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Ductal carcinoma in situ

MedGen UID:
765
Concept ID:
C0007124
Neoplastic Process
Synonym: Ductal breast carcinoma in situ
SNOMED CT: Intraductal carcinoma in situ of breast (109889007); Ductal carcinoma in situ (1162814007); Ductal intraepithelial neoplasia 3 (1162814007); DIN 3 - ductal intraepithelial neoplasia 3 (1162814007); Non-infiltrating intraductal adenocarcinoma (1162814007); DCIS - ductal carcinoma in situ (1162814007); Intraductal carcinoma (1162814007); Intraductal carcinoma noninfiltrating (1162814007); Non-infiltrating intraductal carcinoma (1162814007)
 
HPO: HP:0030075
Monarch Initiative: MONDO:0005023

Definition

Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer. [from HPO]

Conditions with this feature

Cowden syndrome 7
MedGen UID:
908796
Concept ID:
C4225179
Disease or Syndrome
Cowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\nThe features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors.  Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.\n\n
Tumor predisposition syndrome 2
MedGen UID:
1823959
Concept ID:
C5774186
Disease or Syndrome
Tumor predisposition syndrome-2 (TPDS2) is an autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. The most common clinical manifestations include acute myeloid leukemia (AML), myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma, although other tumors and malignancies have been reported (summary by Palles et al., 2022). For a discussion of genetic heterogeneity of TPDS, see TPDS1 (614327).

Professional guidelines

PubMed

Gradishar WJ, Moran MS, Abraham J, Aft R, Agnese D, Allison KH, Anderson B, Burstein HJ, Chew H, Dang C, Elias AD, Giordano SH, Goetz MP, Goldstein LJ, Hurvitz SA, Isakoff SJ, Jankowitz RC, Javid SH, Krishnamurthy J, Leitch M, Lyons J, Mortimer J, Patel SA, Pierce LJ, Rosenberger LH, Rugo HS, Sitapati A, Smith KL, Smith ML, Soliman H, Stringer-Reasor EM, Telli ML, Ward JH, Wisinski KB, Young JS, Burns J, Kumar R
J Natl Compr Canc Netw 2022 Jun;20(6):691-722. doi: 10.6004/jnccn.2022.0030. PMID: 35714673
Trayes KP, Cokenakes SEH
Am Fam Physician 2021 Aug 1;104(2):171-178. PMID: 34383430
Maughan KL, Lutterbie MA, Ham PS
Am Fam Physician 2010 Jun 1;81(11):1339-46. PMID: 20521754

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Breast Cancer, 2023

Breast Cancer, NCCN Guidelines Version 4.2022

Recent clinical studies

Etiology

Kulka J, Madaras L, Floris G, Lax SF
Virchows Arch 2022 Jan;480(1):65-84. Epub 2021 Nov 3 doi: 10.1007/s00428-021-03182-7. PMID: 34734332Free PMC Article
Trayes KP, Cokenakes SEH
Am Fam Physician 2021 Aug 1;104(2):171-178. PMID: 34383430
van Seijen M, Lips EH, Thompson AM, Nik-Zainal S, Futreal A, Hwang ES, Verschuur E, Lane J, Jonkers J, Rea DW, Wesseling J; PRECISION team
Br J Cancer 2019 Aug;121(4):285-292. Epub 2019 Jul 9 doi: 10.1038/s41416-019-0478-6. PMID: 31285590Free PMC Article
Fu F, Gilmore RC, Jacobs LK
Surg Clin North Am 2018 Aug;98(4):725-745. Epub 2018 May 28 doi: 10.1016/j.suc.2018.03.007. PMID: 30005770
Dieci MV, Radosevic-Robin N, Fineberg S, van den Eynden G, Ternes N, Penault-Llorca F, Pruneri G, D'Alfonso TM, Demaria S, Castaneda C, Sanchez J, Badve S, Michiels S, Bossuyt V, Rojo F, Singh B, Nielsen T, Viale G, Kim SR, Hewitt S, Wienert S, Loibl S, Rimm D, Symmans F, Denkert C, Adams S, Loi S, Salgado R; International Immuno-Oncology Biomarker Working Group on Breast Cancer
Semin Cancer Biol 2018 Oct;52(Pt 2):16-25. Epub 2017 Oct 9 doi: 10.1016/j.semcancer.2017.10.003. PMID: 29024776

Diagnosis

Farante G, Toesca A, Magnoni F, Lissidini G, Vila J, Mastropasqua M, Viale G, Penco S, Cassano E, Lazzeroni M, Bonanni B, Leonardi MC, Ripoll-Orts F, Curigliano G, Orecchia R, Galimberti V, Veronesi P
Eur J Surg Oncol 2022 Apr;48(4):736-741. Epub 2021 Nov 9 doi: 10.1016/j.ejso.2021.10.030. PMID: 34772587
Kulka J, Madaras L, Floris G, Lax SF
Virchows Arch 2022 Jan;480(1):65-84. Epub 2021 Nov 3 doi: 10.1007/s00428-021-03182-7. PMID: 34734332Free PMC Article
Trayes KP, Cokenakes SEH
Am Fam Physician 2021 Aug 1;104(2):171-178. PMID: 34383430
Badve SS, Gökmen-Polar Y
Pathology 2019 Oct;51(6):563-569. Epub 2019 Aug 28 doi: 10.1016/j.pathol.2019.07.005. PMID: 31472981Free PMC Article
van Seijen M, Lips EH, Thompson AM, Nik-Zainal S, Futreal A, Hwang ES, Verschuur E, Lane J, Jonkers J, Rea DW, Wesseling J; PRECISION team
Br J Cancer 2019 Aug;121(4):285-292. Epub 2019 Jul 9 doi: 10.1038/s41416-019-0478-6. PMID: 31285590Free PMC Article

Therapy

Chua BH, Link EK, Kunkler IH, Whelan TJ, Westenberg AH, Gruber G, Bryant G, Ahern V, Purohit K, Graham PH, Akra M, McArdle O, O'Brien P, Harvey JA, Kirkove C, Maduro JH, Campbell ID, Delaney GP, Martin JD, Vu TTT, Muanza TM, Neal A, Olivotto IA; BIG 3–07/TROG 07.01 trial investigators
Lancet 2022 Aug 6;400(10350):431-440. doi: 10.1016/S0140-6736(22)01246-6. PMID: 35934006
Offersen BV, Alsner J, Nielsen HM, Jakobsen EH, Nielsen MH, Krause M, Stenbygaard L, Mjaaland I, Schreiber A, Kasti UM, Overgaard J; Danish Breast Cancer Group Radiation Therapy Committee
J Clin Oncol 2020 Nov 1;38(31):3615-3625. Epub 2020 Sep 10 doi: 10.1200/JCO.20.01363. PMID: 32910709
Cuzick J, Sestak I, Forbes JF, Dowsett M, Cawthorn S, Mansel RE, Loibl S, Bonanni B, Evans DG, Howell A; IBIS-II investigators
Lancet 2020 Jan 11;395(10218):117-122. Epub 2019 Dec 12 doi: 10.1016/S0140-6736(19)32955-1. PMID: 31839281Free PMC Article
Fu F, Gilmore RC, Jacobs LK
Surg Clin North Am 2018 Aug;98(4):725-745. Epub 2018 May 28 doi: 10.1016/j.suc.2018.03.007. PMID: 30005770
Correa C, Harris EE, Leonardi MC, Smith BD, Taghian AG, Thompson AM, White J, Harris JR
Pract Radiat Oncol 2017 Mar-Apr;7(2):73-79. Epub 2016 Sep 17 doi: 10.1016/j.prro.2016.09.007. PMID: 27866865

Prognosis

ElSherif A, Freyvogel Ramirez M, Moore EC, Dietz JR, Tu C, Valente SA
Am J Surg 2023 Nov;226(5):646-651. Epub 2023 Jul 14 doi: 10.1016/j.amjsurg.2023.07.012. PMID: 37481406
Farante G, Toesca A, Magnoni F, Lissidini G, Vila J, Mastropasqua M, Viale G, Penco S, Cassano E, Lazzeroni M, Bonanni B, Leonardi MC, Ripoll-Orts F, Curigliano G, Orecchia R, Galimberti V, Veronesi P
Eur J Surg Oncol 2022 Apr;48(4):736-741. Epub 2021 Nov 9 doi: 10.1016/j.ejso.2021.10.030. PMID: 34772587
Cuzick J, Sestak I, Forbes JF, Dowsett M, Cawthorn S, Mansel RE, Loibl S, Bonanni B, Evans DG, Howell A; IBIS-II investigators
Lancet 2020 Jan 11;395(10218):117-122. Epub 2019 Dec 12 doi: 10.1016/S0140-6736(19)32955-1. PMID: 31839281Free PMC Article
DeCensi A, Puntoni M, Guerrieri-Gonzaga A, Caviglia S, Avino F, Cortesi L, Taverniti C, Pacquola MG, Falcini F, Gulisano M, Digennaro M, Cariello A, Cagossi K, Pinotti G, Lazzeroni M, Serrano D, Branchi D, Campora S, Petrera M, Buttiron Webber T, Boni L, Bonanni B
J Clin Oncol 2019 Jul 1;37(19):1629-1637. Epub 2019 Apr 11 doi: 10.1200/JCO.18.01779. PMID: 30973790Free PMC Article
Løberg M, Lousdal ML, Bretthauer M, Kalager M
Breast Cancer Res 2015 May 1;17(1):63. doi: 10.1186/s13058-015-0525-z. PMID: 25928287Free PMC Article

Clinical prediction guides

Biganzoli L, Battisti NML, Wildiers H, McCartney A, Colloca G, Kunkler IH, Cardoso MJ, Cheung KL, de Glas NA, Trimboli RM, Korc-Grodzicki B, Soto-Perez-de-Celis E, Ponti A, Tsang J, Marotti L, Benn K, Aapro MS, Brain EGC
Lancet Oncol 2021 Jul;22(7):e327-e340. Epub 2021 May 14 doi: 10.1016/S1470-2045(20)30741-5. PMID: 34000244
Van Bockstal MR, Berlière M, Duhoux FP, Galant C
Am J Clin Pathol 2020 Oct 13;154(5):596-609. doi: 10.1093/ajcp/aqaa077. PMID: 32566938
Fu F, Gilmore RC, Jacobs LK
Surg Clin North Am 2018 Aug;98(4):725-745. Epub 2018 May 28 doi: 10.1016/j.suc.2018.03.007. PMID: 30005770
Agahozo MC, Hammerl D, Debets R, Kok M, van Deurzen CHM
Mod Pathol 2018 Jul;31(7):1012-1025. Epub 2018 Feb 20 doi: 10.1038/s41379-018-0030-x. PMID: 29463884
Park TS, Hwang ES
Oncology (Williston Park) 2016 Sep 15;30(9):823-31. PMID: 27633413

Recent systematic reviews

Poelhekken K, Lin Y, Greuter MJW, van der Vegt B, Dorrius M, de Bock GH
Breast 2023 Oct;71:74-81. Epub 2023 Jul 27 doi: 10.1016/j.breast.2023.07.012. PMID: 37541171Free PMC Article
Hussein H, Abbas E, Keshavarzi S, Fazelzad R, Bukhanov K, Kulkarni S, Au F, Ghai S, Alabousi A, Freitas V
Radiology 2023 Mar;306(3):e221785. Epub 2023 Jan 31 doi: 10.1148/radiol.221785. PMID: 36719288
Bundred JR, Michael S, Stuart B, Cutress RI, Beckmann K, Holleczek B, Dahlstrom JE, Gath J, Dodwell D, Bundred NJ
BMJ 2022 Sep 21;378:e070346. doi: 10.1136/bmj-2022-070346. PMID: 36130770Free PMC Article
King MT, Winters ZE, Olivotto IA, Spillane AJ, Chua BH, Saunders C, Westenberg AH, Mann GB, Burnett P, Butow P, Rutherford C
Eur J Cancer 2017 Jan;71:95-108. Epub 2016 Dec 15 doi: 10.1016/j.ejca.2016.09.035. PMID: 27987454
Myers ER, Moorman P, Gierisch JM, Havrilesky LJ, Grimm LJ, Ghate S, Davidson B, Mongtomery RC, Crowley MJ, McCrory DC, Kendrick A, Sanders GD
JAMA 2015 Oct 20;314(15):1615-34. doi: 10.1001/jama.2015.13183. PMID: 26501537

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    Curated

    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Breast Cancer, 2023
    • NCCN, 2023
      Breast Cancer, NCCN Guidelines Version 4.2022

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