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BRCA2 |
Protein FULL name:
breast cancer type 2 susceptibility protein [Homo sapiens].
BRCA2 (Homo sapiens) is product of expression of BRCA2 gene.
Human diseases related to this protein:
BRCA2 is involved in:
HRR in Homo sapiens
Keywords:
FUNCTION: Involved in double-strand break repair and/or homologous recombination. May participate in S phase checkpoint activation.
SUBUNIT: Interacts with RAD51 and DSS1. Interacts with ubiquitinated FANCD2. Interacts with PALB2, enables the recombinational repair and checkpoints functions. Interacts with WDR16.
INTERACTION: P00519:ABL1; NbExp=1; IntAct=EBI-79792, EBI-375543; Q9BXW9:FANCD2; NbExp=9; IntAct=EBI-79792, EBI-359343; Q9BXW9-2:FANCD2; NbExp=2; IntAct=EBI-79792, EBI-596878; P06241:FYN; NbExp=1; IntAct=EBI-79792, EBI-515315; P62993:GRB2; NbExp=1; IntAct=EBI-79792, EBI-401755; Q06609:RAD51; NbExp=7; IntAct=EBI-79792, EBI-297202; P60896:SHFM1; NbExp=3; IntAct=EBI-79792, EBI-79819;
TISSUE SPECIFICITY: Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and spleen.
PTM: Phosphorylated by ATM upon irradiation-induced DNA damage.
POLYMORPHISM: Genetic variations in BRCA2 may underlie susceptibility to uveal melanoma [MIM:155720]. Uveal melanoma is the most common type of ocular malignant tumor, consisting of overgrowth of uveal melanocytes and often preceded by a uveal nevus.
DISEASE: Defects in BRCA2 are a cause of susceptibility to breast cancer (BC) [MIM:114480]. A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
DISEASE: Defects in BRCA2 are a cause of susceptibility to breast- ovarian cancer familial type 2 (BROVCA2) [MIM:612555]. A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.
DISEASE: Defects in BRCA2 are the cause of Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]. Fanconi anemia (FA) [MIM:227650] is an autosomal recessive disorder affecting all bone marrow elements and associated with cardiac, renal and limb malformations as well as dermal pigmentary changes.
SIMILARITY: Contains 8 BRCA2 repeats.
WEB RESOURCE: Name=Fanconi Anemia Mutation Database; [LINK]
WEB RESOURCE: Name=GeneReviews; [LINK]
WEB RESOURCE: Name=NIEHS-SNPs; [LINK]
WEB RESOURCE: Name=Wikipedia; Note=BRCA2 entry; [LINK]
| NCBI GenPept GI number(s): |
119395734 |
| Species: | Homo sapiens |
Links to other databases:
| Database | ID | Link |
| Uniprot | P51587 |
P51587 |
| PFAM: | - |
P51587 (Link - using uniprot id) |
| InterPro: | - |
P51587 (Link - using uniprot id) |
| CATH: | None | |
| SCOP: | None | |
| PDB: | - | - |
Protein sequence:
|
MPIGSKERPTFFEIFKTRCNKADLGPISLNWFEELSSEAPPYNSEPAEES EHKNNNYEPNLFKTPQRKPSYNQLASTPIIFKEQGLTLPLYQSPVKELDK FKLDLGRNVPNSRHKSLRTVKTKMDQADDVSCPLLNSCLSESPVVLQCTH VTPQRDKSVVCGSLFHTPKFVKGRQTPKHISESLGAEVDPDMSWSSSLAT PPTLSSTVLIVRNEEASETVFPHDTTANVKSYFSNHDESLKKNDRFIASV TDSENTNQREAASHGFGKTSGNSFKVNSCKDHIGKSMPNVLEDEVYETVV DTSEEDSFSLCFSKCRTKNLQKVRTSKTRKKIFHEANADECEKSKNQVKE KYSFVSEVEPNDTDPLDSNVANQKPFESGSDKISKEVVPSLACEWSQLTL SGLNGAQMEKIPLLHISSCDQNISEKDLLDTENKRKKDFLTSENSLPRIS SLPKSEKPLNEETVVNKRDEEQHLESHTDCILAVKQAISGTSPVASSFQG IKKSIFRIRESPKETFNASFSGHMTDPNFKKETEASESGLEIHTVCSQKE DSLCPNLIDNGSWPATTTQNSVALKNAGLISTLKKKTNKFIYAIHDETSY KGKKIPKDQKSELINCSAQFEANAFEAPLTFANADSGLLHSSVKRSCSQN DSEEPTLSLTSSFGTILRKCSRNETCSNNTVISQDLDYKEAKCNKEKLQL FITPEADSLSCLQEGQCENDPKSKKVSDIKEEVLAAACHPVQHSKVEYSD TDFQSQKSLLYDHENASTLILTPTSKDVLSNLVMISRGKESYKMSDKLKG NNYESDVELTKNIPMEKNQDVCALNENYKNVELLPPEKYMRVASPSRKVQ FNQNTNLRVIQKNQEETTSISKITVNPDSEELFSDNENNFVFQVANERNN LALGNTKELHETDLTCVNEPIFKNSTMVLYGDTGDKQATQVSIKKDLVYV LAEENKNSVKQHIKMTLGQDLKSDISLNIDKIPEKNNDYMNKWAGLLGPI SNHSFGGSFRTASNKEIKLSEHNIKKSKMFFKDIEEQYPTSLACVEIVNT LALDNQKKLSKPQSINTVSAHLQSSVVVSDCKNSHITPQMLFSKQDFNSN HNLTPSQKAEITELSTILEESGSQFEFTQFRKPSYILQKSTFEVPENQMT ILKTTSEECRDADLHVIMNAPSIGQVDSSKQFEGTVEIKRKFAGLLKNDC NKSASGYLTDENEVGFRGFYSAHGTKLNVSTEALQKAVKLFSDIENISEE TSAEVHPISLSSSKCHDSVVSMFKIENHNDKTVSEKNNKCQLILQNNIEM TTGTFVEEITENYKRNTENEDNKYTAASRNSHNLEFDGSDSSKNDTVCIH KDETDLLFTDQHNICLKLSGQFMKEGNTQIKEDLSDLTFLEVAKAQEACH GNTSNKEQLTATKTEQNIKDFETSDTFFQTASGKNISVAKESFNKIVNFF DQKPEELHNFSLNSELHSDIRKNKMDILSYEETDIVKHKILKESVPVGTG NQLVTFQGQPERDEKIKEPTLLGFHTASGKKVKIAKESLDKVKNLFDEKE QGTSEITSFSHQWAKTLKYREACKDLELACETIEITAAPKCKEMQNSLNN DKNLVSIETVVPPKLLSDNLCRQTENLKTSKSIFLKVKVHENVEKETAKS PATCYTNQSPYSVIENSALAFYTSCSRKTSVSQTSLLEAKKWLREGIFDG QPERINTADYVGNYLYENNSNSTIAENDKNHLSEKQDTYLSNSSMSNSYS YHSDEVYNDSGYLSKNKLDSGIEPVLKNVEDQKNTSFSKVISNVKDANAY PQTVNEDICVEELVTSSSPCKNKNAAIKLSISNSNNFEVGPPAFRIASGK IVCVSHETIKKVKDIFTDSFSKVIKENNENKSKICQTKIMAGCYEALDDS EDILHNSLDNDECSTHSHKVFADIQSEEILQHNQNMSGLEKVSKISPCDV SLETSDICKCSIGKLHKSVSSANTCGIFSTASGKSVQVSDASLQNARQVF SEIEDSTKQVFSKVLFKSNEHSDQLTREENTAIRTPEHLISQKGFSYNVV NSSAFSGFSTASGKQVSILESSLHKVKGVLEEFDLIRTEHSLHYSPTSRQ NVSKILPRVDKRNPEHCVNSEMEKTCSKEFKLSNNLNVEGGSSENNHSIK VSPYLSQFQQDKQQLVLGTKVSLVENIHVLGKEQASPKNVKMEIGKTETF SDVPVKTNIEVCSTYSKDSENYFETEAVEIAKAFMEDDELTDSKLPSHAT HSLFTCPENEEMVLSNSRIGKRRGEPLILVGEPSIKRNLLNEFDRIIENQ EKSLKASKSTPDGTIKDRRLFMHHVSLEPITCVPFRTTKERQEIQNPNFT APGQEFLSKSHLYEHLTLEKSSSNLAVSGHPFYQVSATRNEKMRHLITTG RPTKVFVPPFKTKSHFHRVEQCVRNINLEENRQKQNIDGHGSDDSKNKIN DNEIHQFNKNNSNQAAAVTFTKCEEEPLDLITSLQNARDIQDMRIKKKQR QRVFPQPGSLYLAKTSTLPRISLKAAVGGQVPSACSHKQLYTYGVSKHCI KINSKNAESFQFHTEDYFGKESLWTGKGIQLADGGWLIPSNDGKAGKEEF YRALCDTPGVDPKLISRIWVYNHYRWIIWKLAAMECAFPKEFANRCLSPE RVLLQLKYRYDTEIDRSRRSAIKKIMERDDTAAKTLVLCVSDIISLSANI SETSSNKTSSADTQKVAIIELTDGWYAVKAQLDPPLLAVLKNGRLTVGQK IILHGAELVGSPDACTPLEAPESLMLKISANSTRPARWYTKLGFFPDPRP FPLPLSSLFSDGGNVGCVDVIIQRAYPIQWMEKTSSGLYIFRNEREEEKE AAKYVEAQQKRLEALFTKIQEEFEEHEENTTKPYLPSRALTRQQVRALQD GAELYEAVKNAADPAYLEGYFSEEQLRALNNHRQMLNDKKQAQIQLEIRK AMESAEQKEQGLSRDVTTVWKLRIVSYSKKEKDSVILSIWRPSSDLYSLL TEGKRYRIYHLATSKSKSKSERANIQLAATKKTQYQQLPVSDEILFQIYQ PREPLHFSKFLDPDFQPSCSEVDLIGFVVSVVKKTGLAPFVYLSDECYNL LAIKFWIDLNEDIIKPHMLIAASNLQWRPESKSGLLTLFAGDFSVFSASP KEGHFQETFNKMKNTVENIDILCNEAENKLMHILHANDPKWSTPTKDCTS GPYTAQIIPGTGNKLLMSSPNCEIYYQSPLSLCMAKRKSVSTPVSAQMTS KSCKGEKEIDDQKNCKKRRALDFLSRLPLPPPVSPICTFVSPAAQKAFQP PRSCGTKYETPIKKKELNSPQMTPFKKFNEISLLESNSIADEELALINTQ ALLSGSTGEKQFISVSESTRTAPTSSEDYLRLKRRCTTSLIKEQESSQAS TEECEKNKQDTITTKKYI |
BRCA2 (Homo sapiens) is able to recognize following damages:
BRCA2 (Homo sapiens) belongs to following protein families:
References:
| Title | Authors | Journal |
| Identification of the breast cancer susceptibility gene BRCA2. | Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G | Nature Jan. 1, 1995 |
| The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. | Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Janecki T, Jiang P, Kehrer R, Leblanc JF, Mitchell JT, McArthur-Morrison J, Nguyen K, Peng Y, Samson C, Schroeder M, Snyder SC, Steele L, Stringfellow M, Stroup C, Swedlund B, Swense J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AK, Shizuya H, Eyfjord JE, Cannon-Albright L, Tranchant M, Labrie F, Skolnick MH, Weber B, Kamb A, Goldgar DE | Nat Genet March 1, 1996 |
| BRCA2 germline mutations in male breast cancer cases and breast cancer families. | Couch FJ, Farid LM, DeShano ML, Tavtigian SV, Calzone K, Campeau L, Peng Y, Bogden B, Chen Q, Neuhausen S, Shattuck-Eidens D, Godwin AK, Daly M, Radford DM, Sedlacek S, Rommens J, Simard J, Garber J, Merajver S, Weber BL | Nat Genet May 1, 1996 |
| BRCA2 mutations in primary breast and ovarian cancers. | Lancaster JM, Wooster R, Mangion J, Phelan CM, Cochran C, Gumbs C, Seal S, Barfoot R, Collins N, Bignell G, Patel S, Hamoudi R, Larsson C, Wiseman RW, Berchuck A, Iglehart JD, Marks JR, Ashworth A, Stratton MR, Futreal PA | Nat Genet June 1, 1996 |
| Low incidence of BRCA2 mutations in breast carcinoma and other cancers. | Teng DH, Bogden R, Mitchell J, Baumgard M, Bell R, Berry S, Davis T, Ha PC, Kehrer R, Jammulapati S, Chen Q, Offit K, Skolnick MH, Tavtigian SV, Jhanwar S, Swedlund B, Wong AK, Kamb A | Nat Genet June 1, 1996 |
| Mutation analysis in the BRCA2 gene in primary breast cancers. | Miki Y, Katagiri T, Kasumi F, Yoshimoto T, Nakamura Y | Nat Genet June 1, 1996 |
| Mutations of the BRCA2 gene in ovarian carcinomas. | Takahashi H, Chiu HC, Bandera CA, Behbakht K, Liu PC, Couch FJ, Weber BL, LiVolsi VA, Furusato M, Rebane BA, Cardonick A, Benjamin I, Morgan MA, King SA, Mikuta JJ, Rubin SC, Boyd J | Cancer Res June 15, 1996 |
| A low proportion of BRCA2 mutations in Finnish breast cancer families. | Vehmanen P, Friedman LS, Eerola H, Sarantaus L, Pyrhonen S, Ponder BA, Muhonen T, Nevanlinna H | Am J Hum Genet May 1, 1997 |
| High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. | Katagiri T, Kasumi F, Yoshimoto M, Nomizu T, Asaishi K, Abe R, Tsuchiya A, Sugano M, Takai S, Yoneda M, Fukutomi T, Nanba K, Makita M, Okazaki H, Hirata K, Okazaki M, Furutsuma Y, Morishita Y, Iino Y, Karino T, Ayabe H, Hara S, Kajiwara T, Houga S, Miki Y, et al. | J Hum Genet Jan. 1, 1998 |
| High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families. | Ganguly T, Dhulipala R, Godmilow L, Ganguly A | Hum Genet May 1, 1998 |
| Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan. | Li SS, Tseng HM, Yang TP, Liu CH, Teng SJ, Huang HW, Chen LM, Kao HW, Chen JH, Tseng JN, Chen A, Hou MF, Huang TJ, Chang HT, Mok KT, Tsai JH | Hum Genet March 1, 1999 |
| Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. | Wagner TM, Hirtenlehner K, Shen P, Moeslinger R, Muhr D, Fleischmann E, Concin H, Doeller W, Haid A, Lang AH, Mayer P, Petru E, Ropp E, Langbauer G, Kubista E, Scheiner O, Underhill P, Mountain J, Stierer M, Zielinski C, Oefner P | Hum Mol Genet March 1, 1999 |
| Germline brca2 sequence variants in patients with ocular melanoma. | Sinilnikova OM, Egan KM, Quinn JL, Boutrand L, Lenoir GM, Stoppa-Lyonnet D, Desjardins L, Levy C, Goldgar D, Gragoudas ES | Int J Cancer July 1, 1999 |
| The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes. | Gayther SA, Russell P, Harrington P, Antoniou AC, Easton DF, Ponder BA | Am J Hum Genet Oct. 1, 1999 |
| BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease. | Plaschke J, Commer T, Jacobi C, Schackert HK, Chang-Claude J | J Med Genet Sept. 1, 2000 |
| A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. | Healey CS, Dunning AM, Teare MD, Chase D, Parker L, Burn J, Chang-Claude J, Mannermaa A, Kataja V, Huntsman DG, Pharoah PD, Luben RN, Easton DF, Ponder BA | Nat Genet Nov. 1, 2000 |
| BRCA2 germline mutations in male breast cancer patients in the Polish population. | Kwiatkowska E, Teresiak M, Lamperska KM, Karczewska A, Breborowicz D, Stawicka M, Godlewski D, Krzyzosiak WJ, Mackiewicz A | Hum Mutat Jan. 1, 2001 |
| An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD). | Edwards SM, Kote-Jarai Z, Hamoudi R, Eeles RA | Hum Mutat March 1, 2001 |
| Characterization of common BRCA1 and BRCA2 variants. | Deffenbaugh AM, Frank TS, Hoffman M, Cannon-Albright L, Neuhausen SL | Genet Test Jan. 1, 2002 |
| Infrequent mutation in the BRCA2 gene in esophageal squamous cell carcinoma. | Hu N, Li G, Li WJ, Wang C, Goldstein AM, Tang ZZ, Roth MJ, Dawsey SM, Huang J, Wang QH, Ding T, Giffen C, Taylor PR, Emmert-Buck MR | Clin Cancer Res April 1, 2002 |
| Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer. | Kwiatkowska E, Teresiak M, Breborowicz D, Mackiewicz A | Int J Cancer April 20, 2002 |
| Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%. | Murphy KM, Brune KA, Griffin C, Sollenberger JE, Petersen GM, Bansal R, Hruban RH, Kern SE | Cancer Res July 1, 2002 |
| Biallelic inactivation of BRCA2 in Fanconi anemia. | Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, Persky N, Grompe M, Joenje H, Pals G, Ikeda H, Fox EA, D'Andrea AD | Science July 26, 2002 |
| BRCA2 T2722R is a deleterious allele that causes exon skipping. | Fackenthal JD, Cartegni L, Krainer AR, Olopade OI | Am J Hum Genet Sept. 1, 2002 |
| BRCA2 gene mutations in families with aggregations of breast and stomach cancers. | Jakubowska A, Nej K, Huzarski T, Scott RJ, Lubinski J | Br J Cancer Oct. 7, 2002 |
| Insights into DNA recombination from the structure of a RAD51-BRCA2 complex. | Pellegrini L, Yu DS, Lo T, Anand S, Lee M, Blundell TL, Venkitaraman AR | Nature Nov. 21, 2002 |
| BRCA1 and BRCA2 sequence variants in Chinese breast cancer families. | Zhi X, Szabo C, Chopin S, Suter N, Wang QS, Ostrander EA, Sinilnikova OM, Lenoir GM, Goldgar D, Shi YR | Hum Mutat Dec. 1, 2002 |
| BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. | Ruiz-Flores P, Sinilnikova OM, Badzioch M, Calderon-Garciduenas AL, Chopin S, Fabrice O, Gonzalez-Guerrero JF, Szabo C, Lenoir G, Goldgar DE, Barrera-Saldana HA | Hum Mutat Dec. 1, 2002 |
| BRCA1 and BRCA2 in Indian breast cancer patients. | Saxena S, Szabo CI, Chopin S, Barjhoux L, Sinilnikova O, Lenoir G, Goldgar DE, Bhatanager D | Hum Mutat Dec. 1, 2002 |
| BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer. | Hadjisavvas A, Charalambous E, Adamou A, Christodoulou CG, Kyriacou K | Hum Mutat Jan. 1, 2003 |
| Evaluation of the diagnostic accuracy of the stop codon (SC) assay for identifying protein-truncating mutations in the BRCA1and BRCA2genes in familial breast cancer. | Sakayori M, Kawahara M, Shiraishi K, Nomizu T, Shimada A, Kudo T, Abe R, Ohuchi N, Takenoshita S, Kanamaru R, Ishioka C | J Hum Genet Jan. 1, 2003 |
| BRCA2 germline mutations in familial pancreatic carcinoma. | Hahn SA, Greenhalf B, Ellis I, Sina-Frey M, Rieder H, Korte B, Gerdes B, Kress R, Ziegler A, Raeburn JA, Campra D, Grutzmann R, Rehder H, Rothmund M, Schmiegel W, Neoptolemos JP, Bartsch DK | J Natl Cancer Inst Jan. 5, 2003 |
| Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. | Meyer P, Voigtlaender T, Bartram CR, Klaes R | Hum Mutat Sept. 1, 2003 |
| One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden. | Malander S, Ridderheim M, Masback A, Loman N, Kristoffersson U, Olsson H, Nilbert M, Borg A | Eur J Cancer Jan. 1, 2004 |
| Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. | Valarmathi MT, Sawhney M, Deo SS, Shukla NK, Das SN | Hum Mutat Jan. 1, 2004 |
| BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families. | Claes K, Poppe B, Coene I, Paepe AD, Messiaen L | Br J Cancer March 22, 2004 |
| The DNA sequence and analysis of human chromosome 13. | Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ, Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD, Andrews DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Bannerjee R, Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burrill W, Carder C, Carter NP, Chapman JC, Clamp ME, Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins JE, Corby N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl ME, Ellington AG, Faulkner L, Frankish AG, Frankland J, French L, Garner P, Garnett J, Gilbert JG, Gilson CJ, Ghori J, Grafham DV, Gribble SM, Griffiths C, Hall RE, Hammond S, Harley JL, Hart EA, Heath PD, Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson C, Johnson D, Kay M, Kimberley AM, King A, Laird GK, Langford CJ, Lawlor S, Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne S, Moore MJ, Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R, Skuce CD, Smith M, Steward CA, Sycamore N, Tester J, Thomas DW, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Wilming L, Wray PW, Wright MW, Young L, Coulson A, Durbin R, Hubbard T, Sulston JE, Beck S, Bentley DR, Rogers J, Ross MT | Nature April 1, 2004 |
| Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. | Hirsch B, Shimamura A, Moreau L, Baldinger S, Hag-alshiekh M, Bostrom B, Sencer S, D'Andrea AD | Blood April 1, 2004 |
| Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation. | Hadjisavvas A, Charalambous E, Adamou A, Neuhausen SL, Christodoulou CG, Kyriacou K | Cancer Genet Cytogenet June 1, 2004 |
| Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways. | Hussain S, Wilson JB, Medhurst AL, Hejna J, Witt E, Ananth S, Davies A, Masson JY, Moses R, West SC, de Winter JP, Ashworth A, Jones NJ, Mathew CG | Hum Mol Genet June 15, 2004 |
| Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. | Wang X, Andreassen PR, D'Andrea AD | Mol Cell Biol July 1, 2004 |
| BRCA2 is ubiquitinated in vivo and interacts with USP11, a deubiquitinating enzyme that exhibits prosurvival function in the cellular response to DNA damage. | Schoenfeld AR, Apgar S, Dolios G, Wang R, Aaronson SA | Mol Cell Biol Sept. 1, 2004 |
| RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1. | Sharp A, Pichert G, Lucassen A, Eccles D | Hum Mutat Sept. 1, 2004 |
| BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer. | Seo JH, Cho DY, Ahn SH, Yoon KS, Kang CS, Cho HM, Lee HS, Choe JJ, Choi CW, Kim BS, Shin SW, Kim YH, Kim JS, Son GS, Lee JB, Koo BH | Hum Mutat Oct. 1, 2004 |
| Prevalence of BRCA2 mutations in a hospital based series of unselected breast cancer cases. | Kim SW, Lee CS, Fey JV, Borgen PI, Boyd J | J Med Genet Feb. 1, 2005 |
| WDRPUH, a novel WD-repeat-containing protein, is highly expressed in human hepatocellular carcinoma and involved in cell proliferation. | Silva FP, Hamamoto R, Nakamura Y, Furukawa Y | Neoplasia April 1, 2005 |
| Fanconi anemia complementation group D2 (FANCD2) functions independently of BRCA2- and RAD51-associated homologous recombination in response to DNA damage. | Ohashi A, Zdzienicka MZ, Chen J, Couch FJ | J Biol Chem April 15, 2005 |
| Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. | Xia B, Sheng Q, Nakanishi K, Ohashi A, Wu J, Christ N, Liu X, Jasin M, Couch FJ, Livingston DM | Mol Cell June 23, 2006 |
| Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. | Alter BP, Rosenberg PS, Brody LC | J Med Genet Feb. 1, 2007 |
| ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. | Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ | Science May 25, 2007 |
| Structural basis for recruitment of BRCA2 by PALB2. | Oliver AW, Swift S, Lord CJ, Ashworth A, Pearl LH | EMBO Rep Sept. 1, 2009 |
Last modification of this entry: June 19, 2013.
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