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Items: 1 to 20 of 94

1.

Rare loss of function variants in candidate genes and risk of colorectal cancer.

Rosenthal EA, Shirts BH, Amendola LM, Horike-Pyne M, Robertson PD, Hisama FM, Bennett RL, Dorschner MO, Nickerson DA, Stanaway IB, Nassir R, Vickers KT, Li C, Grady WM, Peters U, Jarvik GP; NHLBI GO Exome Sequencing Project.

Hum Genet. 2018 Oct;137(10):795-806. doi: 10.1007/s00439-018-1938-4. Epub 2018 Sep 28.

PMID:
30267214
2.

Mutation status of RAD51C, PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations.

Sato K, Koyasu M, Nomura S, Sato Y, Kita M, Ashihara Y, Adachi Y, Ohno S, Iwase T, Kitagawa D, Nakashima E, Yoshida R, Miki Y, Arai M.

Cancer Sci. 2017 Nov;108(11):2287-2294. doi: 10.1111/cas.13350. Epub 2017 Sep 18.

3.

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

Weber-Lassalle N, Hauke J, Ramser J, Richters L, Groß E, Blümcke B, Gehrig A, Kahlert AK, Müller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmüller J, Neidhardt G, Nürnberg P, Klaschik K, Schroeder C, Platzer K, Volk AE, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.

Breast Cancer Res. 2018 Jan 24;20(1):7. doi: 10.1186/s13058-018-0935-9.

4.

Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.

Broderick P, Dobbins SE, Chubb D, Kinnersley B, Dunlop MG, Tomlinson I, Houlston RS.

Gastroenterology. 2017 Jan;152(1):75-77.e4. doi: 10.1053/j.gastro.2016.09.041. Epub 2016 Oct 3. Review.

5.

CASP8, XRCC1, WRN, NF2, and BRIP1 Polymorphisms Analysis Shows Their Genetic Susceptibility for Meningioma Risk and the Association with Tumor-Related Phenotype in a Chinese Population.

Huang G, Feng J, Hao S, Li D, Wang K, Wang L, Wu Z, Wan H, Zhang L, Zhang J.

World Neurosurg. 2018 Jun;114:e883-e891. doi: 10.1016/j.wneu.2018.03.108. Epub 2018 Mar 23.

PMID:
29581016
6.

Germline genetic variants in men with prostate cancer and one or more additional cancers.

Pilié PG, Johnson AM, Hanson KL, Dayno ME, Kapron AL, Stoffel EM, Cooney KA.

Cancer. 2017 Oct 15;123(20):3925-3932. doi: 10.1002/cncr.30817. Epub 2017 Jun 28.

7.

Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer.

Kim H, Cho DY, Choi DH, Jung GH, Shin I, Park W, Huh SJ, Nam SJ, Lee JE, Gil WH, Kim SW.

Cancer Res Treat. 2016 Jul;48(3):955-61. doi: 10.4143/crt.2015.191. Epub 2016 Jan 19.

8.

Mutation analysis of BRIP1/BACH1 in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives.

Cao AY, Huang J, Hu Z, Li WF, Ma ZL, Tang LL, Zhang B, Su FX, Zhou J, Di GH, Shen KW, Wu J, Lu JS, Luo JM, Yuan WT, Shen ZZ, Huang W, Shao ZM.

Breast Cancer Res Treat. 2009 May;115(1):51-5. doi: 10.1007/s10549-008-0052-z. Epub 2008 May 16.

PMID:
18483852
9.

Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families.

Guénard F, Labrie Y, Ouellette G, Joly Beauparlant C, Simard J, Durocher F; INHERIT BRCAs.

J Hum Genet. 2008;53(7):579-91. doi: 10.1007/s10038-008-0285-z. Epub 2008 Apr 15.

PMID:
18414782
10.

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.

Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR, Rahman N.

Nat Genet. 2006 Nov;38(11):1239-41. Epub 2006 Oct 8.

PMID:
17033622
11.

The role of germline alterations in the DNA damage response genes BRIP1 and BRCA2 in melanoma susceptibility.

Tuominen R, Engström PG, Helgadottir H, Eriksson H, Unneberg P, Kjellqvist S, Yang M, Lindén D, Edsgärd D, Hansson J, Höiom V.

Genes Chromosomes Cancer. 2016 Jul;55(7):601-11. doi: 10.1002/gcc.22363. Epub 2016 May 2.

PMID:
27074266
12.

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

Esteban-Jurado C, Franch-Expósito S, Muñoz J, Ocaña T, Carballal S, López-Cerón M, Cuatrecasas M, Vila-Casadesús M, Lozano JJ, Serra E, Beltran S, Brea-Fernández A, Ruiz-Ponte C, Castells A, Bujanda L, Garre P, Caldés T, Cubiella J, Balaguer F, Castellví-Bel S.

Eur J Hum Genet. 2016 Oct;24(10):1501-5. doi: 10.1038/ejhg.2016.44. Epub 2016 May 11.

13.

Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer.

Park JS, Lee ST, Nam EJ, Han JW, Lee JY, Kim J, Kim TI, Park HS.

BMC Cancer. 2018 Jan 16;18(1):83. doi: 10.1186/s12885-017-3940-y.

14.

Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

Dobbins SE, Broderick P, Chubb D, Kinnersley B, Sherborne AL, Houlston RS.

Fam Cancer. 2016 Oct;15(4):593-9. doi: 10.1007/s10689-016-9914-4.

15.

Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

Broderick P, Bagratuni T, Vijayakrishnan J, Lubbe S, Chandler I, Houlston RS.

BMC Cancer. 2006 Oct 9;6:243.

16.

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.

J Natl Cancer Inst. 2015 Aug 27;107(11). pii: djv214. doi: 10.1093/jnci/djv214. Print 2015 Nov.

17.

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.

Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, Pertesi M, Voegele C, Mebirouk N, Robinot N, Durand G, Forey N, Luben RN, Ahmed S, Aittomäki K, Anton-Culver H, Arndt V; Australian Ovarian Cancer Study Group, Baynes C, Beckman MW, Benitez J, Van Den Berg D, Blot WJ, Bogdanova NV, Bojesen SE, Brenner H, Chang-Claude J, Chia KS, Choi JY, Conroy DM, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Eriksson M, Fasching PA, Figueroa J, Flyger H, Fostira F, García-Closas M, Giles GG, Glendon G, González-Neira A, Guénel P, Haiman CA, Hall P, Hart SN, Hartman M, Hooning MJ, Hsiung CN, Ito H, Jakubowska A, James PA, John EM, Johnson N, Jones M, Kabisch M, Kang D; kConFab Investigators, Kosma VM, Kristensen V, Lambrechts D, Li N; Lifepool Investigators, Lindblom A, Long J, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Matsuo K, Meindl A, Mitchell G, Muir K; NBCS Investigators, Nevelsteen I, van den Ouweland A, Peterlongo P, Phuah SY, Pylkäs K, Rowley SM, Sangrajrang S, Schmutzler RK, Shen CY, Shu XO, Southey MC, Surowy H, Swerdlow A, Teo SH, Tollenaar RA, Tomlinson I, Torres D, Truong T, Vachon C, Verhoef S, Wong-Brown M, Zheng W, Zheng Y, Nevanlinna H, Scott RJ, Andrulis IL, Wu AH, Hopper JL, Couch FJ, Winqvist R, Burwinkel B, Sawyer EJ, Schmidt MK, Rudolph A, Dörk T, Brauch H, Hamann U, Neuhausen SL, Milne RL, Fletcher O, Pharoah PD, Campbell IG, Dunning AM, Le Calvez-Kelm F, Goldgar DE, Tavtigian SV, Chenevix-Trench G.

J Med Genet. 2016 May;53(5):298-309. doi: 10.1136/jmedgenet-2015-103529. Epub 2016 Feb 26.

18.

Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.

García MJ, Fernández V, Osorio A, Barroso A, Fernández F, Urioste M, Benítez J.

Carcinogenesis. 2009 Nov;30(11):1898-902. doi: 10.1093/carcin/bgp218. Epub 2009 Sep 8.

PMID:
19737859
19.

Rare germline mutations in African American men diagnosed with early-onset prostate cancer.

Beebe-Dimmer JL, Zuhlke KA, Johnson AM, Liesman D, Cooney KA.

Prostate. 2018 Apr;78(5):321-326. doi: 10.1002/pros.23464. Epub 2018 Jan 21.

20.

Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.

Zhang JX, Fu L, de Voer RM, Hahn MM, Jin P, Lv CX, Verwiel ET, Ligtenberg MJ, Hoogerbrugge N, Kuiper RP, Sheng JQ, Geurts van Kessel A.

World J Gastroenterol. 2015 Apr 14;21(14):4136-49. doi: 10.3748/wjg.v21.i14.4136.

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