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BRCA1-related cancer predisposition

MedGen UID:
1053035
•Concept ID:
CN377757
•
Disease or Syndrome
Monarch Initiative: MONDO:0700268

Definition

Hereditary cancer predisposition due to variation(s) in the BRCA1 gene. Germline pathogenic or likely pathogenic variants in the BRCA1 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic cancer have been described. [from MONDO]

Professional guidelines

PubMed

Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing.
de la Hoya M, Osorio A, Godino J, Sulleiro S, Tosar A, Perez-Segura P, Fernandez C, Rodríguez R, Díaz-Rubio E, Benítez J, Devilee P, Caldés T
Int J Cancer 2002 Feb 1;97(4):466-71. doi: 10.1002/ijc.1627. PMID: 11802208
BRCA1-related and sporadic ovarian cancer in the same family: implications for genetic testing.
Richards WE, Gallion HH, Schmittschmitt JP, Holladay DV, Smith SA
Gynecol Oncol 1999 Dec;75(3):468-72. doi: 10.1006/gyno.1999.5645. PMID: 10600309

Recent clinical studies

Etiology

Mutations in exon region of BRCA1-related RING domain 1 gene and risk of breast cancer.
Wu J, Aini A, Ma B
Mol Genet Genomic Med 2022 Mar;10(3):e1847. Epub 2022 Jan 27 doi: 10.1002/mgg3.1847. PMID: 35084806Free PMC Article
Comprehensive Proteomic Profiling-derived Immunohistochemistry-based Prediction Models for BRCA1 and BRCA2 Germline Mutation-related Breast Carcinomas.
Vos S, Elias SG, van der Groep P, Smolders YH, van Gils CH, van Diest PJ
Am J Surg Pathol 2018 Sep;42(9):1262-1272. doi: 10.1097/PAS.0000000000001115. PMID: 29979200
Is BRCA1/BRCA2-related breast carcinogenesis estrogen dependent?
Noruzinia M, Coupier I, Pujol P
Cancer 2005 Oct 15;104(8):1567-74. doi: 10.1002/cncr.21367. PMID: 16155942
Familial breast and ovarian cancers.
Arai M, Utsunomiya J, Miki Y
Int J Clin Oncol 2004 Aug;9(4):270-82. doi: 10.1007/s10147-004-0423-3. PMID: 15375703
The influence of familial and hereditary factors on the prognosis of breast cancer.
Chappuis PO, Rosenblatt J, Foulkes WD
Ann Oncol 1999 Oct;10(10):1163-70. doi: 10.1023/a:1008301314812. PMID: 10586331

Diagnosis

HPV nonrelated endocervical adenocarcinoma in hereditary cancer syndromes.
Carnevali I, Di Lauro E, Pensotti V, Sahnane N, Leoni E, Formenti G, Ghezzi F, Sessa F, Tibiletti MG
Tumori 2020 Dec;106(6):NP67-NP72. Epub 2020 Jul 8 doi: 10.1177/0300891620936752. PMID: 32635821
Comprehensive Proteomic Profiling-derived Immunohistochemistry-based Prediction Models for BRCA1 and BRCA2 Germline Mutation-related Breast Carcinomas.
Vos S, Elias SG, van der Groep P, Smolders YH, van Gils CH, van Diest PJ
Am J Surg Pathol 2018 Sep;42(9):1262-1272. doi: 10.1097/PAS.0000000000001115. PMID: 29979200
Evidence for predictive role of BRCA1 and bTUBIII in gastric cancer.
Moiseyenko VM, Volkov NM, Suspistin EN, Yanus GA, Iyevleva AG, Kuligina ESh, Togo AV, Kornilov AV, Ivantsov AO, Imyanitov EN
Med Oncol 2013 Jun;30(2):545. Epub 2013 Mar 27 doi: 10.1007/s12032-013-0545-4. PMID: 23532817
Apparently "BRCA-related" breast and ovarian cancer patient with germline TP53 mutation.
Janavičius R, Andrėkutė K, Mickys U, Rudaitis V, Brasiūnienė B, Griškevičius L
Breast J 2011 Jul-Aug;17(4):409-15. Epub 2011 Apr 28 doi: 10.1111/j.1524-4741.2011.01088.x. PMID: 21535297
Familial breast and ovarian cancers.
Arai M, Utsunomiya J, Miki Y
Int J Clin Oncol 2004 Aug;9(4):270-82. doi: 10.1007/s10147-004-0423-3. PMID: 15375703

Therapy

Chemoprevention in BRCA1 mutation carriers (CIBRAC): protocol for an open allocation crossover feasibility trial assessing mechanisms of chemoprevention with goserelin and anastrozole versus tamoxifen and acceptability of treatment.
Campbell AM, Morris M, Gallagher R, Boyd R, Carson H, Harkin DP, Wielogorska E, Elliott C, Savage KI, McIntosh SA
BMJ Open 2018 Dec 22;8(12):e023115. doi: 10.1136/bmjopen-2018-023115. PMID: 30580266Free PMC Article
Evidence for predictive role of BRCA1 and bTUBIII in gastric cancer.
Moiseyenko VM, Volkov NM, Suspistin EN, Yanus GA, Iyevleva AG, Kuligina ESh, Togo AV, Kornilov AV, Ivantsov AO, Imyanitov EN
Med Oncol 2013 Jun;30(2):545. Epub 2013 Mar 27 doi: 10.1007/s12032-013-0545-4. PMID: 23532817
Pathological complete response after primary chemotherapy in a mother and daughter with hereditary breast carcinoma: two case reports.
Melichar B, Fridrichová P, Lukesová S, Mergancová J, Urminská H, Ryska A, Foretová L
Eur J Gynaecol Oncol 2008;29(2):188-90. PMID: 18459563
Tamoxifen and breast cancer risk in women harboring a BRCA1 germline mutation: computed efficacy, effectiveness and impact.
Eisinger F, Charafe-Jauffret E, Jacquemier J, Birnbaum D, Julian-Reynier C, Sobol H
Int J Oncol 2001 Jan;18(1):5-10. PMID: 11115532

Prognosis

Comprehensive Proteomic Profiling-derived Immunohistochemistry-based Prediction Models for BRCA1 and BRCA2 Germline Mutation-related Breast Carcinomas.
Vos S, Elias SG, van der Groep P, Smolders YH, van Gils CH, van Diest PJ
Am J Surg Pathol 2018 Sep;42(9):1262-1272. doi: 10.1097/PAS.0000000000001115. PMID: 29979200
Evidence for predictive role of BRCA1 and bTUBIII in gastric cancer.
Moiseyenko VM, Volkov NM, Suspistin EN, Yanus GA, Iyevleva AG, Kuligina ESh, Togo AV, Kornilov AV, Ivantsov AO, Imyanitov EN
Med Oncol 2013 Jun;30(2):545. Epub 2013 Mar 27 doi: 10.1007/s12032-013-0545-4. PMID: 23532817
Old and new concepts in histopathological characterization of familial breast cancer.
Mangia A, Malfettone A, Simone G, Darvishian F
Ann Oncol 2011 Jan;22 Suppl 1:i24-30. doi: 10.1093/annonc/mdq662. PMID: 21285147
Familial breast and ovarian cancers.
Arai M, Utsunomiya J, Miki Y
Int J Clin Oncol 2004 Aug;9(4):270-82. doi: 10.1007/s10147-004-0423-3. PMID: 15375703
The influence of familial and hereditary factors on the prognosis of breast cancer.
Chappuis PO, Rosenblatt J, Foulkes WD
Ann Oncol 1999 Oct;10(10):1163-70. doi: 10.1023/a:1008301314812. PMID: 10586331

Clinical prediction guides

Comprehensive Proteomic Profiling-derived Immunohistochemistry-based Prediction Models for BRCA1 and BRCA2 Germline Mutation-related Breast Carcinomas.
Vos S, Elias SG, van der Groep P, Smolders YH, van Gils CH, van Diest PJ
Am J Surg Pathol 2018 Sep;42(9):1262-1272. doi: 10.1097/PAS.0000000000001115. PMID: 29979200
Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition.
Ripamonti CB, Manoukian S, Peissel B, Azzollini J, Carcangiu ML, Radice P
Cancer Genet 2018 Feb;221:38-45. Epub 2017 Dec 29 doi: 10.1016/j.cancergen.2017.12.001. PMID: 29405995
Evidence for predictive role of BRCA1 and bTUBIII in gastric cancer.
Moiseyenko VM, Volkov NM, Suspistin EN, Yanus GA, Iyevleva AG, Kuligina ESh, Togo AV, Kornilov AV, Ivantsov AO, Imyanitov EN
Med Oncol 2013 Jun;30(2):545. Epub 2013 Mar 27 doi: 10.1007/s12032-013-0545-4. PMID: 23532817
Old and new concepts in histopathological characterization of familial breast cancer.
Mangia A, Malfettone A, Simone G, Darvishian F
Ann Oncol 2011 Jan;22 Suppl 1:i24-30. doi: 10.1093/annonc/mdq662. PMID: 21285147
Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH.
Joosse SA, van Beers EH, Tielen IH, Horlings H, Peterse JL, Hoogerbrugge N, Ligtenberg MJ, Wessels LF, Axwijk P, Verhoef S, Hogervorst FB, Nederlof PM
Breast Cancer Res Treat 2009 Aug;116(3):479-89. Epub 2008 Aug 14 doi: 10.1007/s10549-008-0117-z. PMID: 18704682

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