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Hereditary Female Breast Carcinoma

MedGen UID:
272712
•Concept ID:
C1333986
•
Neoplastic Process
Synonym: Familial Female Breast Carcinoma

Definition

Breast carcinoma that has developed in female relatives of patients with history of breast carcinoma. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary Female Breast Carcinoma

Professional guidelines

PubMed

Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.
Pujol P, Barberis M, Beer P, Friedman E, Piulats JM, Capoluongo ED, Garcia Foncillas J, Ray-Coquard I, Penault-Llorca F, Foulkes WD, Turnbull C, Hanson H, Narod S, Arun BK, Aapro MS, Mandel JL, Normanno N, Lambrechts D, Vergote I, Anahory M, Baertschi B, Baudry K, Bignon YJ, Bollet M, Corsini C, Cussenot O, De la Motte Rouge T, Duboys de Labarre M, Duchamp F, Duriez C, Fizazi K, Galibert V, Gladieff L, Gligorov J, Hammel P, Imbert-Bouteille M, Jacot W, Kogut-Kubiak T, Lamy PJ, Nambot S, Neuzillet Y, Olschwang S, Rebillard X, Rey JM, Rideau C, Spano JP, Thomas F, Treilleux I, Vandromme M, Vendrell J, Vintraud M, Zarca D, Hughes KS, Alés Martínez JE
Eur J Cancer 2021 Mar;146:30-47. Epub 2021 Feb 10 doi: 10.1016/j.ejca.2020.12.023. PMID: 33578357
BRCA1/BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies.
Lee A, Moon BI, Kim TH
Ann Lab Med 2020 Mar;40(2):114-121. doi: 10.3343/alm.2020.40.2.114. PMID: 31650727Free PMC Article
Diagnosis and Management of Endometrial Cancer.
Braun MM, Overbeek-Wager EA, Grumbo RJ
Am Fam Physician 2016 Mar 15;93(6):468-74. PMID: 26977831

Recent clinical studies

Etiology

Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management.
Yoshimura A, Imoto I, Iwata H
Int J Mol Sci 2022 Jul 5;23(13) doi: 10.3390/ijms23137481. PMID: 35806485Free PMC Article
Young Women With Breast Cancer: Treatment, Care, and Nursing Implications.
Corey B, Smania MA, Spotts H, Andersen M
Clin J Oncol Nurs 2020 Apr 1;24(2):139-147. doi: 10.1188/20.CJON.139-147. PMID: 32196004
BRCA1/BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies.
Lee A, Moon BI, Kim TH
Ann Lab Med 2020 Mar;40(2):114-121. doi: 10.3343/alm.2020.40.2.114. PMID: 31650727Free PMC Article
Contrast-enhanced MRI for breast cancer screening.
Mann RM, Kuhl CK, Moy L
J Magn Reson Imaging 2019 Aug;50(2):377-390. Epub 2019 Jan 18 doi: 10.1002/jmri.26654. PMID: 30659696Free PMC Article
Genetics of breast cancer: a topic in evolution.
Shiovitz S, Korde LA
Ann Oncol 2015 Jul;26(7):1291-9. Epub 2015 Jan 20 doi: 10.1093/annonc/mdv022. PMID: 25605744Free PMC Article

Diagnosis

Hereditary Diffuse Gastric Cancer.
Decourtye-Espiard L, Guilford P
Gastroenterology 2023 Apr;164(5):719-735. Epub 2023 Feb 4 doi: 10.1053/j.gastro.2023.01.038. PMID: 36740198
Hereditary Breast and Ovarian Cancer: An Updated Primer for OB/GYNs.
Bellcross CA
Obstet Gynecol Clin North Am 2022 Mar;49(1):117-147. doi: 10.1016/j.ogc.2021.11.005. PMID: 35168766
Health and Racial Disparity in Breast Cancer.
Yedjou CG, Sims JN, Miele L, Noubissi F, Lowe L, Fonseca DD, Alo RA, Payton M, Tchounwou PB
Adv Exp Med Biol 2019;1152:31-49. doi: 10.1007/978-3-030-20301-6_3. PMID: 31456178Free PMC Article
Molecular Testing in Breast Cancer.
Litton JK, Burstein HJ, Turner NC
Am Soc Clin Oncol Educ Book 2019 Jan;39:e1-e7. Epub 2019 May 17 doi: 10.1200/EDBK_237715. PMID: 31099622
Contrast-enhanced MRI for breast cancer screening.
Mann RM, Kuhl CK, Moy L
J Magn Reson Imaging 2019 Aug;50(2):377-390. Epub 2019 Jan 18 doi: 10.1002/jmri.26654. PMID: 30659696Free PMC Article

Therapy

Artificial intelligence-supported screen reading versus standard double reading in the Mammography Screening with Artificial Intelligence trial (MASAI): a clinical safety analysis of a randomised, controlled, non-inferiority, single-blinded, screening accuracy study.
Lång K, Josefsson V, Larsson AM, Larsson S, Högberg C, Sartor H, Hofvind S, Andersson I, Rosso A
Lancet Oncol 2023 Aug;24(8):936-944. doi: 10.1016/S1470-2045(23)00298-X. PMID: 37541274
Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer.
Tutt ANJ, Garber JE, Kaufman B, Viale G, Fumagalli D, Rastogi P, Gelber RD, de Azambuja E, Fielding A, Balmaña J, Domchek SM, Gelmon KA, Hollingsworth SJ, Korde LA, Linderholm B, Bandos H, Senkus E, Suga JM, Shao Z, Pippas AW, Nowecki Z, Huzarski T, Ganz PA, Lucas PC, Baker N, Loibl S, McConnell R, Piccart M, Schmutzler R, Steger GG, Costantino JP, Arahmani A, Wolmark N, McFadden E, Karantza V, Lakhani SR, Yothers G, Campbell C, Geyer CE Jr; OlympiA Clinical Trial Steering Committee and Investigators
N Engl J Med 2021 Jun 24;384(25):2394-2405. Epub 2021 Jun 3 doi: 10.1056/NEJMoa2105215. PMID: 34081848Free PMC Article
Breast cancer stem cells, heterogeneity, targeting therapies and therapeutic implications.
Zeng X, Liu C, Yao J, Wan H, Wan G, Li Y, Chen N
Pharmacol Res 2021 Jan;163:105320. Epub 2020 Dec 1 doi: 10.1016/j.phrs.2020.105320. PMID: 33271295
BRCA1/BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies.
Lee A, Moon BI, Kim TH
Ann Lab Med 2020 Mar;40(2):114-121. doi: 10.3343/alm.2020.40.2.114. PMID: 31650727Free PMC Article
Breastfeeding and maternal and infant health outcomes in developed countries.
Ip S, Chung M, Raman G, Chew P, Magula N, DeVine D, Trikalinos T, Lau J
Evid Rep Technol Assess (Full Rep) 2007 Apr;(153):1-186. PMID: 17764214Free PMC Article

Prognosis

Hereditary Breast and Ovarian Cancer: An Updated Primer for OB/GYNs.
Bellcross CA
Obstet Gynecol Clin North Am 2022 Mar;49(1):117-147. doi: 10.1016/j.ogc.2021.11.005. PMID: 35168766
Breast cancer stem cells, heterogeneity, targeting therapies and therapeutic implications.
Zeng X, Liu C, Yao J, Wan H, Wan G, Li Y, Chen N
Pharmacol Res 2021 Jan;163:105320. Epub 2020 Dec 1 doi: 10.1016/j.phrs.2020.105320. PMID: 33271295
BRCA1/BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies.
Lee A, Moon BI, Kim TH
Ann Lab Med 2020 Mar;40(2):114-121. doi: 10.3343/alm.2020.40.2.114. PMID: 31650727Free PMC Article
Molecular Testing in Breast Cancer.
Litton JK, Burstein HJ, Turner NC
Am Soc Clin Oncol Educ Book 2019 Jan;39:e1-e7. Epub 2019 May 17 doi: 10.1200/EDBK_237715. PMID: 31099622
Contrast-enhanced MRI for breast cancer screening.
Mann RM, Kuhl CK, Moy L
J Magn Reson Imaging 2019 Aug;50(2):377-390. Epub 2019 Jan 18 doi: 10.1002/jmri.26654. PMID: 30659696Free PMC Article

Clinical prediction guides

Hereditary Breast and Ovarian Cancer: An Updated Primer for OB/GYNs.
Bellcross CA
Obstet Gynecol Clin North Am 2022 Mar;49(1):117-147. doi: 10.1016/j.ogc.2021.11.005. PMID: 35168766
Breast cancer stem cells, heterogeneity, targeting therapies and therapeutic implications.
Zeng X, Liu C, Yao J, Wan H, Wan G, Li Y, Chen N
Pharmacol Res 2021 Jan;163:105320. Epub 2020 Dec 1 doi: 10.1016/j.phrs.2020.105320. PMID: 33271295
Molecular Testing in Breast Cancer.
Litton JK, Burstein HJ, Turner NC
Am Soc Clin Oncol Educ Book 2019 Jan;39:e1-e7. Epub 2019 May 17 doi: 10.1200/EDBK_237715. PMID: 31099622
Contrast-enhanced MRI for breast cancer screening.
Mann RM, Kuhl CK, Moy L
J Magn Reson Imaging 2019 Aug;50(2):377-390. Epub 2019 Jan 18 doi: 10.1002/jmri.26654. PMID: 30659696Free PMC Article
Genetics of breast cancer: a topic in evolution.
Shiovitz S, Korde LA
Ann Oncol 2015 Jul;26(7):1291-9. Epub 2015 Jan 20 doi: 10.1093/annonc/mdv022. PMID: 25605744Free PMC Article

Recent systematic reviews

Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline.
Bedrosian I, Somerfield MR, Achatz MI, Boughey JC, Curigliano G, Friedman S, Kohlmann WK, Kurian AW, Laronga C, Lynce F, Norquist BS, Plichta JK, Rodriguez P, Shah PD, Tischkowitz M, Wood M, Yadav S, Yao K, Robson ME
J Clin Oncol 2024 Feb 10;42(5):584-604. Epub 2024 Jan 4 doi: 10.1200/JCO.23.02225. PMID: 38175972
Germline CDH1 variants in hereditary diffuse gastric cancer syndrome with focus on younger women.
Corso G, Comelli G, Veronesi P, Bianchi B, Petitto S, Polizzi A, Girardi A, Cioffi A, La Vecchia C, Bagnardi V, Magnoni F
J Cancer Res Clin Oncol 2023 Nov;149(17):16147-16155. Epub 2023 Aug 28 doi: 10.1007/s00432-023-05318-5. PMID: 37639007
Latinx attitudes, barriers, and experiences with genetic counseling and testing: A systematic review.
Dron HA, Bucio D, Young JL, Tabor HK, Cho MK
J Genet Couns 2023 Feb;32(1):166-181. Epub 2022 Oct 27 doi: 10.1002/jgc4.1632. PMID: 36301246Free PMC Article
BRCA Genes and Related Cancers: A Meta-Analysis from Epidemiological Cohort Studies.
Lee YC, Lee YL, Li CY
Medicina (Kaunas) 2021 Aug 30;57(9) doi: 10.3390/medicina57090905. PMID: 34577828Free PMC Article
Hormone replacement therapy in BRCA mutation carriers and risk of ovarian, endometrial, and breast cancer: a systematic review.
Huber D, Seitz S, Kast K, Emons G, Ortmann O
J Cancer Res Clin Oncol 2021 Jul;147(7):2035-2045. Epub 2021 Apr 22 doi: 10.1007/s00432-021-03629-z. PMID: 33885953Free PMC Article

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