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Breast cancer, susceptibility to

MedGen UID:
854012
Concept ID:
C3469522
Finding
Synonym: BREAST CANCER, SUSCEPTIBILITY TO
 
OMIM®: 176705; 600675; 601593; 604373; 607585; 609300; 611731

Definition

Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare.

In its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, redness, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer.

In some cases, cancerous cells can invade surrounding breast tissue. In these cases, the condition is known as invasive breast cancer. Sometimes, tumors spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.

A small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Mottet N, van den Bergh RCN, Briers E, Van den Broeck T, Cumberbatch MG, De Santis M, Fanti S, Fossati N, Gandaglia G, Gillessen S, Grivas N, Grummet J, Henry AM, van der Kwast TH, Lam TB, Lardas M, Liew M, Mason MD, Moris L, Oprea-Lager DE, van der Poel HG, Rouvière O, Schoots IG, Tilki D, Wiegel T, Willemse PM, Cornford P
Eur Urol 2021 Feb;79(2):243-262. Epub 2020 Nov 7 doi: 10.1016/j.eururo.2020.09.042. PMID: 33172724
Brier MJ, Chambless DL, Gross R, Chen J, Mao JJ
Cancer 2017 Jan 1;123(1):169-176. Epub 2016 Aug 29 doi: 10.1002/cncr.30318. PMID: 27570979Free PMC Article
Domchek SM
J Clin Oncol 2015 Feb 1;33(4):295-6. Epub 2014 Dec 15 doi: 10.1200/JCO.2014.59.3178. PMID: 25512463

Curated

UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023

Recent clinical studies

Etiology

Huber-Keener KJ
Best Pract Res Clin Obstet Gynaecol 2022 Jun;82:3-11. Epub 2022 Jan 31 doi: 10.1016/j.bpobgyn.2022.01.007. PMID: 35272929
Rossi L, Mazzara C, Pagani O
Curr Treat Options Oncol 2019 Nov 27;20(12):86. doi: 10.1007/s11864-019-0685-7. PMID: 31776799
Mokbel K, Mokbel K
In Vivo 2019 Jul-Aug;33(4):983-997. doi: 10.21873/invivo.11568. PMID: 31280187Free PMC Article
Woolston C
Nature 2015 Nov 19;527(7578):S101. doi: 10.1038/527S101a. PMID: 26580154
Filippini SE, Vega A
Front Biosci (Landmark Ed) 2013 Jun 1;18(4):1358-72. doi: 10.2741/4185. PMID: 23747889

Diagnosis

McCart Reed AE, Kalinowski L, Simpson PT, Lakhani SR
Breast Cancer Res 2021 Jan 7;23(1):6. doi: 10.1186/s13058-020-01384-6. PMID: 33413533Free PMC Article
Rossi L, Mazzara C, Pagani O
Curr Treat Options Oncol 2019 Nov 27;20(12):86. doi: 10.1007/s11864-019-0685-7. PMID: 31776799
Winters S, Martin C, Murphy D, Shokar NK
Prog Mol Biol Transl Sci 2017;151:1-32. Epub 2017 Oct 10 doi: 10.1016/bs.pmbts.2017.07.002. PMID: 29096890
Woolston C
Nature 2015 Nov 19;527(7578):S101. doi: 10.1038/527S101a. PMID: 26580154
Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR
Cancer 2015 Jan 1;121(1):25-33. Epub 2014 Sep 3 doi: 10.1002/cncr.29010. PMID: 25186627

Therapy

Zhou X, Yu L, Wang L, Xiao J, Sun J, Zhou Y, Xu X, Xu W, Spiliopoulou A, Timofeeva M, Zhang X, He Y, Yang H, Campbell H, Zhang B, Zhu Y, Theodoratou E, Li X
Eur J Epidemiol 2022 Jul;37(7):701-712. Epub 2022 Jun 16 doi: 10.1007/s10654-022-00886-1. PMID: 35708873Free PMC Article
Ellingjord-Dale M, Papadimitriou N, Katsoulis M, Yee C, Dimou N, Gill D, Aune D, Ong JS, MacGregor S, Elsworth B, Lewis SJ, Martin RM, Riboli E, Tsilidis KK
PLoS One 2021;16(1):e0236904. Epub 2021 Jan 19 doi: 10.1371/journal.pone.0236904. PMID: 33465101Free PMC Article
Mokbel K, Mokbel K
In Vivo 2019 Jul-Aug;33(4):983-997. doi: 10.21873/invivo.11568. PMID: 31280187Free PMC Article
Carbine NE, Lostumbo L, Wallace J, Ko H
Cochrane Database Syst Rev 2018 Apr 5;4(4):CD002748. doi: 10.1002/14651858.CD002748.pub4. PMID: 29620792Free PMC Article
Wiernik PH
Curr Treat Options Oncol 2015 Feb;16(2):8. doi: 10.1007/s11864-014-0323-3. PMID: 25762123

Prognosis

McCart Reed AE, Kalinowski L, Simpson PT, Lakhani SR
Breast Cancer Res 2021 Jan 7;23(1):6. doi: 10.1186/s13058-020-01384-6. PMID: 33413533Free PMC Article
Sukumar J, Gast K, Quiroga D, Lustberg M, Williams N
Expert Rev Anticancer Ther 2021 Feb;21(2):135-148. doi: 10.1080/14737140.2021.1840984. PMID: 33198517Free PMC Article
Taurin S, Alkhalifa H
Neoplasia 2020 Dec;22(12):663-678. Epub 2020 Oct 23 doi: 10.1016/j.neo.2020.09.009. PMID: 33142233Free PMC Article
Liang Y, Zhang H, Song X, Yang Q
Semin Cancer Biol 2020 Feb;60:14-27. Epub 2019 Aug 14 doi: 10.1016/j.semcancer.2019.08.012. PMID: 31421262
Ruddy KJ, Winer EP
Ann Oncol 2013 Jun;24(6):1434-43. Epub 2013 Feb 20 doi: 10.1093/annonc/mdt025. PMID: 23425944

Clinical prediction guides

Roberts E, Howell S, Evans DG
Breast 2023 Feb;67:71-77. Epub 2023 Jan 10 doi: 10.1016/j.breast.2023.01.003. PMID: 36646003Free PMC Article
Munir MT, Kay MK, Kang MH, Rahman MM, Al-Harrasi A, Choudhury M, Moustaid-Moussa N, Hussain F, Rahman SM
Int J Mol Sci 2021 Jun 18;22(12) doi: 10.3390/ijms22126526. PMID: 34207035Free PMC Article
Taurin S, Alkhalifa H
Neoplasia 2020 Dec;22(12):663-678. Epub 2020 Oct 23 doi: 10.1016/j.neo.2020.09.009. PMID: 33142233Free PMC Article
Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR
Cancer 2015 Jan 1;121(1):25-33. Epub 2014 Sep 3 doi: 10.1002/cncr.29010. PMID: 25186627
Paul A, Paul S
Front Biosci (Landmark Ed) 2014 Jan 1;19(4):605-18. doi: 10.2741/4230. PMID: 24389207Free PMC Article

Recent systematic reviews

Mottet N, van den Bergh RCN, Briers E, Van den Broeck T, Cumberbatch MG, De Santis M, Fanti S, Fossati N, Gandaglia G, Gillessen S, Grivas N, Grummet J, Henry AM, van der Kwast TH, Lam TB, Lardas M, Liew M, Mason MD, Moris L, Oprea-Lager DE, van der Poel HG, Rouvière O, Schoots IG, Tilki D, Wiegel T, Willemse PM, Cornford P
Eur Urol 2021 Feb;79(2):243-262. Epub 2020 Nov 7 doi: 10.1016/j.eururo.2020.09.042. PMID: 33172724
Carbine NE, Lostumbo L, Wallace J, Ko H
Cochrane Database Syst Rev 2018 Apr 5;4(4):CD002748. doi: 10.1002/14651858.CD002748.pub4. PMID: 29620792Free PMC Article
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
Ruddy KJ, Winer EP
Ann Oncol 2013 Jun;24(6):1434-43. Epub 2013 Feb 20 doi: 10.1093/annonc/mdt025. PMID: 23425944
Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV
Gut 2010 Jul;59(7):975-86. doi: 10.1136/gut.2009.198499. PMID: 20581245

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2023
      UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023

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