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BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

MedGen UID:
382626
•Concept ID:
C2675521
•
Finding
OMIM®: 612555

Professional guidelines

PubMed

Surgical Management of Hereditary Breast Cancer.
Berger ER, Golshan M
Genes (Basel) 2021 Aug 31;12(9) doi: 10.3390/genes12091371. PMID: 34573353Free PMC Article
Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline.
Tung NM, Boughey JC, Pierce LJ, Robson ME, Bedrosian I, Dietz JR, Dragun A, Gelpi JB, Hofstatter EW, Isaacs CJ, Jatoi I, Kennedy E, Litton JK, Mayr NA, Qamar RD, Trombetta MG, Harvey BE, Somerfield MR, Zakalik D
J Clin Oncol 2020 Jun 20;38(18):2080-2106. Epub 2020 Apr 3 doi: 10.1200/JCO.20.00299. PMID: 32243226
Management of hereditary breast and ovarian cancer.
Yamauchi H, Takei J
Int J Clin Oncol 2018 Feb;23(1):45-51. Epub 2017 Nov 28 doi: 10.1007/s10147-017-1208-9. PMID: 29185095

Recent clinical studies

Etiology

Cancer genetics and breast cancer.
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
Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.
Palmer JR, Polley EC, Hu C, John EM, Haiman C, Hart SN, Gaudet M, Pal T, Anton-Culver H, Trentham-Dietz A, Bernstein L, Ambrosone CB, Bandera EV, Bertrand KA, Bethea TN, Gao C, Gnanaolivu RD, Huang H, Lee KY, LeMarchand L, Na J, Sandler DP, Shah PD, Yadav S, Yang W, Weitzel JN, Domchek SM, Goldgar DE, Nathanson KL, Kraft P, Yao S, Couch FJ
J Natl Cancer Inst 2020 Dec 14;112(12):1213-1221. doi: 10.1093/jnci/djaa040. PMID: 32427313Free PMC Article
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.
Li JY, Jing R, Wei H, Wang M, Xiaowei Q, Liu H, Jian L, Ou JH, Jiang WH, Tian FG, Sheng Y, Li HY, Xu H, Zhang RS, Guan AH, Liu K, Jiang HC, Ren Y, He JJ, Huang W, Liao N, Cai X, Ming J, Ling R, Xu Y, Hu CY, Zhang J, Guo B, Ouyang L, Shuai P, Liu Z, Zhong L, Zeng Z, Zhang T, Xuan Z, Tan X, Liang J, Pan Q, Chen L, Zhang F, Fan LJ, Zhang Y, Yang X, BoLi J, Chen C, Jiang J
Int J Cancer 2019 Jan 15;144(2):281-289. Epub 2018 Nov 8 doi: 10.1002/ijc.31601. PMID: 29752822
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
Kraus C, Hoyer J, Vasileiou G, Wunderle M, Lux MP, Fasching PA, Krumbiegel M, Uebe S, Reuter M, Beckmann MW, Reis A
Int J Cancer 2017 Jan 1;140(1):95-102. Epub 2016 Sep 23 doi: 10.1002/ijc.30428. PMID: 27616075
Breast-cancer risk in families with mutations in PALB2.
Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, Lee A, Subramanian D, De Leeneer K, Fostira F, Tomiak E, Neuhausen SL, Teo ZL, Khan S, Aittomäki K, Moilanen JS, Turnbull C, Seal S, Mannermaa A, Kallioniemi A, Lindeman GJ, Buys SS, Andrulis IL, Radice P, Tondini C, Manoukian S, Toland AE, Miron P, Weitzel JN, Domchek SM, Poppe B, Claes KB, Yannoukakos D, Concannon P, Bernstein JL, James PA, Easton DF, Goldgar DE, Hopper JL, Rahman N, Peterlongo P, Nevanlinna H, King MC, Couch FJ, Southey MC, Winqvist R, Foulkes WD, Tischkowitz M
N Engl J Med 2014 Aug 7;371(6):497-506. doi: 10.1056/NEJMoa1400382. PMID: 25099575Free PMC Article

Diagnosis

Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.
Palmer JR, Polley EC, Hu C, John EM, Haiman C, Hart SN, Gaudet M, Pal T, Anton-Culver H, Trentham-Dietz A, Bernstein L, Ambrosone CB, Bandera EV, Bertrand KA, Bethea TN, Gao C, Gnanaolivu RD, Huang H, Lee KY, LeMarchand L, Na J, Sandler DP, Shah PD, Yadav S, Yang W, Weitzel JN, Domchek SM, Goldgar DE, Nathanson KL, Kraft P, Yao S, Couch FJ
J Natl Cancer Inst 2020 Dec 14;112(12):1213-1221. doi: 10.1093/jnci/djaa040. PMID: 32427313Free PMC Article
Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline.
Tung NM, Boughey JC, Pierce LJ, Robson ME, Bedrosian I, Dietz JR, Dragun A, Gelpi JB, Hofstatter EW, Isaacs CJ, Jatoi I, Kennedy E, Litton JK, Mayr NA, Qamar RD, Trombetta MG, Harvey BE, Somerfield MR, Zakalik D
J Clin Oncol 2020 Jun 20;38(18):2080-2106. Epub 2020 Apr 3 doi: 10.1200/JCO.20.00299. PMID: 32243226
Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
Weitzel JN, Neuhausen SL, Adamson A, Tao S, Ricker C, Maoz A, Rosenblatt M, Nehoray B, Sand S, Steele L, Unzeitig G, Feldman N, Blanco AM, Hu D, Huntsman S, Castillo D, Haiman C, Slavin T, Ziv E
Cancer 2019 Aug 15;125(16):2829-2836. Epub 2019 Jun 17 doi: 10.1002/cncr.32083. PMID: 31206626Free PMC Article
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.
Li JY, Jing R, Wei H, Wang M, Xiaowei Q, Liu H, Jian L, Ou JH, Jiang WH, Tian FG, Sheng Y, Li HY, Xu H, Zhang RS, Guan AH, Liu K, Jiang HC, Ren Y, He JJ, Huang W, Liao N, Cai X, Ming J, Ling R, Xu Y, Hu CY, Zhang J, Guo B, Ouyang L, Shuai P, Liu Z, Zhong L, Zeng Z, Zhang T, Xuan Z, Tan X, Liang J, Pan Q, Chen L, Zhang F, Fan LJ, Zhang Y, Yang X, BoLi J, Chen C, Jiang J
Int J Cancer 2019 Jan 15;144(2):281-289. Epub 2018 Nov 8 doi: 10.1002/ijc.31601. PMID: 29752822
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
Kraus C, Hoyer J, Vasileiou G, Wunderle M, Lux MP, Fasching PA, Krumbiegel M, Uebe S, Reuter M, Beckmann MW, Reis A
Int J Cancer 2017 Jan 1;140(1):95-102. Epub 2016 Sep 23 doi: 10.1002/ijc.30428. PMID: 27616075

Therapy

Potential agnostic role of BRCA alterations in patients with several solid tumors: One for all, all for one?
Fanale D, Corsini LR, Pedone E, Randazzo U, Fiorino A, Di Piazza M, Brando C, Magrin L, Contino S, Piraino P, Bazan Russo TD, Cipolla C, Russo A, Bazan V
Crit Rev Oncol Hematol 2023 Oct;190:104086. Epub 2023 Aug 2 doi: 10.1016/j.critrevonc.2023.104086. PMID: 37536445
Surgical Management of Hereditary Breast Cancer.
Berger ER, Golshan M
Genes (Basel) 2021 Aug 31;12(9) doi: 10.3390/genes12091371. PMID: 34573353Free PMC Article
Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline.
Tung NM, Boughey JC, Pierce LJ, Robson ME, Bedrosian I, Dietz JR, Dragun A, Gelpi JB, Hofstatter EW, Isaacs CJ, Jatoi I, Kennedy E, Litton JK, Mayr NA, Qamar RD, Trombetta MG, Harvey BE, Somerfield MR, Zakalik D
J Clin Oncol 2020 Jun 20;38(18):2080-2106. Epub 2020 Apr 3 doi: 10.1200/JCO.20.00299. PMID: 32243226
Blood arsenic levels and the risk of familial breast cancer in Poland.
Marciniak W, Derkacz R, Muszyńska M, Baszuk P, Gronwald J, Huzarski T, Cybulski C, Jakubowska A, Falco M, Dębniak T, Lener M, Oszurek O, Pullella K, Kotsopoulos J, Sun P, Narod SA, Lubiński J
Int J Cancer 2020 May 15;146(10):2721-2727. Epub 2019 Aug 26 doi: 10.1002/ijc.32595. PMID: 31348523Free PMC Article
Management of hereditary breast and ovarian cancer.
Yamauchi H, Takei J
Int J Clin Oncol 2018 Feb;23(1):45-51. Epub 2017 Nov 28 doi: 10.1007/s10147-017-1208-9. PMID: 29185095

Prognosis

Understanding genetic variations associated with familial breast cancer.
Pal M, Das D, Pandey M
World J Surg Oncol 2024 Oct 10;22(1):271. doi: 10.1186/s12957-024-03553-9. PMID: 39390525Free PMC Article
Potential Phytochemicals for Prevention of Familial Breast Cancer with BRCA Mutations.
Shahiwala AF, Khan GA
Curr Drug Targets 2023;24(6):521-531. doi: 10.2174/1389450124666230314110800. PMID: 36918779
Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Goina E, Acedo A, Buratti E, Velasco EA
J Pathol 2019 Aug;248(4):409-420. Epub 2019 Apr 23 doi: 10.1002/path.5268. PMID: 30883759
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.
Li JY, Jing R, Wei H, Wang M, Xiaowei Q, Liu H, Jian L, Ou JH, Jiang WH, Tian FG, Sheng Y, Li HY, Xu H, Zhang RS, Guan AH, Liu K, Jiang HC, Ren Y, He JJ, Huang W, Liao N, Cai X, Ming J, Ling R, Xu Y, Hu CY, Zhang J, Guo B, Ouyang L, Shuai P, Liu Z, Zhong L, Zeng Z, Zhang T, Xuan Z, Tan X, Liang J, Pan Q, Chen L, Zhang F, Fan LJ, Zhang Y, Yang X, BoLi J, Chen C, Jiang J
Int J Cancer 2019 Jan 15;144(2):281-289. Epub 2018 Nov 8 doi: 10.1002/ijc.31601. PMID: 29752822
Management of hereditary breast and ovarian cancer.
Yamauchi H, Takei J
Int J Clin Oncol 2018 Feb;23(1):45-51. Epub 2017 Nov 28 doi: 10.1007/s10147-017-1208-9. PMID: 29185095

Clinical prediction guides

Screening of BRCA1/2 variants in Mauritanian breast cancer patients.
Brahim SM, Zein EE, Bonnet C, Hamed CT, Salame M, Zein MV, Khyatti M, Tolba A, Houmeida A
BMC Cancer 2022 Jul 20;22(1):802. doi: 10.1186/s12885-022-09903-8. PMID: 35858847Free PMC Article
Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.
Palmer JR, Polley EC, Hu C, John EM, Haiman C, Hart SN, Gaudet M, Pal T, Anton-Culver H, Trentham-Dietz A, Bernstein L, Ambrosone CB, Bandera EV, Bertrand KA, Bethea TN, Gao C, Gnanaolivu RD, Huang H, Lee KY, LeMarchand L, Na J, Sandler DP, Shah PD, Yadav S, Yang W, Weitzel JN, Domchek SM, Goldgar DE, Nathanson KL, Kraft P, Yao S, Couch FJ
J Natl Cancer Inst 2020 Dec 14;112(12):1213-1221. doi: 10.1093/jnci/djaa040. PMID: 32427313Free PMC Article
Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Goina E, Acedo A, Buratti E, Velasco EA
J Pathol 2019 Aug;248(4):409-420. Epub 2019 Apr 23 doi: 10.1002/path.5268. PMID: 30883759
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.
Li JY, Jing R, Wei H, Wang M, Xiaowei Q, Liu H, Jian L, Ou JH, Jiang WH, Tian FG, Sheng Y, Li HY, Xu H, Zhang RS, Guan AH, Liu K, Jiang HC, Ren Y, He JJ, Huang W, Liao N, Cai X, Ming J, Ling R, Xu Y, Hu CY, Zhang J, Guo B, Ouyang L, Shuai P, Liu Z, Zhong L, Zeng Z, Zhang T, Xuan Z, Tan X, Liang J, Pan Q, Chen L, Zhang F, Fan LJ, Zhang Y, Yang X, BoLi J, Chen C, Jiang J
Int J Cancer 2019 Jan 15;144(2):281-289. Epub 2018 Nov 8 doi: 10.1002/ijc.31601. PMID: 29752822
The Preventive Intervention of Hereditary Breast Cancer.
Cao A, Huang L, Shao Z
Adv Exp Med Biol 2017;1026:41-57. doi: 10.1007/978-981-10-6020-5_3. PMID: 29282679

Recent systematic reviews

Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.
de Freitas Ribeiro AA, Junior NMC, Dos Santos LL
Eur J Med Res 2024 Mar 20;29(1):187. doi: 10.1186/s40001-024-01767-x. PMID: 38504328Free PMC Article
Family history and breast cancer risk for Asian women: a systematic review and meta-analysis.
Wang H, MacInnis RJ, Li S
BMC Med 2023 Jul 3;21(1):239. doi: 10.1186/s12916-023-02950-3. PMID: 37400822Free PMC Article
Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis.
Alter BP, Best AF
Breast Cancer Res Treat 2020 Jul;182(2):465-476. Epub 2020 Jun 2 doi: 10.1007/s10549-020-05710-6. PMID: 32488392
A new paradigm of genetic testing for hereditary breast/ovarian cancers.
Kwong A, Chen JW, Shin VY
Hong Kong Med J 2016 Apr;22(2):171-7. Epub 2016 Mar 14 doi: 10.12809/hkmj154634. PMID: 26980575
Germline DNA variations in breast cancer predisposition and prognosis: a systematic review of the literature.
Sapkota Y
Cytogenet Genome Res 2014;144(2):77-91. Epub 2014 Nov 15 doi: 10.1159/000369045. PMID: 25401968

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