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BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

MedGen UID:
436751
•Concept ID:
C2676677
•
Finding
OMIM®: 604370

Professional guidelines

PubMed

Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.
Sessa C, Balmaña J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, Domchek SM, Evans DG, Fischerova D, Harbeck N, Kuhl C, Lemley B, Levy-Lahad E, Lambertini M, Ledermann JA, Loibl S, Phillips KA, Paluch-Shimon S; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org
Ann Oncol 2023 Jan;34(1):33-47. Epub 2022 Oct 25 doi: 10.1016/j.annonc.2022.10.004. PMID: 36307055
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
Genotype-Phenotype Correlations in Breast Cancer.
Marotti JD, Schnitt SJ
Surg Pathol Clin 2018 Mar;11(1):199-211. Epub 2017 Dec 15 doi: 10.1016/j.path.2017.09.008. PMID: 29413657

Recent clinical studies

Etiology

Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.
Sessa C, Balmaña J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, Domchek SM, Evans DG, Fischerova D, Harbeck N, Kuhl C, Lemley B, Levy-Lahad E, Lambertini M, Ledermann JA, Loibl S, Phillips KA, Paluch-Shimon S; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org
Ann Oncol 2023 Jan;34(1):33-47. Epub 2022 Oct 25 doi: 10.1016/j.annonc.2022.10.004. PMID: 36307055
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
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
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E, Eon-Marchais S, Olaso R, Renault AL, Damiola F, Dondon MG, Barjhoux L, Goidin D, Meyer V, Le Gal D, Beauvallet J, Mebirouk N, Lonjou C, Coignard J, Marcou M, Cavaciuti E, Baulard C, Bihoreau MT, Cohen-Haguenauer O, Leroux D, Penet C, Fert-Ferrer S, Colas C, Frebourg T, Eisinger F, Adenis C, Fajac A, Gladieff L, Tinat J, Floquet A, Chiesa J, Giraud S, Mortemousque I, Soubrier F, Audebert-Bellanger S, Limacher JM, Lasset C, Lejeune-Dumoulin S, Dreyfus H, Bignon YJ, Longy M, Pujol P, Venat-Bouvet L, Bonadona V, Berthet P, Luporsi E, Maugard CM, Noguès C, Delnatte C, Fricker JP, Gesta P, Faivre L, Lortholary A, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Servant N, Boland A, Mazoyer S, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F
Int J Cancer 2019 Apr 15;144(8):1962-1974. Epub 2018 Nov 13 doi: 10.1002/ijc.31921. PMID: 30303537Free PMC Article

Diagnosis

Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.
Sessa C, Balmaña J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, Domchek SM, Evans DG, Fischerova D, Harbeck N, Kuhl C, Lemley B, Levy-Lahad E, Lambertini M, Ledermann JA, Loibl S, Phillips KA, Paluch-Shimon S; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org
Ann Oncol 2023 Jan;34(1):33-47. Epub 2022 Oct 25 doi: 10.1016/j.annonc.2022.10.004. PMID: 36307055
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
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E, Eon-Marchais S, Olaso R, Renault AL, Damiola F, Dondon MG, Barjhoux L, Goidin D, Meyer V, Le Gal D, Beauvallet J, Mebirouk N, Lonjou C, Coignard J, Marcou M, Cavaciuti E, Baulard C, Bihoreau MT, Cohen-Haguenauer O, Leroux D, Penet C, Fert-Ferrer S, Colas C, Frebourg T, Eisinger F, Adenis C, Fajac A, Gladieff L, Tinat J, Floquet A, Chiesa J, Giraud S, Mortemousque I, Soubrier F, Audebert-Bellanger S, Limacher JM, Lasset C, Lejeune-Dumoulin S, Dreyfus H, Bignon YJ, Longy M, Pujol P, Venat-Bouvet L, Bonadona V, Berthet P, Luporsi E, Maugard CM, Noguès C, Delnatte C, Fricker JP, Gesta P, Faivre L, Lortholary A, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Servant N, Boland A, Mazoyer S, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F
Int J Cancer 2019 Apr 15;144(8):1962-1974. Epub 2018 Nov 13 doi: 10.1002/ijc.31921. PMID: 30303537Free 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

Air Pollution and Breast Cancer: An Examination of Modification By Underlying Familial Breast Cancer Risk.
Niehoff NM, Terry MB, Bookwalter DB, Kaufman JD, O'Brien KM, Sandler DP, White AJ
Cancer Epidemiol Biomarkers Prev 2022 Feb;31(2):422-429. Epub 2021 Dec 14 doi: 10.1158/1055-9965.EPI-21-1140. PMID: 34906967Free PMC Article
Frequency and molecular characteristics of PALB2-associated cancers in Russian patients.
Preobrazhenskaya EV, Shleykina AU, Gorustovich OA, Martianov AS, Bizin IV, Anisimova EI, Sokolova TN, Chuinyshena SA, Kuligina ES, Togo AV, Belyaev AM, Ivantsov AO, Sokolenko AP, Imyanitov EN
Int J Cancer 2021 Jan 1;148(1):203-210. Epub 2020 Oct 6 doi: 10.1002/ijc.33317. PMID: 32997802
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
Effect of BRCA2 mutation on familial breast cancer survival: A systematic review and meta-analysis.
Shao J, Yang J, Wang JN, Qiao L, Fan W, Gao QL, Feng YJ
J Huazhong Univ Sci Technolog Med Sci 2015 Oct;35(5):629-634. Epub 2015 Oct 22 doi: 10.1007/s11596-015-1481-7. PMID: 26489613

Prognosis

Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.
Matta BP, Gomes R, Mattos D, Olicio R, Nascimento CM, Ferreira GM, Brant AC, Boroni M, Furtado C, Lima V, Moreira MÂM, Dos Santos ACE
Sci Rep 2022 Nov 3;12(1):18629. doi: 10.1038/s41598-022-23012-3. PMID: 36329109Free PMC Article
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E, Eon-Marchais S, Olaso R, Renault AL, Damiola F, Dondon MG, Barjhoux L, Goidin D, Meyer V, Le Gal D, Beauvallet J, Mebirouk N, Lonjou C, Coignard J, Marcou M, Cavaciuti E, Baulard C, Bihoreau MT, Cohen-Haguenauer O, Leroux D, Penet C, Fert-Ferrer S, Colas C, Frebourg T, Eisinger F, Adenis C, Fajac A, Gladieff L, Tinat J, Floquet A, Chiesa J, Giraud S, Mortemousque I, Soubrier F, Audebert-Bellanger S, Limacher JM, Lasset C, Lejeune-Dumoulin S, Dreyfus H, Bignon YJ, Longy M, Pujol P, Venat-Bouvet L, Bonadona V, Berthet P, Luporsi E, Maugard CM, Noguès C, Delnatte C, Fricker JP, Gesta P, Faivre L, Lortholary A, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Servant N, Boland A, Mazoyer S, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F
Int J Cancer 2019 Apr 15;144(8):1962-1974. Epub 2018 Nov 13 doi: 10.1002/ijc.31921. PMID: 30303537Free 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
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
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

Clinical prediction guides

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
Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.
Matta BP, Gomes R, Mattos D, Olicio R, Nascimento CM, Ferreira GM, Brant AC, Boroni M, Furtado C, Lima V, Moreira MÂM, Dos Santos ACE
Sci Rep 2022 Nov 3;12(1):18629. doi: 10.1038/s41598-022-23012-3. PMID: 36329109Free 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
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E, Eon-Marchais S, Olaso R, Renault AL, Damiola F, Dondon MG, Barjhoux L, Goidin D, Meyer V, Le Gal D, Beauvallet J, Mebirouk N, Lonjou C, Coignard J, Marcou M, Cavaciuti E, Baulard C, Bihoreau MT, Cohen-Haguenauer O, Leroux D, Penet C, Fert-Ferrer S, Colas C, Frebourg T, Eisinger F, Adenis C, Fajac A, Gladieff L, Tinat J, Floquet A, Chiesa J, Giraud S, Mortemousque I, Soubrier F, Audebert-Bellanger S, Limacher JM, Lasset C, Lejeune-Dumoulin S, Dreyfus H, Bignon YJ, Longy M, Pujol P, Venat-Bouvet L, Bonadona V, Berthet P, Luporsi E, Maugard CM, Noguès C, Delnatte C, Fricker JP, Gesta P, Faivre L, Lortholary A, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Servant N, Boland A, Mazoyer S, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F
Int J Cancer 2019 Apr 15;144(8):1962-1974. Epub 2018 Nov 13 doi: 10.1002/ijc.31921. PMID: 30303537Free 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

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
Effect of BRCA2 mutation on familial breast cancer survival: A systematic review and meta-analysis.
Shao J, Yang J, Wang JN, Qiao L, Fan W, Gao QL, Feng YJ
J Huazhong Univ Sci Technolog Med Sci 2015 Oct;35(5):629-634. Epub 2015 Oct 22 doi: 10.1007/s11596-015-1481-7. PMID: 26489613

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