Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

English version České info

Invasive lobular breast cancer (ILC) accounts for 10–15% of invasive breast cancer and is generally ER positive (ER+). To date, none of the genome-wide association studies that have identified loci that predispose to breast cancer in general or to ER+ or ER-negative breast cancer have focused on lobular breast cancer. In this lobular breast cancer study we identified a new variant that appears to be specific to this morphological subtype. We also ascertained which of the known variants predisposes specifically to lobular breast cancer and show for the first time that some of these loci are also associated with lobular carcinoma in situ, a non-obligate precursor of breast cancer and also a risk factor for contralateral breast cancer. Our study shows that the genetic pathways of invasive lobular cancer and ER+ ductal carcinoma mostly overlap, but there are important differences that are likely to provide insights into the biology of lobular breast tumors.

Vyšlo v časopise: Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast. PLoS Genet 10(4): e32767. doi:10.1371/journal.pgen.1004285
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1004285

Souhrn

Zdroje

1. YoderBJ, WilkinsonEJ, MassollNA (2007) Molecular and morphologic distinctions between infiltrating ductal and lobular carcinoma of the breast. Breast J 13 (2) 172–79.

2. ReevesGK, BeralV, GreenJ, GathaniT (2006) BullD (2006) Hormonal therapy for menopause and breast-cancer risk by histological type: a cohort study and meta-analysis. Lancet Oncol 7: 910–918.

3. KotsopoulosJ, ChenWY, GatesMA, TworogerSS, HankinsonSE, et al. (2010) Risk factors for ductal and lobular breast cancer: results from the nurses' health study. Breast Cancer Res 12: R106.

4. PestalozziBC, ZahriehD, MallonE, GustersonBA, PriceKN, et al. (2008) Distinct clinical and prognostic features of infiltrating lobular carcinoma of the breast: combined results of 15 International Breast Cancer Study Group clinical trials. J Clin Oncol 26 (18) 3006–3014.

5. CristofanilliM, Gonzalez-AnguloA, SneigeN, KauSW, BroglioK, et al. (2005) Invasive lobular carcinoma classic type: response to primary chemotherapy and survival outcomes. J Clin Oncol 1;23 (1) 41–48.

6. Tubiana-HulinM, StevensD, LasryS, GuinebretièreJM, BouitaL, et al. (2006) Response to neoadjuvant chemotherapy in lobular and ductal breast carcinomas:. Ann Oncol 17 (8) 1228–1233.

7. HwangES, NyanteSJ, Yi ChenY, MooreD, DeVriesS, et al. (2004) Clonality of lobular carcinoma in situ and synchronous invasive lobular carcinoma. Cancer 100 (12) 2562–2572.

8. ChubaPJ, HamreMR, YapJ, SeversonRK, LucasD, et al. (2005) Bilateral risk for subsequent breast cancer after lobular carcinoma-in-situ: analysis of surveillance, epidemiology, and end results data. J Clin Oncol 23 (24) 5534–5541.

9. FisherER, LandSR, FisherB, MamounasE, GilarskiL, et al. (2004) Pathologic findings from the NSABBP: twelve-year observations concerning lobular carcinoma in situ. Cancer 15;100 (2) 238–244.

10. SassonAR, FowbleB, HanlonAL, TorosianMH, FreedmanG, et al. (2001) Lobular carcinoma in situ increases the risk of local recurrence in selected patients with stages I and II breast carcinoma treated with conservative surgery and radiation. Cancer 91: 1862–1869.

11. EastonDF, PooleyKA, DunningAM, PharoahPD, ThompsonD, et al. (2007) Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447: 1087–1093.

12. HunterDJ, KraftP, JacobsKB, CoxDG, YeagerM, et al. (2007) A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 39: 870–874.

13. StaceySN, ManolescuA, SulemP, RafnarT, GudmundssonJ, et al. (2007) Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer. Nat Genet 39: 865–869 (2007).

14. StaceySN, ManolescuA, SulemP, ThorlaciusS, GudjonssonSA, et al. (2008) Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer. Nat Genet 40: 703–706.

15. AhmedS, ThomasG, GhoussainiM, HealeyCS, HumphreysMK, et al. (2009) Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet 41: 585–590.

16. ZhengW, LongJ, GaoYT, LiC, ZhengY, XiangYB, et al. (2009) Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet 41: 324–328.

17. ThomasG, JacobsKB, KraftP, YeagerM, WacholderS, et al. (2009) A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet 41: 579–584.

18. TurnbullC, AhmedS, MorrisonJ, PernetD, RenwickA, et al. (2010) Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet 42: 504–507.

19. AntoniouAC, WangX, FredericksenZS, McGuffogL, TarrellR, et al. (2010) A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population. Nat Genet 42: 885–892.

20. FletcherO, JohnsonN, OrrN, HoskingFJ, GibsonLJ, et al. (2011) Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. J Natl Cancer Inst 103: 425–435.

21. HaimanCA, ChenGK, VachonCM, CanzianF, DunningA, et al. (2011) A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor–negative breast cancer. Nat Genet 43: 1210–1214.

22. GhoussainiM, FletcherO, MichailidouK, TurnbullC, SchmidtMK, et al. (2012) Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet 44: 312–318.

23. SiddiqA, CouchFJ, ChenGK, LindströmS, EcclesD, et al. (2012) A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet 21: 5373–5384.

24. MichailidouK, HallP, Gonzalez-NeiraA, GhoussainiM, DennisJ, et al. (2013) Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 45: 353–361.

25. Garcia-ClosasM, CouchFJ, LindstromS, MichailidouK, SchmidtMK, et al. (2013) Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet 45 (4) 392–398.

26. FigueroaJD, Garcia-ClosasM, HumphreysM, PlatteR, HopperJL, et al. (2011) Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium. Hum Mol Genet 20 (23) 4693–706.

27. Cancer Genome Atlas Network (2012) Comprehensive molecular portraits of human breast tumours. Nature 490 (7418) 61–70.

28. OsawaT, MuramatsuM, WangF, TsuchidaR, KodamaT, et al. (2011) Increased expression of histone demethylase JHDM1D under nutrient starvation suppresses tumor growth via down-regulating angiogenesis. PNAS 108 (51) 20725–20729.

29. IbrahimSA, YipGW, StockC, PanJW, NeubauerC, et al. (2012) Targeting of syndecan-1 by microRNA miR-10b promotes breast cancer cell motility and invasiveness via a Rho-GTPase- and E-cadherin-dependent mechanism. Int J Cancer 131 (6) E884–896.

30. PharoahPD, GuilfordP, CaldasC (2001) International Gastric Cancer Linkage Consortium (2001) Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 121 (6) 1348–53.

31. XieZM, LiLS, LaquetC, Penault-LlorcaF, UhrhammerN, et al. (2011) Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer. Cancer 117 (14) 3112–3117.

32. WeigeltB, HorlingsHM, KreikeB, HayesMM, HauptmannM, et al. (2008) Refinement of breast cancer classification by molecular characterization of histological special types. J Pathol 216 (2) 141–150.

33. MilneRL, GoodeEL, García-ClosasM, CouchFJ, SeveriG, et al. (2011) Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer. Cancer Epidemiol Biomarkers Prev 10: 2222–2231.

34. PharoahPD, TsaiYY, RamusSJ, PhelanCM, GoodeEL, et al. (2013) GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet 45: 362–370.

35. DobbinsSE, BroderickP, MelinB, FeychtingM, JohansenC, et al. (2011) Common variation at 10p12.31 near MLLT10 influences meningioma risk. Nat Genet 43 (9) 825–7.

36. Curtis RE, Benjamin ER, Hankey BF, Hoover RN. New Malignancies Following Breast Cancer. Seer Cancer Registry. Available: http://www.seer.cancer.gov/publications/

37. CusterBS, KoepsellTD, MuellerBA (2002) The association between breast carcinoma and meningioma in women. Cancer 94 (6) 1626–1635.

38. SwannR, PerkinsKA, VelentzisLS, CiriaC, DuttonSJ, et al. (2013) The DietCompLyf study: A prospective cohort study of breast cancer survival and phytoestrogen consumption. Maturitas 3: 232–240.

39. WillerCJ, LiY, AbecasisGR (2010) METAL: fast and efficient meta-analysis of genome wide association scans. Bioinformatics 26: 2190–2191.