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Quoted phrase not found in phrase index: "Breast-ovarian cancer, familial, susceptibility to, 3"
Page 1
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR. Tung N, et al. Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3. Cancer. 2015. PMID: 25186627 Free article.
RESULTS: Mutations were identified in 16 genes, most frequently in BRCA1, BRCA2, CHEK2, ATM, and PALB2. Among the participants in cohort 1, 9.3% carried a BRCA1/2 mutation, 3.9% carried a mutation in another breast/ovarian cancer susceptibili …
RESULTS: Mutations were identified in 16 genes, most frequently in BRCA1, BRCA2, CHEK2, ATM, and PALB2. Among the participants in cohort 1, …
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Felicio PS, Grasel RS, Campacci N, de Paula AE, Galvão HCR, Torrezan GT, Sabato CS, Fernandes GC, Souza CP, Michelli RD, Andrade CE, Barros BDF, Matsushita MM, Revil T, Ragoussis J, Couch FJ, Hart SN, Reis RM, Melendez ME, Tonin PN, Carraro DM, Palmero EI. Felicio PS, et al. Hum Mutat. 2021 Mar;42(3):290-299. doi: 10.1002/humu.24158. Epub 2020 Dec 28. Hum Mutat. 2021. PMID: 33326660 Free PMC article.
All variants were classified using information from population and disease specific databases, in silico prediction tools and the American College of Medical Genetics and Genomics (ACMG) criteria. ...Interestingly, the variant c.149T>G in the FAN1 gene was identi …
All variants were classified using information from population and disease specific databases, in silico prediction tools and …
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Bonache S, Esteban I, Moles-Fernández A, Tenés A, Duran-Lozano L, Montalban G, Bach V, Carrasco E, Gadea N, López-Fernández A, Torres-Esquius S, Mancuso F, Caratú G, Vivancos A, Tuset N, Balmaña J, Gutiérrez-Enríquez S, Diez O. Bonache S, et al. J Cancer Res Clin Oncol. 2018 Dec;144(12):2495-2513. doi: 10.1007/s00432-018-2763-9. Epub 2018 Oct 10. J Cancer Res Clin Oncol. 2018. PMID: 30306255
METHODS: We investigated a panel of 34 known high/moderate-risk cancer genes, including 16 related to breast or ovarian cancer (BC/OC) genes, and 63 candidate genes to BC/OC in 192 clinically suspicious of hereditary breast/ovarian cancer (HBOC) …
METHODS: We investigated a panel of 34 known high/moderate-risk cancer genes, including 16 related to breast or ovarian cancer …
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe.
Marmolejo DH, Wong MYZ, Bajalica-Lagercrantz S, Tischkowitz M, Balmaña J; extended ERN-GENTURIS Thematic Group 3. Marmolejo DH, et al. Eur J Med Genet. 2021 Dec;64(12):104350. doi: 10.1016/j.ejmg.2021.104350. Epub 2021 Oct 1. Eur J Med Genet. 2021. PMID: 34606975 Review.
Hereditary breast and ovarian cancer (HBOC) is a syndrome defined by an increased risk of developing breast and/or ovarian cancer most commonly due to germline disease-causing variants in the BRCA1 and BRCA2 genes, but also other causative genes such as PALB2 …
Hereditary breast and ovarian cancer (HBOC) is a syndrome defined by an increased risk of developing breast and/or ovarian cancer …
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
Woodward ER, van Veen EM, Forde C, Harkness EF, Byers HJ, Ellingford JM, Burghel GJ, Schlech H, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ, Gareth Evans D. Woodward ER, et al. Genet Med. 2021 Oct;23(10):1969-1976. doi: 10.1038/s41436-021-01234-6. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113003 Free PMC article.
Breast cancer pathology was recorded in PALB2_PGV cases from extended families. ...PALB2 PGVs showed perfect segregation in 20/20 first-degree relatives with breast cancer, compared with 7/13 for CHEK2_1100delC (P = 0.002). CONCLUSION: PALB2 PGVs and CHEK2_11 …
Breast cancer pathology was recorded in PALB2_PGV cases from extended families. ...PALB2 PGVs showed perfect segregation in 20 …
Association of Family Cancer History With Pathogenic Variants in Specific Breast Cancer Susceptibility Genes.
Kurian AW, Abrahamse P, Ward KC, Hamilton AS, Deapen D, Berek JS, Hoang L, Yussuf A, Dolinsky J, Brown K, Slavin T, Hofer TP, Katz SJ. Kurian AW, et al. JCO Precis Oncol. 2021 Dec 22;5:PO.21.00261. doi: 10.1200/PO.21.00261. eCollection 2021. JCO Precis Oncol. 2021. PMID: 34977446 Free PMC article.
Family history was defined as strong (suggestive of PVs in high-penetrance genes such as BRCA1/2 or TP53, including male breast, ovarian, pancreatic, sarcoma, or multiple female breast cancers), moderate (any other cancer history), or none. ...H …
Family history was defined as strong (suggestive of PVs in high-penetrance genes such as BRCA1/2 or TP53, including male breast …
BRCA and PALB2 mutations in a cohort of male breast cancer with one bilateral case.
Vietri MT, Caliendo G, D'Elia G, Resse M, Casamassimi A, Minucci PB, Cioffi M, Molinari AM. Vietri MT, et al. Eur J Med Genet. 2020 Jun;63(6):103883. doi: 10.1016/j.ejmg.2020.103883. Epub 2020 Feb 11. Eur J Med Genet. 2020. PMID: 32058061
INTRODUCTION: Male Breast Cancer (MBC) is a rare disease, about 1% of all breast cancers worldwide and less than 1% of cancers occurring in men. ...A first/second degree family history of breast/ovarian and other cancers occ …
INTRODUCTION: Male Breast Cancer (MBC) is a rare disease, about 1% of all breast cancers worldwide and less than 1% of …
Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families.
Määttä KM, Nurminen R, Kankuri-Tammilehto M, Kallioniemi A, Laasanen SL, Schleutker J. Määttä KM, et al. BMC Cancer. 2017 Jul 24;17(1):496. doi: 10.1186/s12885-017-3488-x. BMC Cancer. 2017. PMID: 28738860 Free PMC article.
We analysed the role of germline EMSY variation in breast/ovarian cancer predisposition. The present study describes the first EMSY screening in patients with high familial risk for this disease. ...The deletion was absent in 897 controls (OR = …
We analysed the role of germline EMSY variation in breast/ovarian cancer predisposition. The present study describes th …
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. Rashid MU, et al. Breast Cancer Res Treat. 2017 Jan;161(2):191-201. doi: 10.1007/s10549-016-4044-0. Epub 2016 Nov 8. Breast Cancer Res Treat. 2017. PMID: 27826754
RESULTS: Three different BRCA1 LGRs were identified in Group 1 (4/120; 3.3%), two of these were novel. Exon 1-2 deletion was observed in two unrelated patients: an early-onset breast cancer patient and another bilateral breast cancer patient fro …
RESULTS: Three different BRCA1 LGRs were identified in Group 1 (4/120; 3.3%), two of these were novel. Exon 1-2 deletion was …
Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients.
Rizza R, Hackmann K, Paris I, Minucci A, De Leo R, Schrock E, Urbani A, Capoluongo E, Gelli G, Concolino P. Rizza R, et al. Mol Diagn Ther. 2019 Feb;23(1):121-126. doi: 10.1007/s40291-018-0376-2. Mol Diagn Ther. 2019. PMID: 30506513
Here, we describe two novel BRCA1 large deletions detected in Italian patients affected by hereditary breast and ovarian cancer syndrome (HBOC). METHODS: We applied an NGS pipeline with a reliable copy number variation (CNV) prediction algorithm. ...A second rearran …
Here, we describe two novel BRCA1 large deletions detected in Italian patients affected by hereditary breast and ovarian cancer syndr …
87 results