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Herediter ve Ailesel Meme Kanserlerinin Aile Öyküsü ile Klinikopatolojik Özelliklerinin Karşılaştırılması; Tek Merkez Deneyimi

Year 2021, Volume: 11 Issue: 3, 647 - 653, 22.09.2021
https://doi.org/10.31832/smj.934186

Abstract

Amaç: Meme kanseri kadınlarda en sık teşhis edilen kanserdir. Sporadik meme kanserlerinden sonra en sık ailesel ardından herediter meme kanserleri gelir. Çalışmamızda herediter ve ailesel meme kanserlerinin klinikopatolojik özelliklerini kıyaslamayı amaçladık.
Gereç ve Yöntemler: Sakarya Üniversitesi Eğitim ve Araştırma Hastanesinde 2019-2020 yılları arasında tanı konulan meme kanseri olgularında aile hikayesi ve patolojik özellikler göz önünde bulundurularak genetik test yapılan hastaların verileri retrospektif tarandı.
Bulgular: Herediter ve ailesel meme kanserli olgular karşılaştırıldığında herediter meme kanserli hastaların tanıda daha ileri evre oldukları, yüksek Ki-67 indeksine sahip oldukları ve reseptör negatif oldukları saptandı.BRCA1 mutasyonlu olgularda ise BRCA2’ye göre tanıda yüksek histolojik evre, artmış metastatik lenf nodu ve reseptör negatifliği görüldü.
Sonuç: BRCA (Breast Cancer Gene) mutasyonu olan tümörlerin ailesel geçişli meme kanserli hastalara göre daha agresif, BRCA1 mutasyonu olan tümörler ise BRCA2 mutasyonu olan tümörlere göre daha agresif tümörler olduğunu saptadık. Kuvvetli aile öyküsü olan veya herediter meme kanseri şüpheli olgularda erken dönemde genetik danışmanlık desteği alınmalıdır. Bu mutasyonların saptanması hastaların cerrahi ve medikal tedavisinde farklılıklar sebep olacaktır.

Project Number

E-71522473-050.01.04-605836

References

  • 1) Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries [published correction appears in CA Cancer J Clin. 2020 Jul;70(4):313]. CA Cancer J Clin. 2018;68(6):394-424. doi:10.3322/caac.21492
  • 2) Claus EB, Schildkraut J, Iversen ES Jr, Berry D, Parmigiani G. Effect of BRCA1 and BRCA2 on the association between breast cancer risk and family history. J Natl Cancer Inst. 1998;90(23):1824-1829. doi:10.1093/jnci/90.23.1824
  • 3) Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer. 2004;4(9):665-676. doi:10.1038/nrc1431
  • 4) Venkitaraman AR. Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell. 2002;108(2):171-182. doi:10.1016/s0092-8674(02)00615-3
  • 5) Nanda R, Schumm LP, Cummings S, et al. Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. JAMA. 2005;294(15):1925-1933. doi:10.1001/jama.294.15.1925
  • 6) Comen E, Davids M, Kirchhoff T, Hudis C, Offit K, Robson M. Relative contributions of BRCA1 and BRCA2 mutations to "triple-negative" breast cancer in Ashkenazi Women. Breast Cancer Res Treat. 2011;129(1):185-190. doi:10.1007/s10549-011-1433-2
  • 7) Claus EB, Schildkraut JM, Thompson WD, Risch NJ. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996;77(11):2318-2324. doi:10.1002/(SICI)1097-0142(19960601)77:11<2318::AID-CNCR21>3.0.CO;2-Z
  • 8) Zweemer RP, Verheijen RH, Menko FH, et al. Differences between hereditary and sporadic ovarian cancer. Eur J Obstet Gynecol Reprod Biol. 1999;82(2):151-153. doi:10.1016/s0301-2115(98)00218-8
  • 9) Cao A, Huang L, Shao Z. The Preventive Intervention of Hereditary Breast Cancer. Adv Exp Med Biol. 2017;1026:41-57. doi:10.1007/978-981-10-6020-5_3
  • 10) Lakhani SR, Van De Vijver MJ, Jacquemier J, et al. 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(9):2310-2318.
  • 11) Chappuis PO, Nethercot V, Foulkes WD. Clinico-pathological characteristics of BRCA1- and BRCA2-related breast cancer. Semin Surg Oncol. 2000;18(4):287-295. doi:10.1002/(sici)1098-2388(200006)18:4<287::aid-ssu3>3.0.co;2-5
  • 12) Armes JE, Venter DJ. The pathology of inherited breast cancer. Pathology. 2002;34(4):309-314. doi:10.1080/00313020220147113
  • 13) Honrado E, Benítez J, Palacios J. The molecular pathology of hereditary breast cancer: genetic testing and therapeutic implications. Mod Pathol. 2005;18(10):1305-1320. doi:10.1038/modpathol.3800453
  • 14) Daly MB, Pilarski R, Berry M, et al. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017. J Natl Compr Canc Netw. 2017;15(1):9-20. doi:10.6004/jnccn.2017.0003
  • 15) Watson M, Foster C, Eeles R, et al. Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort. Br J Cancer. 2004;91(10):1787-1794. doi:10.1038/sj.bjc.6602207
  • 16) Botkin JR, Smith KR, Croyle RT, et al. Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing. Am J Med Genet A. 2003;118A(3):201-209. doi:10.1002/ajmg.a.10102
  • 17) Evans D, Lalloo F, Shenton A, Boggis C, Howell A. Uptake of screening and prevention in women at very high risk of breast cancer. Lancet. 2001;358(9285):889-890. doi:10.1016/S0140-6736(01)06039-1
  • 18) Haffty BG, Harrold E, Khan AJ, et al. Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status. Lancet. 2002;359(9316):1471-1477. doi:10.1016/S0140-6736(02)08434-9
  • 19) Chang J, Elledge RM. Clinical management of women with genomic BRCA1 and BRCA2 mutations. Breast Cancer Res Treat. 2001;69(2):101-113. doi:10.1023/a:1012203917104
  • 20) Foulkes WD, Chappuis PO, Wong N, et al. Primary node negative breast cancer in BRCA1 mutation carriers has a poor outcome. Ann Oncol. 2000;11(3):307-313. doi:10.1023/a:1008340723974
  • 21) Van der Groep P, Bouter A, van der Zanden R, et al. Distinction between hereditary and sporadic breast cancer on the basis of clinicopathological data. J Clin Pathol. 2006;59(6):611-617. doi:10.1136/jcp.2005.032151
  • 22) Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D. Effect of BRCA germline mutations on breast cancer prognosis: A systematic review and meta-analysis. Medicine (Baltimore). 2016;95(40):e4975. doi:10.1097/MD.0000000000004975
  • 23) Zhu Y, Wu J, Zhang C, et al. BRCA mutations and survival in breast cancer: an updated systematic review and meta-analysis. Oncotarget. 2016;7(43):70113-70127. doi:10.18632/oncotarget.12158
  • 24) Eerola H, Vahteristo P, Sarantaus L, et al. Survival of breast cancer patients in BRCA1, BRCA2, and non-BRCA1/2 breast cancer families: a relative survival analysis from Finland. Int J Cancer. 2001;93(3):368-372. doi:10.1002/ijc.1341
  • 25) Tutt A, Tovey H, Cheang MCU, et al. Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial. Nat Med. 2018;24(5):628-637. doi:10.1038/s41591-018-0009-7
Year 2021, Volume: 11 Issue: 3, 647 - 653, 22.09.2021
https://doi.org/10.31832/smj.934186

Abstract

Project Number

E-71522473-050.01.04-605836

References

  • 1) Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries [published correction appears in CA Cancer J Clin. 2020 Jul;70(4):313]. CA Cancer J Clin. 2018;68(6):394-424. doi:10.3322/caac.21492
  • 2) Claus EB, Schildkraut J, Iversen ES Jr, Berry D, Parmigiani G. Effect of BRCA1 and BRCA2 on the association between breast cancer risk and family history. J Natl Cancer Inst. 1998;90(23):1824-1829. doi:10.1093/jnci/90.23.1824
  • 3) Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer. 2004;4(9):665-676. doi:10.1038/nrc1431
  • 4) Venkitaraman AR. Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell. 2002;108(2):171-182. doi:10.1016/s0092-8674(02)00615-3
  • 5) Nanda R, Schumm LP, Cummings S, et al. Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. JAMA. 2005;294(15):1925-1933. doi:10.1001/jama.294.15.1925
  • 6) Comen E, Davids M, Kirchhoff T, Hudis C, Offit K, Robson M. Relative contributions of BRCA1 and BRCA2 mutations to "triple-negative" breast cancer in Ashkenazi Women. Breast Cancer Res Treat. 2011;129(1):185-190. doi:10.1007/s10549-011-1433-2
  • 7) Claus EB, Schildkraut JM, Thompson WD, Risch NJ. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996;77(11):2318-2324. doi:10.1002/(SICI)1097-0142(19960601)77:11<2318::AID-CNCR21>3.0.CO;2-Z
  • 8) Zweemer RP, Verheijen RH, Menko FH, et al. Differences between hereditary and sporadic ovarian cancer. Eur J Obstet Gynecol Reprod Biol. 1999;82(2):151-153. doi:10.1016/s0301-2115(98)00218-8
  • 9) Cao A, Huang L, Shao Z. The Preventive Intervention of Hereditary Breast Cancer. Adv Exp Med Biol. 2017;1026:41-57. doi:10.1007/978-981-10-6020-5_3
  • 10) Lakhani SR, Van De Vijver MJ, Jacquemier J, et al. 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(9):2310-2318.
  • 11) Chappuis PO, Nethercot V, Foulkes WD. Clinico-pathological characteristics of BRCA1- and BRCA2-related breast cancer. Semin Surg Oncol. 2000;18(4):287-295. doi:10.1002/(sici)1098-2388(200006)18:4<287::aid-ssu3>3.0.co;2-5
  • 12) Armes JE, Venter DJ. The pathology of inherited breast cancer. Pathology. 2002;34(4):309-314. doi:10.1080/00313020220147113
  • 13) Honrado E, Benítez J, Palacios J. The molecular pathology of hereditary breast cancer: genetic testing and therapeutic implications. Mod Pathol. 2005;18(10):1305-1320. doi:10.1038/modpathol.3800453
  • 14) Daly MB, Pilarski R, Berry M, et al. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017. J Natl Compr Canc Netw. 2017;15(1):9-20. doi:10.6004/jnccn.2017.0003
  • 15) Watson M, Foster C, Eeles R, et al. Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort. Br J Cancer. 2004;91(10):1787-1794. doi:10.1038/sj.bjc.6602207
  • 16) Botkin JR, Smith KR, Croyle RT, et al. Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing. Am J Med Genet A. 2003;118A(3):201-209. doi:10.1002/ajmg.a.10102
  • 17) Evans D, Lalloo F, Shenton A, Boggis C, Howell A. Uptake of screening and prevention in women at very high risk of breast cancer. Lancet. 2001;358(9285):889-890. doi:10.1016/S0140-6736(01)06039-1
  • 18) Haffty BG, Harrold E, Khan AJ, et al. Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status. Lancet. 2002;359(9316):1471-1477. doi:10.1016/S0140-6736(02)08434-9
  • 19) Chang J, Elledge RM. Clinical management of women with genomic BRCA1 and BRCA2 mutations. Breast Cancer Res Treat. 2001;69(2):101-113. doi:10.1023/a:1012203917104
  • 20) Foulkes WD, Chappuis PO, Wong N, et al. Primary node negative breast cancer in BRCA1 mutation carriers has a poor outcome. Ann Oncol. 2000;11(3):307-313. doi:10.1023/a:1008340723974
  • 21) Van der Groep P, Bouter A, van der Zanden R, et al. Distinction between hereditary and sporadic breast cancer on the basis of clinicopathological data. J Clin Pathol. 2006;59(6):611-617. doi:10.1136/jcp.2005.032151
  • 22) Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D. Effect of BRCA germline mutations on breast cancer prognosis: A systematic review and meta-analysis. Medicine (Baltimore). 2016;95(40):e4975. doi:10.1097/MD.0000000000004975
  • 23) Zhu Y, Wu J, Zhang C, et al. BRCA mutations and survival in breast cancer: an updated systematic review and meta-analysis. Oncotarget. 2016;7(43):70113-70127. doi:10.18632/oncotarget.12158
  • 24) Eerola H, Vahteristo P, Sarantaus L, et al. Survival of breast cancer patients in BRCA1, BRCA2, and non-BRCA1/2 breast cancer families: a relative survival analysis from Finland. Int J Cancer. 2001;93(3):368-372. doi:10.1002/ijc.1341
  • 25) Tutt A, Tovey H, Cheang MCU, et al. Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial. Nat Med. 2018;24(5):628-637. doi:10.1038/s41591-018-0009-7
There are 25 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Articles
Authors

Kayhan Özdemir 0000-0002-8041-198X

Merve Yiğit 0000-0001-5217-9629

Yasemin Eyüboğlu This is me 0000-0002-6521-7767

Mine Urfalı This is me 0000-0002-9232-2220

Havva Belma Koçer 0000-0002-9888-0661

Project Number E-71522473-050.01.04-605836
Publication Date September 22, 2021
Submission Date May 7, 2021
Published in Issue Year 2021 Volume: 11 Issue: 3

Cite

AMA Özdemir K, Yiğit M, Eyüboğlu Y, Urfalı M, Koçer HB. Herediter ve Ailesel Meme Kanserlerinin Aile Öyküsü ile Klinikopatolojik Özelliklerinin Karşılaştırılması; Tek Merkez Deneyimi. Sakarya Tıp Dergisi. September 2021;11(3):647-653. doi:10.31832/smj.934186

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