cox A, Brock I, Elliott G, Reed MW, Southey MC, Smith L, Spurdle AB, Hopper JL, Couch FJ, Olson JE, Wang X, Fredericksen Z, Schurmann P, Bremer M, Hillemanns P, Dork T, Devilee P, van Asperen CJ, et al. Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst 2009, 101:1012-1018. 10.1093/jnci/djp167, 19567422.