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Breast and/or ovarian cancer

MedGen UID:
808167
•Concept ID:
CN221562
•
Disease or Syndrome

Professional guidelines

PubMed

Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?
Angeli D, Salvi S, Tedaldi G
Int J Mol Sci 2020 Feb 8;21(3) doi: 10.3390/ijms21031128. PMID: 32046255Free PMC Article
Identification and management of familial breast cancer in Austria.
Singer CF, Tan YY, Rappaport C
Horm Mol Biol Clin Investig 2017 Nov 30;32(2) doi: 10.1515/hmbci-2017-0025. PMID: 29190211
Identification, genetic testing, and management of hereditary melanoma.
Leachman SA, Lucero OM, Sampson JE, Cassidy P, Bruno W, Queirolo P, Ghiorzo P
Cancer Metastasis Rev 2017 Mar;36(1):77-90. doi: 10.1007/s10555-017-9661-5. PMID: 28283772Free PMC Article

Recent clinical studies

Etiology

Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.
Dos Santos ES, Caputo SM, Castera L, Gendrot M, Briaux A, Breault M, Krieger S, Rogan PK, Mucaki EJ, Burke LJ; ENIGMA consortium, Bièche I, Houdayer C, Vaur D, Stoppa-Lyonnet D, Brown MA, Lallemand F, Rouleau E
Breast Cancer Res Treat 2018 Apr;168(2):311-325. Epub 2017 Dec 13 doi: 10.1007/s10549-017-4602-0. PMID: 29236234
Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.
Nakagomi H, Mochizuki H, Inoue M, Hirotsu Y, Amemiya K, Sakamoto I, Nakagomi S, Kubota T, Omata M
Cancer Sci 2018 Feb;109(2):453-461. Epub 2018 Jan 17 doi: 10.1111/cas.13464. PMID: 29215753Free PMC Article
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
Cock-Rada AM, Ossa CA, Garcia HI, Gomez LR
Fam Cancer 2018 Jan;17(1):23-30. doi: 10.1007/s10689-017-0004-z. PMID: 28528518
Contribution of BRCA1 large genomic rearrangements to early-onset and familial breast/ovarian cancer in Pakistan.
Rashid MU, Muhammad N, Amin A, Loya A, Hamann U
Breast Cancer Res Treat 2017 Jan;161(2):191-201. Epub 2016 Nov 8 doi: 10.1007/s10549-016-4044-0. PMID: 27826754

Diagnosis

A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
Cock-Rada AM, Ossa CA, Garcia HI, Gomez LR
Fam Cancer 2018 Jan;17(1):23-30. doi: 10.1007/s10689-017-0004-z. PMID: 28528518
Performing and Declining PGD: Accounts of Jewish Israeli Women Who Carry a BRCA1/2 Mutation or Partners of Male Mutation Carriers.
Dagan E, Birenbaum-Carmeli D, Friedman E, Feldman B
J Genet Couns 2017 Oct;26(5):1070-1079. Epub 2017 Mar 6 doi: 10.1007/s10897-017-0087-6. PMID: 28265801
Contribution of BRCA1 large genomic rearrangements to early-onset and familial breast/ovarian cancer in Pakistan.
Rashid MU, Muhammad N, Amin A, Loya A, Hamann U
Breast Cancer Res Treat 2017 Jan;161(2):191-201. Epub 2016 Nov 8 doi: 10.1007/s10549-016-4044-0. PMID: 27826754

Prognosis

From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing.
van Luttikhuizen JL, Bublitz J, Schubert S, Schmidt G, Hofmann W, Morlot S, Buurman R, Auber B, Schlegelberger B, Steinemann D
Mol Genet Genomic Med 2020 Sep;8(9):e1045. Epub 2019 Nov 13 doi: 10.1002/mgg3.1045. PMID: 31724318Free PMC Article

Clinical prediction guides

From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing.
van Luttikhuizen JL, Bublitz J, Schubert S, Schmidt G, Hofmann W, Morlot S, Buurman R, Auber B, Schlegelberger B, Steinemann D
Mol Genet Genomic Med 2020 Sep;8(9):e1045. Epub 2019 Nov 13 doi: 10.1002/mgg3.1045. PMID: 31724318Free PMC Article
Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.
Nakagomi H, Mochizuki H, Inoue M, Hirotsu Y, Amemiya K, Sakamoto I, Nakagomi S, Kubota T, Omata M
Cancer Sci 2018 Feb;109(2):453-461. Epub 2018 Jan 17 doi: 10.1111/cas.13464. PMID: 29215753Free PMC Article
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
Cock-Rada AM, Ossa CA, Garcia HI, Gomez LR
Fam Cancer 2018 Jan;17(1):23-30. doi: 10.1007/s10689-017-0004-z. PMID: 28528518
Contribution of BRCA1 large genomic rearrangements to early-onset and familial breast/ovarian cancer in Pakistan.
Rashid MU, Muhammad N, Amin A, Loya A, Hamann U
Breast Cancer Res Treat 2017 Jan;161(2):191-201. Epub 2016 Nov 8 doi: 10.1007/s10549-016-4044-0. PMID: 27826754

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    • ClinVar
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      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
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