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BRCA2 (breast cancer 2, early onset)

Written2010-03Frédéric Guénard, Francine Durocher
Cancer Genomics Laboratory, Oncology, Molecular Endocrinology Research Centre, CRCHUL, CHUQ, Laval University, Quebec, G1V 4G2, Canada

(Note : for Links provided by Atlas : click)


HGNC Alias symbFAD
HGNC Alias nameBRCA1/BRCA2-containing complex, subunit 2
HGNC Previous nameFANCD1
HGNC Previous nameFanconi anemia, complementation group D1
 breast cancer 2, early onset
 breast cancer 2
LocusID (NCBI) 675
Atlas_Id 164
Location 13q13.1  [Link to chromosome band 13q13]
Location_base_pair Starts at 32315480 and ends at 32399672 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping BRCA2.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BRCA2 (13q13.1)::N4BP2L2 (13q13.1)


Description The BRCA2 gene is composed of 27 exons and spans approximately 84.2 kb of genomic DNA.
Transcription The BRCA2 gene encodes a 11386 bp mRNA transcript. Transcription site is located 227 bp upstream the first ATG of the BRCA2 ORF. The translation start site is located in exon 2.
Pseudogene No pseudogene reported.


  Structure of BRCA2. BRCA2 is a 3418 aa protein. BRC repeats: BRCA C-terminal repeats; NLS: Nuclear localization signals.
Description Human BRCA2 protein is composed of 3418 amino acids (384 kDa).
The N-terminal part of the BRCA2 protein contains a transcriptional activation domain (aa 18-105).
BRCA2 exon 11 encodes eight conserved motifs termed BRC repeats. Each of these repeats is composed of about 30 residues.
A DNA-binding domain has been located in the C-terminal region of the BRCA2 protein (aa 2478-3185). It is composed of a conserved helical domain and three OB folds.
Two nuclear localization signals (NLS) have been identified in the C-terminal region of BRCA2.
Expression BRCA2 expression is proportional to the rate of cell proliferation. Non-dividing cells do not express BRCA2 while wide expression of BRCA2 was observed in actively dividing tissues, including the epithelium of the breast during puberty and pregnancy.
The BRCA2 expression is regulated during the cell cycle, with highest expression during the S phase of the cell cycle.
Most of the BRCA2 proteins are associated to . The presence of DSS1 was demonstrated to stabilize the BRCA2 protein.
Localisation BRCA2 is a nuclear protein.
Function BRCA2 has been implicated in maintenance of genomic integrity and in the cellular response to DNA damage. The BRCA2 protein interacts with the RAD51 recombinase to regulate homologous recombination (HR). BRCA2 regulates the intracellular localization of RAD51. It also targets the RAD51 to ssDNA and inhibits dsDNA binding, thus regulating/enhancing DNA strand exchange activity of RAD51. CHEK1 and CHEK2 both phosphorylate the RAD51/BRCA2 complex and regulate the functional association of this complex in response to DNA damage.
BRCA2 is also implicated in cell cycle checkpoints. Following exposure to X-rays or UV light, cells expressing truncated BRCA2 protein exhibit arrest in the G1 and G2/M phases. BRCA2 protein plays a role in mitotic spindle assembly checkpoints through modulation of the level of spindle assembly checkpoint proteins including Aurora A and Aurora B.
A role in regulation of transcription has been attributed to BRCA2. BRCA2 binding to the DSS1 protein appears to be required for proper completion of cell division in yeast.
The BRCA2 protein demonstrated the ability to stimulate transcription. For example, exogenous expression of BRCA2 can stimulate transcription of androgen receptor-regulated genes. This function of BRCA2 is regulated by the binding of the EMSY protein to the region of BRCA2 responsible for transcriptional activation. An excess of EMSY results in silencing of BRCA2-driven transcriptional activation.
BRCA2 localizes to meiotic chromosomes during early meiotic prophase I when homologous chromosomes undergo synapsis. Moreover, BRCA2 interacts with the meiosis-specific recombinase DMC1, thus implicating BRCA2 in meiotic recombination.
Homology BRCA2 homologs have been found in a diverse range of organisms. In addition to zebrafish and C. elegans, homologs exist in diverse eukaryotes, from plants to parasitic organisms.
Low general conservation is found in BRCA2. Higher level of homology is observed for several segments, including transactivation domain, BRC repeats and nuclear localization signals located within C-terminal region.


Germinal High risk of breast and ovarian cancer is associated with germline BRCA2 mutations. Cumulative risk of breast cancer in BRCA2 mutation carriers was estimated to 45% by the age of 70 years while ovarian cancer risk in carriers was estimated to 11%. Increased risk of several other cancers are associated with BRCA2 mutations, especially for prostate and pancreatic cancer.
Somatic Somatic mutations in BRCA2 are infrequent in sporadic breast cancer. Methylation of the BRCA2 promoter has not been detected in normal tissues nor in breast and ovarian cancers. Loss of heterozygosity at the BRCA2 locus has been frequently found in sporadic breast and ovarian tumors.

Implicated in

Entity Breast cancer
Note Informations regarding breast cancer and BRCA2 mutations and polymorphisms are available in a central repository formed by the National Human Genome Research; National Institute of Health. This repository, named Breast Cancer Information Core (BIC) - NHGRI, is available at the following address:
Disease Breast tumors in BRCA2 carriers are found at higher histologic grade (2 and 3) than sporadic tumors. Tumors from BRCA2 carriers are more commonly found to be stage IV than sporadic control tumors and BRCA2-associated breast cancer cases are more often node-positive than control breast cancer cases.
Prognosis BRCA2 mutation carriers show younger mean age at diagnosis than sporadic breast cancer cases. Bilateral breast cancer is found more commonly in BRCA2-associated breast cancer than in sporadic breast cancer.
ER and PR expression in BRCA2 tumors are similar than in control tumors, which contrasts with ER and PR expression found in BRCA1 tumors.
Oncogenesis It was suggested that genomic rearrangements account for 7.7% of the BRCA2 mutation spectrum. Loss of the wild-type allele is not required for breast tumorigenesis in BRCA2 mutation carriers.
Somatic mutations of the BRCA2 gene are an infrequent event in sporadic breast cancer tumors. Loss of heterozygosity at the BRCA2 locus on chromosome 13q12-q13 was observed in approximately 30% of sporadic breast cancer. Methylation of the CpG dinucleotide within the BRCA2 promoter is not found in normal and neoplastic breast tissues.
Entity Male breast cancer
Note A cumulative risk of 6% and 7% of developing breast cancer by the age of 70 and 80, respectively, has been estimated for male BRCA2 mutation carriers. BRCA2 mutations have been found in 14% of familial male breast cancer and 4% of unselected male breast cancer cases.
Disease Male breast cancers are mostly ductal or unclassified carcinomas. Papillary, mucinous and lobular carcinomas each represent less than 3% of male breast cancers. Estrogen receptor and progesterone receptor expression is found in approximately 90% and 81% of male breast cancers, respectively.
Prognosis Overall survival rates for male breast cancers are lower than for female breast cancers due to the older age and more advances disease at the time of diagnosis. Male breast cancers associated with BRCA2 mutation are diagnosed at younger age than sporadic male breast cancer cases.
Entity Ovarian cancer
Note Carriers of mutations in the central portion of BRCA2, termed OCCR (ovarian cancer cluster region; aa 1012-2210), are at higher risk of ovarian cancer and lower breast cancer risk than carriers of mutations outside the OCCR.
Disease Ovarian cancer is mostly epithelial tumors (90%) and lifetime risk of ovarian cancer in the general population is estimated to be 1-1.5%. Risk of ovarian cancer in BRCA2 mutation carriers is estimated to be 10%.
Prognosis BRCA2 ovarian tumors are similar to BRCA1 ovarian tumors as these two types of tumors are more likely to be serous adenocarcinomas and higher grade than control tumors. BRCA2-associated ovarian cancers occur later in life than BRCA1-related or control ovarian tumors.
Oncogenesis Complete loss of the wild-type BRCA2-allele is observed in BRCA2-associated ovarian cancers. Loss of heterozygosity at 13q12-q14 is also observed in sporadic epithelial ovarian tumors. On the other hand, CpG dinucleotide methylation of the BRCA2 promoter is not found in sporadic ovarian cancers.
Entity Prostate cancer
Note Different studies conducted on BRCA2 mutation carriers revealed an increased risk of prostate cancer in BRCA2 mutation carriers. Relative risk associated with BRCA2 mutations is estimated to be approximately 2.5 to 5.
Protein-truncating BRCA2 mutations are associated with early-onset prostate cancer. Different studies revealed that BRCA2 mutations are responsible for less than 1% of early-onset prostate cancer in the US Caucasian population while such mutations are responsible for 2.3% of early-onset prostate cancer diagnosed in United Kingdom.
Most studies conducted on hereditary prostate cancer families did not revealed a contribution of BRCA2 truncating mutations in these families. However, a small study conducted on a limited number of families found BRCA2 mutations in two families. Incomplete segregation of the mutation with the disease was found in these families as affected brothers did not carry these mutations.
Prognosis BRCA2 mutation carriers have a significantly lower mean age at diagnosis of prostate cancer and shorter mean survival time than non-carriers. BRCA2 mutation carriers show more advanced tumor stage and higher grade at diagnosis. Prostate cancer carriers of a BRCA2 mutation show poorer survival than BRCA1 carriers. Prostate cancer patients which are carriers of the 999del5 Icelandic founder mutation appear to have worse prognosis than non-carriers of this mutation.
Histopathological features of prostate cancer in BRCA2 mutation carriers revealed that prostate cancer developed in mutation carriers show higher Gleason scores in than non-carriers.
Oncogenesis Allelic loss at the BRCA2 locus was identified in a majority of prostate tumor samples from carriers of the c.999del5 mutation, thus suggesting that no functional BRCA2 protein is found in these tumors.
Entity Stomach cancer
Note Stomach cancer was reported in family members of women with ovarian cancer carrying a BRCA2 mutation within the OCCR. On the other hand, the presence of stomach cancer in relatives of ovarian cancer cases is strongly predictive of the presence of a BRCA2 mutation. Specifically, the BRCA2 999del5 mutation is associated with an increased risk of stomach cancer in first- and second-degree relatives.
Assessment of the presence of non-breast or ovarian cancers in BRCA2 mutation carriers estimated a relative risk of stomach cancer of 2.59 to be associated with BRCA2 mutations. Meta-analysis of published studies latter confirmed increased risk of stomach cancer in BRCA2 carriers.
Entity Pharyngeal cancer
Note An increased risk of buccal cavity and pharynx cancer was suggested during the assessment of cancers other than breast and ovarian cancer in BRCA2 mutation carriers. This was thereafter confirmed in a cohort of BRCA2 mutation carriers leading to the estimation of a relative risk of 7.3 (95% CI = 2.0 - 18.6). Higher relative risk of pharyngeal cancer is found for carriers younger than 65 years old.
Entity Gallbladder and bile duct cancer
Note Evaluation of risks of cancers other than breast and ovarian cancers in BRCA2 carriers found a higher risk of gallbladder and bile duct cancer in BRCA2 carriers (RR = 4.97; 95% CI = 1.50-16.52). Specifically, the 6167delT Jewish Ashkenazi founder BRCA2 mutation was observed at significantly higher rate in bile duct cancer cases than in population controls.
Entity Colon cancer
Note It was reported that risk of colorectal cancer in first-degree relatives of BRCA2 mutation carriers affected with ovarian cancer is increased by threefold for BRCA2 mutations located within the OCCR.
Analysis of a BRCA2 mutation in different families led to the suggestion that BRCA2 mutations predispose to colon cancer. It was thereafter reported that BRCA2 mutation carriers are at increased risk of colon cancer before the age of 65 years old. The association of BRCA2 mutations with colon cancer was latter confirmed in a meta-analysis.
Entity Pancreas cancer
Note Different studies suggested that BRCA2 mutations are associated with less than 1% of sporadic pancreatic cancer in Caucasians while such mutations could account for 10% of sporadic pancreatic cancer in Ashkenazi Jewish population.
Approximately 10% of patients developing pancreatic cancer show patterns of hereditary predisposition. Screening of BRCA2 mutations in familial pancreatic cancer cases suggested that BRCA2 mutations account for 6-17% of these families. Following the identification of germline BRCA2 mutations in pancreatic cancer, it was evaluated that BRCA2 mutations confer roughly a 3.5-folds increased risk. Relative risk of pancreatic cancer was found to be higher at younger age (younger than 65 years old). Different studies evaluated the lifetime risk of pancreatic cancer in BRCA2 mutation carriers to be approximately 5%.
Prognosis Among human malignancies, pancreatic cancer has one of the worst prognoses.
Oncogenesis Pancreatic intraepithelial neoplasia (PanIN) analysis in BRCA2 mutation carriers revealed that loss of the wild type BRCA2 allele is found solely in high-grade PanIN, thus suggesting that biallelic inactivation of the BRCA2 gene is a late event in pancreatic tumorigenesis in patients with germline BRCA2 mutation.
Entity Malignant melanoma
Note BRCA2 mutation carriers were estimated to be at higher risk of developing malignant melanoma (RR = 2.58; 95% CI = 1.28-5.17). Despite many studies reported malignant melanoma in mutation carriers or in their relatives, other studies did not confirm this association.
Entity Bone cancer
Note An excess risk of bone cancer (RR = 14.4; 95% CI = 2.9 - 42.1) was observed in a cohort of BRCA2 mutation carriers from the Netherlands.
Entity Fanconi anemia (complementation group D1)
Note Biallelic mutations of the BRCA2 gene are responsible for Fanconi anemia subgroup D1 (FA-D1).
Disease Fanconi anemia (FA) is a rare recessive disease characterized by various clinical features. Many developmental defects are found in FA patients. Radial aplasia, microcephaly, microphthalmia, small stature, skin hyperpigmentation and malformation of the kidneys are encountered in FA patients. Very high frequency of bone marrow failure, leukemia and squamous cell carcinoma of the head and neck as well as gynecological squamous cell carcinoma are associated with FA. Bone marrow failure generally leads to aplastic anemia during the first decade of life. Esophageal carcinoma and liver, brain, skin and renal tumors are also found in FA patients.
Prognosis The FA-D1 and FA-N subgroups are clinically different from other FA subgroups as these subgroups are associated with increased predisposition to solid childhood malignancies such as medulloblastoma and Wilms tumor.
Cytogenetics At the cellular level, FA is a chromosomal fragility syndrome. FA cells are hypersensitive to DNA interstrand crosslinking agents such as mitomycin C, diepoxybutane and cisplatin. In addition to hypersensitivity to these agents, FA cells show an increased number of spontaneous breaks.


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PMID 15073127
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. 1996 Jun;13(2):238-40.
PMID 8640235
DSS1 is required for the stability of BRCA2.
Li J, Zou C, Bai Y, Wazer DE, Band V, Gao Q.
Oncogene. 2006 Feb 23;25(8):1186-94.
PMID 16205630
Sequence fingerprints in BRCA2 and RAD51: implications for DNA repair and cancer.
Lo T, Pellegrini L, Venkitaraman AR, Blundell TL.
DNA Repair (Amst). 2003 Sep 18;2(9):1015-28.
PMID 12967658
Prognosis and clinical presentation of BRCA2-associated breast cancer.
Loman N, Johannsson O, Bendahl P, Dahl N, Einbeigi Z, Gerdes A, Borg A, Olsson H.
Eur J Cancer. 2000 Jul;36(11):1365-73.
PMID 10899649
Pathobiologic characteristics of hereditary breast cancer.
Lynch BJ, Holden JA, Buys SS, Neuhausen SL, Gaffney DK.
Hum Pathol. 1998 Oct;29(10):1140-4.
PMID 9781655
Familial pancreatic cancer: a review.
Lynch HT, Smyrk T, Kern SE, Hruban RH, Lightdale CJ, Lemon SJ, Lynch JF, Fusaro LR, Fusaro RM, Ghadirian P.
Semin Oncol. 1996 Apr;23(2):251-75. (REVIEW)
PMID 8623061
A human BRCA2 complex containing a structural DNA binding component influences cell cycle progression.
Marmorstein LY, Kinev AV, Chan GK, Bochar DA, Beniya H, Epstein JA, Yen TJ, Shiekhattar R.
Cell. 2001 Jan 26;104(2):247-57.
PMID 11207365
Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals.
Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ, Ashworth A.
Mol Cell Biol. 1999 Jul;19(7):4633-42.
PMID 10373512
RAD-51-dependent and -independent roles of a Caenorhabditis elegans BRCA2-related protein during DNA double-strand break repair.
Martin JS, Winkelmann N, Petalcorin MI, McIlwraith MJ, Boulton SJ.
Mol Cell Biol. 2005 Apr;25(8):3127-39.
PMID 15798199
Fanconi anaemia genes and susceptibility to cancer.
Mathew CG.
Oncogene. 2006 Sep 25;25(43):5875-84. (REVIEW)
PMID 16998502
Characterization of the rat and mouse homologues of the BRCA2 breast cancer susceptibility gene.
McAllister KA, Haugen-Strano A, Hagevik S, Brownlee HA, Collins NK, Futreal PA, Bennett LM, Wiseman RW.
Cancer Res. 1997 Aug 1;57(15):3121-5.
PMID 9242436
Transcriptional activation functions in BRCA2.
Milner J, Ponder B, Hughes-Davies L, Seltmann M, Kouzarides T.
Nature. 1997 Apr 24;386(6627):772-3.
PMID 9126734
Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype.
Mitra A, Fisher C, Foster CS, Jameson C, Barbachanno Y, Bartlett J, Bancroft E, Doherty R, Kote-Jarai Z, Peock S, Easton D; IMPACT and EMBRACE Collaborators, Eeles R.
Br J Cancer. 2008 Jan 29;98(2):502-7. Epub 2008 Jan 8.
PMID 18182994
RAB22 and RAB163/mouse BRCA2: proteins that specifically interact with the RAD51 protein.
Mizuta R, LaSalle JM, Cheng HL, Shinohara A, Ogawa H, Copeland N, Jenkins NA, Lalande M, Alt FW.
Proc Natl Acad Sci U S A. 1997 Jun 24;94(13):6927-32.
PMID 9192668
BRCA2 is required for homology-directed repair of chromosomal breaks.
Moynahan ME, Pierce AJ, Jasin M.
Mol Cell. 2001 Feb;7(2):263-72.
PMID 11239455
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. 2002 Jul 1;62(13):3789-93.
PMID 12097290
BRCA1 and BRCA2: 1994 and beyond.
Narod SA, Foulkes WD.
Nat Rev Cancer. 2004 Sep;4(9):665-76. (REVIEW)
PMID 15343273
Rapid progression of prostate cancer in men with a BRCA2 mutation.
Narod SA, Neuhausen S, Vichodez G, Armel S, Lynch HT, Ghadirian P, Cummings S, Olopade O, Stoppa-Lyonnet D, Couch F, Wagner T, Warner E, Foulkes WD, Saal H, Weitzel J, Tulman A, Poll A, Nam R, Sun P; Hereditary Breast Cancer Study Group, Danquah J, Domchek S, Tung N, Ainsworth P, Horsman D, Kim-Sing C, Maugard C, Eisen A, Daly M, McKinnon W, Wood M, Isaacs C, Gilchrist D, Karlan B, Nedelcu R, Meschino W, Garber J, Pasini B, Manoukian S, Bellati C.
Br J Cancer. 2008 Jul 22;99(2):371-4. Epub 2008 Jun 24.
PMID 18577985
Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.
Offit K, Levran O, Mullaney B, Mah K, Nafa K, Batish SD, Diotti R, Schneider H, Deffenbaugh A, Scholl T, Proud VK, Robson M, Norton L, Ellis N, Hanenberg H, Auerbach AD.
J Natl Cancer Inst. 2003 Oct 15;95(20):1548-51.
PMID 14559878
Germline BRCA2 6174delT mutations in Ashkenazi Jewish pancreatic cancer patients.
Ozcelik H, Schmocker B, Di Nicola N, Shi XH, Langer B, Moore M, Taylor BR, Narod SA, Darlington G, Andrulis IL, Gallinger S, Redston M.
Nat Genet. 1997 May;16(1):17-8.
PMID 9140390
Immunohistochemical characteristics defined by tissue microarray of hereditary breast cancer not attributable to BRCA1 or BRCA2 mutations: differences from breast carcinomas arising in BRCA1 and BRCA2 mutation carriers.
Palacios J, Honrado E, Osorio A, Cazorla A, Sarrio D, Barroso A, Rodriguez S, Cigudosa JC, Diez O, Alonso C, Lerma E, Sanchez L, Rivas C, Benitez J.
Clin Cancer Res. 2003 Sep 1;9(10 Pt 1):3606-14.
PMID 14506147
Association between the BRCA2 N372H variant and male breast cancer risk: a population-based case-control study in Tuscany, Central Italy.
Palli D, Falchetti M, Masala G, Lupi R, Sera F, Saieva C, D'Amico C, Ceroti M, Rizzolo P, Caligo MA, Zanna I, Ottini L.
BMC Cancer. 2007 Sep 3;7:170.
PMID 17767707
Involvement of Brca2 in DNA repair.
Patel KJ, Yu VP, Lee H, Corcoran A, Thistlethwaite FC, Evans MJ, Colledge WH, Friedman LS, Ponder BA, Venkitaraman AR.
Mol Cell. 1998 Feb;1(3):347-57.
PMID 9660919
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. 2002 Nov 21;420(6913):287-93. Epub 2002 Nov 10.
PMID 12442171
Developmental expression of Brca2 colocalizes with Brca1 and is associated with proliferation and differentiation in multiple tissues.
Rajan JV, Marquis ST, Gardner HP, Chodosh LA.
Dev Biol. 1997 Apr 15;184(2):385-401.
PMID 9133444
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.
Reid S, Renwick A, Seal S, Baskcomb L, Barfoot R, Jayatilake H, Pritchard-Jones K, Stratton MR, Ridolfi-Luthy A, Rahman N; Breast Cancer Susceptibility Collaboration (UK); Familial Wilms Tumour Collaboration.
J Med Genet. 2005 Feb;42(2):147-51.
PMID 15689453
Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.
Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, Jack E, Vesprini DJ, Kuperstein G, Abrahamson JL, Fan I, Wong B, Narod SA.
Am J Hum Genet. 2001 Mar;68(3):700-10. Epub 2001 Feb 15.
PMID 11179017
Cancer incidence in persons with Fanconi anemia.
Rosenberg PS, Greene MH, Alter BP.
Blood. 2003 Feb 1;101(3):822-6. Epub 2002 Sep 5.
PMID 12393424
In search of the tumour-suppressor functions of BRCA1 and BRCA2.
Scully R, Livingston DM.
Nature. 2000 Nov 23;408(6811):429-32.
PMID 11100717
Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2.
Sharan SK, Morimatsu M, Albrecht U, Lim DS, Regel E, Dinh C, Sands A, Eichele G, Hasty P, Bradley A.
Nature. 1997 Apr 24;386(6627):804-10.
PMID 9126738
BRCA2 cooperates with histone acetyltransferases in androgen receptor-mediated transcription.
Shin S, Verma IM.
Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7201-6. Epub 2003 May 19.
PMID 12756300
The BRC repeats of human BRCA2 differentially regulate RAD51 binding on single- versus double-stranded DNA to stimulate strand exchange.
Shivji MK, Mukund SR, Rajendra E, Chen S, Short JM, Savill J, Klenerman D, Venkitaraman AR.
Proc Natl Acad Sci U S A. 2009 Aug 11;106(32):13254-9. Epub 2009 Jul 23.
PMID 19628690
Brca2 is involved in meiosis in Arabidopsis thaliana as suggested by its interaction with Dmc1.
Siaud N, Dray E, Gy I, Gerard E, Takvorian N, Doutriaux MP.
EMBO J. 2004 Mar 24;23(6):1392-401. Epub 2004 Mar 4.
PMID 15014444
BRCA2 mutation in Icelandic prostate cancer patients.
Sigurdsson S, Thorlacius S, Tomasson J, Tryggvadottir L, Benediktsdottir K, Eyfjord JE, Jonsson E.
J Mol Med. 1997 Oct;75(10):758-61.
PMID 9383000
BRCA1 and BRCA2 have a limited role in familial prostate cancer.
Sinclair CS, Berry R, Schaid D, Thibodeau SN, Couch FJ.
Cancer Res. 2000 Mar 1;60(5):1371-5.
PMID 10728701
Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations.
Spain BH, Larson CJ, Shihabuddin LS, Gage FH, Verma IM.
Proc Natl Acad Sci U S A. 1999 Nov 23;96(24):13920-5.
PMID 10570174
Conserved domains in the chicken homologue of BRCA2.
Takata M, Tachiiri S, Fujimori A, Thompson LH, Miki Y, Hiraoka M, Takeda S, Yamazoe M.
Oncogene. 2002 Feb 7;21(7):1130-4.
PMID 11850831
Molecular pathogenesis of Fanconi anemia: recent progress.
Taniguchi T, D'Andrea AD.
Blood. 2006 Jun 1;107(11):4223-33. Epub 2006 Feb 21. (REVIEW)
PMID 16493006
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. 1996 Mar;12(3):333-7.
PMID 8589730
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. 1996 Jun;13(2):241-4.
PMID 8640236
Variation in cancer risks, by mutation position, in BRCA2 mutation carriers.
Thompson D, Easton D; Breast Cancer Linkage Consortium.
Am J Hum Genet. 2001 Feb;68(2):410-9. Epub 2001 Jan 19.
PMID 11170890
A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes.
Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, Tulinius H, Ogmundsdottir HM, Eyfjord JE.
Nat Genet. 1996 May;13(1):117-9.
PMID 8673089
Interactions between human BRCA2 protein and the meiosis-specific recombinase DMC1.
Thorslund T, Esashi F, West SC.
EMBO J. 2007 Jun 20;26(12):2915-22. Epub 2007 May 31.
PMID 17541404
Prostate cancer progression and survival in BRCA2 mutation carriers.
Tryggvadottir L, Vidarsdottir L, Thorgeirsson T, Jonasson JG, Olafsdottir EJ, Olafsdottir GH, Rafnar T, Thorlacius S, Jonsson E, Eyfjord JE, Tulinius H.
J Natl Cancer Inst. 2007 Jun 20;99(12):929-35. Epub 2007 Jun 12.
PMID 17565157
The effect of a single BRCA2 mutation on cancer in Iceland.
Tulinius H, Olafsdottir GH, Sigvaldason H, Arason A, Barkardottir RB, Egilsson V, Ogmundsdottir HM, Tryggvadottir L, Gudlaugsdottir S, Eyfjord JE.
J Med Genet. 2002 Jul;39(7):457-62.
PMID 12114473
Cancer susceptibility and the functions of BRCA1 and BRCA2.
Venkitaraman AR.
Cell. 2002 Jan 25;108(2):171-82. (REVIEW)
PMID 11832208
Survival in hereditary breast cancer associated with germline mutations of BRCA2.
Verhoog LC, Brekelmans CT, Seynaeve C, Dahmen G, van Geel AN, Bartels CC, Tilanus-Linthorst MM, Wagner A, Devilee P, Halley DJ, van den Ouweland AM, Meijers-Heijboer EJ, Klijn JG.
J Clin Oncol. 1999 Nov;17(11):3396-402.
PMID 10550133
Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.
Wagner JE, Tolar J, Levran O, Scholl T, Deffenbaugh A, Satagopan J, Ben-Porat L, Mah K, Batish SD, Kutler DI, MacMillan ML, Hanenberg H, Auerbach AD.
Blood. 2004 Apr 15;103(8):3226-9. Epub 2004 Jan 8.
PMID 15070707
Structural analysis of the chicken BRCA2 gene facilitates identification of functional domains and disease causing mutations.
Warren M, Smith A, Partridge N, Masabanda J, Griffin D, Ashworth A.
Hum Mol Genet. 2002 Apr 1;11(7):841-51.
PMID 11929857
RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2.
Wong AK, Pero R, Ormonde PA, Tavtigian SV, Bartel PL.
J Biol Chem. 1997 Dec 19;272(51):31941-4.
PMID 9405383
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. 1995 Dec 21-28;378(6559):789-92.
PMID 8524414
Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13.
Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D, et al.
Science. 1994 Sep 30;265(5181):2088-90.
PMID 8091231
BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure.
Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, Zheng N, Chen PL, Lee WH, Pavletich NP.
Science. 2002 Sep 13;297(5588):1837-48.
PMID 12228710
Gross chromosomal rearrangements and genetic exchange between nonhomologous chromosomes following BRCA2 inactivation.
Yu VP, Koehler M, Steinlein C, Schmid M, Hanakahi LA, van Gool AJ, West SC, Venkitaraman AR.
Genes Dev. 2000 Jun 1;14(11):1400-6.
PMID 10837032
BRCA1, BRCA2, and DNA damage response: collision or collusion?
Zhang H, Tombline G, Weber BL.
Cell. 1998 Feb 20;92(4):433-6. (REVIEW)
PMID 9491884
Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium.
[No authors listed]
J Natl Cancer Inst. 1999 Aug 4;91(15):1310-6.
PMID 10433620
Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.
van Asperen CJ, Brohet RM, Meijers-Heijboer EJ, Hoogerbrugge N, Verhoef S, Vasen HF, Ausems MG, Menko FH, Gomez Garcia EB, Klijn JG, Hogervorst FB, van Houwelingen JC, van't Veer LJ, Rookus MA, van Leeuwen FE; Netherlands Collaborative Group on Hereditary Breast Cancer (HEBON).
J Med Genet. 2005 Sep;42(9):711-9.
PMID 16141007


This paper should be referenced as such :
Guénard, F ; Durocher, F
BRCA2 (breast cancer 2, early onset)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(12):1124-1131.
Free journal version : [ pdf ]   [ DOI ]

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  Therapy-Related Hematopoietic Neoplasia

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 5 ]
  Fanconi anemia Familial glioma Familial Myeloproliferative Disorders Hereditary breast cancer Hereditary pancreatic cancer

External links


HGNC (Hugo)BRCA2   1101
LRG (Locus Reference Genomic)LRG_293
Entrez_Gene (NCBI)BRCA2    BRCA2 DNA repair associated
GeneCards (Weizmann)BRCA2
Ensembl hg19 (Hinxton)ENSG00000139618 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139618 [Gene_View]  ENSG00000139618 [Sequence]  chr13:32315480-32399672 [Contig_View]  BRCA2 [Vega]
ICGC DataPortalENSG00000139618
TCGA cBioPortalBRCA2
Genatlas (Paris)BRCA2
SOURCE (Princeton)BRCA2
Genetics Home Reference (NIH)BRCA2
Genomic and cartography
GoldenPath hg38 (UCSC)BRCA2  -     chr13:32315480-32399672 +  13q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BRCA2  -     13q13.1   [Description]    (hg19-Feb_2009)
GoldenPathBRCA2 - 13q13.1 [CytoView hg19]  BRCA2 - 13q13.1 [CytoView hg38]
Genome Data Viewer NCBIBRCA2 [Mapview hg19]  
OMIM114480   155255   176807   194070   600185   605724   612555   613029   613347   
Gene and transcription
Genbank (Entrez)BC026160 BC047568 DQ897648 JX480468 JX480469
RefSeq transcript (Entrez)NM_000059
Consensus coding sequences : CCDS (NCBI)BRCA2
Gene ExpressionBRCA2 [ NCBI-GEO ]   BRCA2 [ EBI - ARRAY_EXPRESS ]   BRCA2 [ SEEK ]   BRCA2 [ MEM ]
Gene Expression Viewer (FireBrowse)BRCA2 [ Firebrowse - Broad ]
GenevisibleExpression of BRCA2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)675
GTEX Portal (Tissue expression)BRCA2
Human Protein AtlasENSG00000139618-BRCA2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51587   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51587  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51587
Domaine pattern : Prosite (Expaxy)BRCA2_REPEAT (PS50138)   
Domains : Interpro (EBI)BRCA2    BRCA2_hlx    BRCA2_hlx_sf    BRCA2_OB_1    BRCA2_OB_3    BRCA2_repeat    NA-bd_OB-fold    Tower_dom   
Domain families : Pfam (Sanger)BRCA-2_helical (PF09169)    BRCA-2_OB1 (PF09103)    BRCA-2_OB3 (PF09104)    BRCA2 (PF00634)    Tower (PF09121)   
Domain families : Pfam (NCBI)pfam09169    pfam09103    pfam09104    pfam00634    pfam09121   
Domain families : Smart (EMBL)Tower (SM01341)  
Conserved Domain (NCBI)BRCA2
PDB (RSDB)1N0W    3EU7    6GY2    6HQU   
PDB Europe1N0W    3EU7    6GY2    6HQU   
PDB (PDBSum)1N0W    3EU7    6GY2    6HQU   
PDB (IMB)1N0W    3EU7    6GY2    6HQU   
Structural Biology KnowledgeBase1N0W    3EU7    6GY2    6HQU   
SCOP (Structural Classification of Proteins)1N0W    3EU7    6GY2    6HQU   
CATH (Classification of proteins structures)1N0W    3EU7    6GY2    6HQU   
AlphaFold pdb e-kbP51587   
Human Protein Atlas [tissue]ENSG00000139618-BRCA2 [tissue]
Protein Interaction databases
IntAct (EBI)P51587
Complex Portal (EBI)P51587 CPX-955 BRCC ubiquitin ligase complex
Ontologies - Pathways
Ontology : AmiGOtelomere maintenance via recombination  double-strand break repair via homologous recombination  double-strand break repair via homologous recombination  double-strand break repair via homologous recombination  chromosome, telomeric region  lateral element  oocyte maturation  inner cell mass cell proliferation  protease binding  single-stranded DNA binding  histone acetyltransferase activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  centrosome  cytosol  nucleotide-excision repair  double-strand break repair  regulation of transcription, DNA-templated  DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator  male meiosis I  spermatogenesis  brain development  cell aging  protein C-terminus binding  female gonad development  response to X-ray  response to UV-C  response to gamma radiation  H3 histone acetyltransferase activity  H4 histone acetyltransferase activity  hemopoiesis  secretory granule  regulation of cytokinesis  protein-containing complex  BRCA2-MAGE-D1 complex  negative regulation of mammary gland epithelial cell proliferation  intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  identical protein binding  gamma-tubulin binding  histone H3 acetylation  histone H4 acetylation  positive regulation of transcription, DNA-templated  positive regulation of mitotic cell cycle  replication fork protection  centrosome duplication  establishment of protein localization to telomere  mitotic recombination-dependent replication fork processing  
Ontology : EGO-EBItelomere maintenance via recombination  double-strand break repair via homologous recombination  double-strand break repair via homologous recombination  double-strand break repair via homologous recombination  chromosome, telomeric region  lateral element  oocyte maturation  inner cell mass cell proliferation  protease binding  single-stranded DNA binding  histone acetyltransferase activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  centrosome  cytosol  nucleotide-excision repair  double-strand break repair  regulation of transcription, DNA-templated  DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator  male meiosis I  spermatogenesis  brain development  cell aging  protein C-terminus binding  female gonad development  response to X-ray  response to UV-C  response to gamma radiation  H3 histone acetyltransferase activity  H4 histone acetyltransferase activity  hemopoiesis  secretory granule  regulation of cytokinesis  protein-containing complex  BRCA2-MAGE-D1 complex  negative regulation of mammary gland epithelial cell proliferation  intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  identical protein binding  gamma-tubulin binding  histone H3 acetylation  histone H4 acetylation  positive regulation of transcription, DNA-templated  positive regulation of mitotic cell cycle  replication fork protection  centrosome duplication  establishment of protein localization to telomere  mitotic recombination-dependent replication fork processing  
Pathways : BIOCARTARole of BRCA1, BRCA2 and ATR in Cancer Susceptibility [Genes]   
Pathways : KEGGHomologous recombination    Fanconi anemia pathway    Pathways in cancer    Pancreatic cancer   
REACTOMEP51587 [protein]
REACTOME PathwaysR-HSA-912446 [pathway]   
NDEx NetworkBRCA2
Atlas of Cancer Signalling NetworkBRCA2
Wikipedia pathwaysBRCA2
Orthology - Evolution
GeneTree (enSembl)ENSG00000139618
Phylogenetic Trees/Animal Genes : TreeFamBRCA2
Homologs : HomoloGeneBRCA2
Homology/Alignments : Family Browser (UCSC)BRCA2
Gene fusions - Rearrangements
Fusion : QuiverBRCA2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBRCA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BRCA2
Exome Variant ServerBRCA2
GNOMAD BrowserENSG00000139618
Varsome BrowserBRCA2
ACMGBRCA2 variants
Genomic Variants (DGV)BRCA2 [DGVbeta]
DECIPHERBRCA2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBRCA2 
ICGC Data PortalBRCA2 
TCGA Data PortalBRCA2 
Broad Tumor PortalBRCA2
OASIS PortalBRCA2 [ Somatic mutations - Copy number]
Cancer Gene: CensusBRCA2 
Somatic Mutations in Cancer : COSMICBRCA2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DBRCA2
Mutations and Diseases : HGMDBRCA2
intOGen PortalBRCA2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)BRCA2
DoCM (Curated mutations)BRCA2
CIViC (Clinical Interpretations of Variants in Cancer)BRCA2
NCG (London)BRCA2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM114480    155255    176807    194070    600185    605724    612555    613029    613347   
Orphanet634    903    18745    3384    19054    3708    21658   
Genetic Testing Registry BRCA2
NextProtP51587 [Medical]
Target ValidationBRCA2
Huge Navigator BRCA2 [HugePedia]
ClinGenBRCA2 (curated)
Clinical trials, drugs, therapy
Protein Interactions : CTDBRCA2
Pharm GKB GenePA25412
Drug Sensitivity BRCA2
Clinical trialBRCA2
DataMed IndexBRCA2
Other databaseUMD-BRCA2 (breast cancer 2). Curators: E. Rouleau and S. Caputo
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
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