Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2001 3
2002 3
2003 2
2004 1
2005 4
2006 10
2007 12
2008 18
2009 23
2010 14
2011 16
2012 19
2013 21
2014 13
2015 24
2016 31
2017 29
2018 42
2019 39
2020 69
2021 68
2022 67
2023 61
2024 18

Text availability

Article attribute

Article type

Publication date

Search Results

541 results

Results by year

Filters applied: . Clear all
Page 1
Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer.
Moyer CL, Ivanovich J, Gillespie JL, Doberstein R, Radke MR, Richardson ME, Kaufmann SH, Swisher EM, Goodfellow PJ. Moyer CL, et al. Cancer Res. 2020 Feb 15;80(4):857-867. doi: 10.1158/0008-5472.CAN-19-1991. Epub 2019 Dec 10. Cancer Res. 2020. PMID: 31822495 Free PMC article.

Next-generation sequencing of germline DNA in 2,160 early-onset breast cancer and 1,199 patients with ovarian cancer revealed nearly 2% of patients carry a very rare missense variant (minor allele frequency < 0.0001) in BRIP1. ...SIGNIFICANCE: Functional c

…
Next-generation sequencing of germline DNA in 2,160 early-onset breast cancer and 1,199 patients with ovarian cancer revealed …
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
Ramus SJ, Song H, Dicks E, Tyrer JP, Rosenthal AN, Intermaggio MP, Fraser L, Gentry-Maharaj A, Hayward J, Philpott S, Anderson C, Edlund CK, Conti D, Harrington P, Barrowdale D, Bowtell DD, Alsop K, Mitchell G; AOCS Study Group; Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Sieh W, McGuire V, Lester J, Bogdanova N, Dürst M, Hillemanns P; Ovarian Cancer Association Consortium; Odunsi K, Whittemore AS, Karlan BY, Dörk T, Goode EL, Menon U, Jacobs IJ, Antoniou AC, Pharoah PD, Gayther SA. Ramus SJ, et al. J Natl Cancer Inst. 2015 Aug 27;107(11):djv214. doi: 10.1093/jnci/djv214. Print 2015 Nov. J Natl Cancer Inst. 2015. PMID: 26315354 Free PMC article.
METHODS: Next generation sequencing was used to identify germline mutations in the coding regions of four candidate susceptibility genes-BRIP1, BARD1, PALB2 and NBN-in 3236 invasive EOC case patients and 3431 control patients of European origin, and in 2000 unaffected high …
METHODS: Next generation sequencing was used to identify germline mutations in the coding regions of four candidate susceptibility genes- …
Breast cancer genes: beyond BRCA1 and BRCA2.
Filippini SE, Vega A. Filippini SE, et al. Front Biosci (Landmark Ed). 2013 Jun 1;18(4):1358-72. doi: 10.2741/4185. Front Biosci (Landmark Ed). 2013. PMID: 23747889 Free article. Review.
Breast cancer (BC) is a heterogeneous disease. The majority of breast cancer cases (about 70 percent) are considered sporadic. ...In this review, we focus on the different components of familial breast cancer risk....
Breast cancer (BC) is a heterogeneous disease. The majority of breast cancer cases (about 70 percent) are considered sporadic. …
Hereditary Ovarian Carcinoma: Cancer Pathogenesis Looking beyond BRCA1 and BRCA2.
Samuel D, Diaz-Barbe A, Pinto A, Schlumbrecht M, George S. Samuel D, et al. Cells. 2022 Feb 4;11(3):539. doi: 10.3390/cells11030539. Cells. 2022. PMID: 35159349 Free PMC article. Review.
Besides BRCA1 and BRCA2, several other inheritable mutations have been identified that increase ovarian cancer risk. Surgical excision of the fallopian tubes and ovaries reduces ovarian cancer risk, but for some non-BRCA hereditary ovarian cancer mutations th …
Besides BRCA1 and BRCA2, several other inheritable mutations have been identified that increase ovarian cancer risk. Surgical excisio …
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, Miller CA, Kanchi KL, Eldred JM, Larson DE, Welch JS, You M, Ozenberger BA, Govindan R, Walter MJ, Ellis MJ, Mardis ER, Graubert TA, Dipersio JF, Ley TJ, Wilson RK, Goodfellow PJ, Raphael BJ, Chen F, Johnson KJ, Parvin JD, Ding L. Lu C, et al. Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086. Nat Commun. 2015. PMID: 26689913 Free PMC article.
Large-scale cancer sequencing data enable discovery of rare germline cancer susceptibility variants. ...Burden testing identifies 13 cancer genes with significant enrichment of rare truncations, some associated with specific cancers (for example, RAD51 …
Large-scale cancer sequencing data enable discovery of rare germline cancer susceptibility variants. ...Burden testing identif …
Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer.
Okawa Y, Iwasaki Y, Johnson TA, Ebata N, Inai C, Endo M, Maejima K, Sasagawa S, Fujita M, Matsuda K, Murakami Y, Nakamura T, Hirano S, Momozawa Y, Nakagawa H. Okawa Y, et al. J Hepatol. 2023 Feb;78(2):333-342. doi: 10.1016/j.jhep.2022.09.025. Epub 2022 Oct 13. J Hepatol. 2023. PMID: 36243179 Free article.
METHODS: We sequenced germline variants in 27 cancer-predisposing genes in 1,292 BTC cases and 37,583 controls without a personal nor family history of cancer. ...IMPACT AND IMPLICATIONS: We found that 5.5% of biliary tract cancers (BTCs) in a Japanese popula …
METHODS: We sequenced germline variants in 27 cancer-predisposing genes in 1,292 BTC cases and 37,583 controls without a personal nor …
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
Hanson H, Kulkarni A, Loong L, Kavanaugh G, Torr B, Allen S, Ahmed M, Antoniou AC, Cleaver R, Dabir T, Evans DG, Golightly E, Jewell R, Kohut K, Manchanda R, Murray A, Murray J, Ong KR, Rosenthal AN, Woodward ER, Eccles DM, Turnbull C, Tischkowitz M; Consensus meeting attendees; Lalloo F. Hanson H, et al. J Med Genet. 2023 May;60(5):417-429. doi: 10.1136/jmg-2022-108898. Epub 2022 Nov 21. J Med Genet. 2023. PMID: 36411032 Free PMC article.
Germline pathogenic variants (GPVs) in the cancer predisposition genes BRCA1, BRCA2, MLH1, MSH2, MSH6, BRIP1, PALB2, RAD51D and RAD51C are identified in approximately 15% of patients with ovarian cancer (OC). ...With expansion of genetic testing of these gene …
Germline pathogenic variants (GPVs) in the cancer predisposition genes BRCA1, BRCA2, MLH1, MSH2, MSH6, BRIP1, PALB2, RAD51D an …
The spectrum of genetic mutations in breast cancer.
Sheikh A, Hussain SA, Ghori Q, Naeem N, Fazil A, Giri S, Sathian B, Mainali P, Al Tamimi DM. Sheikh A, et al. Asian Pac J Cancer Prev. 2015;16(6):2177-85. doi: 10.7314/apjcp.2015.16.6.2177. Asian Pac J Cancer Prev. 2015. PMID: 25824734 Free article. Review.
Breast cancer is the most common malignancy in women around the world. About one in 12 women in the West develop breast cancer at some point in life. ...However, the great majority of breast cancer cases are not related to a mutated gene of high penetrance, b …
Breast cancer is the most common malignancy in women around the world. About one in 12 women in the West develop breast cancer …
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, Gibellini F, Murphy PD, Pineda-Alvarez DE, Pollevick GD, Xu Z, Richard G, Bale S, Klein RT, Hruska KS, Chung WK. Susswein LR, et al. Genet Med. 2016 Aug;18(8):823-32. doi: 10.1038/gim.2015.166. Epub 2015 Dec 17. Genet Med. 2016. PMID: 26681312 Free PMC article.
PURPOSE: Germ-line testing for panels of cancer genes using next-generation sequencing is becoming more common in clinical care. We report our experience as a clinical laboratory testing both well-established, high-risk cancer genes (e.g., BRCA1/2, MLH1, MSH2) as we …
PURPOSE: Germ-line testing for panels of cancer genes using next-generation sequencing is becoming more common in clinical care. We r …
Homologous Recombination Deficiency: Cancer Predispositions and Treatment Implications.
Toh M, Ngeow J. Toh M, et al. Oncologist. 2021 Sep;26(9):e1526-e1537. doi: 10.1002/onco.13829. Epub 2021 Jun 2. Oncologist. 2021. PMID: 34021944 Free PMC article. Review.
With the advent of whole-exome sequencing and multigene panels, PVs in other HR genes are increasingly identified among familial cancers. As such, several genes such as PALB2 are reclassified as cancer predisposition genes. But evidence for cancer risks remai …
With the advent of whole-exome sequencing and multigene panels, PVs in other HR genes are increasingly identified among familial cancers …
541 results