MCID: BRC085
MIFTS: 15

Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Categories: Rare diseases, Genetic diseases, Cancer diseases

Aliases & Classifications for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

MalaCards integrated aliases for Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

Name: Brca2 Hereditary Breast and Ovarian Cancer Syndrome 49
Familial Susceptibility to Breast-Ovarian Cancer 2 49
Brovca2 49
Hboc 49

Classifications:



Summaries for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

NIH Rare Diseases : 49 BRCA2 hereditary breast and ovarian cancersyndrome (BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. Men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer. Both men and women with BRCA2 HBOC have an elevated risk for pancreatic cancer. BRCA2 HBOC may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA2 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemopreventation and/or prophylactic surgeries. Last updated: 3/10/2015

MalaCards based summary : Brca2 Hereditary Breast and Ovarian Cancer Syndrome, also known as familial susceptibility to breast-ovarian cancer 2, is related to hereditary breast ovarian cancer syndrome and ovarian cancer. An important gene associated with Brca2 Hereditary Breast and Ovarian Cancer Syndrome is BRCA2 (BRCA2, DNA Repair Associated). Affiliated tissues include breast, prostate and skin.

Related Diseases for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Diseases related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary breast ovarian cancer syndrome 11.5
2 ovarian cancer 11.3
3 pancreatic cancer 11.3
4 breast-ovarian cancer, familial 2 11.1
5 brca1 hereditary breast and ovarian cancer syndrome 11.1

Graphical network of the top 20 diseases related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome:



Diseases related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Symptoms & Phenotypes for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Drugs & Therapeutics for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Search Clinical Trials , NIH Clinical Center for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Genetic Tests for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Anatomical Context for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

MalaCards organs/tissues related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

38
Breast, Prostate, Skin

Publications for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Articles related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

# Title Authors Year
1
BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population? ( 29161300 )
2017
2
Unpacking the blockers: understanding perceptions and social constraints of health communication in hereditary breast ovarian cancer (HBOC) susceptibility families. ( 21547418 )
2011
3
Identification of a novel mutations BRCA1*c.80 + 3del4 and BRCA2*c.6589delA in Slovak HBOC families. ( 19011960 )
2010
4
Hereditary breast and ovarian cancer (HBOC): clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome. ( 20494261 )
2010
5
Effects of the resuscitation fluid and the hemoglobin based oxygen carrier (HBOC) excipient on the toxicity of the HBOC: Ringer's D,L-lactate, Ringer's L-lactate, and Ringer's ketone solutions. ( 17090432 )
2006
6
Haemophilus influenzae type B epiglottitis after immunization with HbOC conjugate vaccine. ( 7872480 )
1994

Variations for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

ClinVar genetic disease variations for Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

6 (show top 50) (show all 2377)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRCA2 NM_000059.3(BRCA2): c.7004_7007+2delTTCGGT deletion Pathogenic rs397507890 GRCh37 Chromosome 13, 32921030: 32921035
2 BRCA2 NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs) deletion Pathogenic rs11571658 GRCh37 Chromosome 13, 32914767: 32914768
3 BRCA2 NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs) deletion Pathogenic rs80359605 GRCh37 Chromosome 13, 32915083: 32915084
4 BRCA2 NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs) deletion Pathogenic rs80359530 GRCh37 Chromosome 13, 32914214: 32914215
5 BRCA2 NM_000059.3(BRCA2): c.2808_2811del (p.Ala938Profs) deletion Pathogenic rs80359351 GRCh37 Chromosome 13, 32911300: 32911303
6 BRCA2 NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs) deletion Pathogenic rs80359550 GRCh37 Chromosome 13, 32914438: 32914438
7 BRCA2 NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs) deletion Pathogenic rs80359671 GRCh37 Chromosome 13, 32905145: 32905149
8 BRCA2 NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs) deletion Pathogenic rs80359714 GRCh37 Chromosome 13, 32945142: 32945143
9 BRCA2 NM_000059.3(BRCA2): c.8165C> G (p.Thr2722Arg) single nucleotide variant Pathogenic rs80359062 GRCh37 Chromosome 13, 32937504: 32937504
10 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
11 BRCA2 NM_000059.3(BRCA2): c.8219T> A (p.Leu2740Ter) single nucleotide variant Pathogenic rs80359070 GRCh37 Chromosome 13, 32937558: 32937558
12 BRCA2 NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter) single nucleotide variant Pathogenic rs80358695 GRCh37 Chromosome 13, 32913140: 32913140
13 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
14 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh37 Chromosome 13, 32954222: 32954222
15 BRCA2 NM_000059.3(BRCA2): c.631+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs81002897 GRCh37 Chromosome 13, 32900751: 32900751
16 BRCA2 NM_000059.3(BRCA2): c.631+2T> G single nucleotide variant Pathogenic rs81002899 GRCh37 Chromosome 13, 32900752: 32900752
17 BRCA2 NM_000059.3(BRCA2): c.9523G> T (p.Glu3175Ter) single nucleotide variant Pathogenic rs397507430 GRCh37 Chromosome 13, 32971056: 32971056
18 BRCA2 NM_000059.3(BRCA2): c.3308T> G (p.Leu1103Ter) single nucleotide variant Pathogenic rs397507305 GRCh38 Chromosome 13, 32337663: 32337663
19 BRCA2 NM_000059.3(BRCA2): c.2618_2619delTA (p.Ile873Asnfs) deletion Pathogenic rs397507290 GRCh38 Chromosome 13, 32336973: 32336974
20 BRCA2 NM_000059.3(BRCA2): c.1029delA (p.Lys343Asnfs) deletion Pathogenic rs80359260 GRCh37 Chromosome 13, 32906644: 32906644
21 BRCA2 NM_000059.3(BRCA2): c.1054dupT (p.Tyr352Leufs) duplication Pathogenic rs80359261 GRCh37 Chromosome 13, 32906669: 32906669
22 BRCA2 NM_000059.3(BRCA2): c.1156delG (p.Glu386Lysfs) deletion Pathogenic rs397507262 GRCh37 Chromosome 13, 32906771: 32906771
23 BRCA2 NM_000059.3(BRCA2): c.1189_1190ins4 insertion Pathogenic rs397515635 GRCh37 Chromosome 13, 32906804: 32906805
24 BRCA2 NM_000059.3(BRCA2): c.1205delG (p.Gly402Valfs) deletion Pathogenic rs397507265 GRCh37 Chromosome 13, 32906820: 32906820
25 BRCA2 NM_000059.3(BRCA2): c.1238delT (p.Leu413Hisfs) deletion Pathogenic rs80359271 GRCh37 Chromosome 13, 32906853: 32906853
26 BRCA2 NM_000059.3(BRCA2): c.1253C> A (p.Ser418Ter) single nucleotide variant Pathogenic rs397507266 GRCh37 Chromosome 13, 32906868: 32906868
27 BRCA2 NM_000059.3(BRCA2): c.1257delT (p.Cys419Trpfs) deletion Pathogenic rs80359272 GRCh37 Chromosome 13, 32906872: 32906872
28 BRCA2 NM_000059.3(BRCA2): c.1265delA (p.Asn422Ilefs) deletion Pathogenic rs80359273 GRCh37 Chromosome 13, 32906880: 32906880
29 BRCA2 NM_000059.3(BRCA2): c.1296_1297delGA (p.Asn433Glnfs) deletion Pathogenic rs80359276 GRCh37 Chromosome 13, 32906911: 32906912
30 BRCA2 NM_000059.3(BRCA2): c.1310_1313delAAGA (p.Lys437Ilefs) deletion Pathogenic rs80359277 GRCh37 Chromosome 13, 32906925: 32906928
31 BRCA2 NM_000059.3(BRCA2): c.1593dupA (p.Glu532Argfs) duplication Pathogenic rs397507272 GRCh37 Chromosome 13, 32907208: 32907208
32 BRCA2 NM_000059.3(BRCA2): c.1755_1759delGAAAA (p.Lys585Asnfs) deletion Pathogenic rs80359302 GRCh37 Chromosome 13, 32907370: 32907374
33 BRCA2 NM_000059.3(BRCA2): c.1796_1800delCTTAT (p.Ser599Terfs) deletion Pathogenic rs276174813 GRCh37 Chromosome 13, 32907411: 32907415
34 BRCA2 NM_000059.3(BRCA2): c.1800T> A (p.Tyr600Ter) single nucleotide variant Pathogenic rs80358464 GRCh37 Chromosome 13, 32907415: 32907415
35 BRCA2 NM_000059.3(BRCA2): c.1813dupA (p.Ile605Asnfs) duplication Pathogenic rs80359306 GRCh37 Chromosome 13, 32907428: 32907428
36 BRCA2 NM_000059.3(BRCA2): c.1813delA (p.Ile605Tyrfs) deletion Pathogenic rs80359307 GRCh37 Chromosome 13, 32907428: 32907428
37 BRCA2 NM_000059.3(BRCA2): c.1832C> A (p.Ser611Ter) single nucleotide variant Pathogenic rs80358474 GRCh37 Chromosome 13, 32907447: 32907447
38 BRCA2 NM_000059.3(BRCA2): c.1850C> A (p.Ser617Ter) single nucleotide variant Pathogenic rs397507278 GRCh37 Chromosome 13, 32907465: 32907465
39 BRCA2 NM_000059.3(BRCA2): c.1850C> G (p.Ser617Ter) single nucleotide variant Pathogenic rs397507278 GRCh37 Chromosome 13, 32907465: 32907465
40 BRCA2 NM_000059.3(BRCA2): c.1929delG (p.Arg645Glufs) deletion Pathogenic rs80359316 GRCh37 Chromosome 13, 32910421: 32910421
41 BRCA2 NM_000059.3(BRCA2): c.1970T> A (p.Leu657Ter) single nucleotide variant Pathogenic rs397507279 GRCh37 Chromosome 13, 32910462: 32910462
42 BRCA2 NM_000059.3(BRCA2): c.2036delA (p.Asn679Ilefs) deletion Pathogenic rs80359318 GRCh37 Chromosome 13, 32910528: 32910528
43 BRCA2 NM_000059.3(BRCA2): c.2092delC (p.Leu698Tyrfs) deletion Pathogenic rs80359322 GRCh37 Chromosome 13, 32910584: 32910584
44 BRCA2 NM_000059.3(BRCA2): c.2175dupA (p.Val726Serfs) duplication Pathogenic rs276174819 GRCh37 Chromosome 13, 32910667: 32910667
45 BRCA2 NM_000059.3(BRCA2): c.2231C> G (p.Ser744Ter) single nucleotide variant Pathogenic rs397507282 GRCh37 Chromosome 13, 32910723: 32910723
46 BRCA2 NM_000059.3(BRCA2): c.2409T> G (p.Tyr803Ter) single nucleotide variant Pathogenic rs80358504 GRCh37 Chromosome 13, 32910901: 32910901
47 BRCA2 NM_000059.3(BRCA2): c.2426T> G (p.Leu809Ter) single nucleotide variant Pathogenic rs397507285 GRCh37 Chromosome 13, 32910918: 32910918
48 BRCA2 NM_000059.3(BRCA2): c.2480dupA (p.Asn827Lysfs) duplication Pathogenic rs397507286 GRCh37 Chromosome 13, 32910972: 32910972
49 BRCA2 NM_000059.3(BRCA2): c.2588dupA (p.Asn863Lysfs) duplication Pathogenic rs80359335 GRCh37 Chromosome 13, 32911080: 32911080
50 BRCA2 NM_000059.3(BRCA2): c.2658_2659delTG (p.Asn886Lysfs) deletion Pathogenic rs397507291 GRCh37 Chromosome 13, 32911150: 32911151

Expression for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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Pathways for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

GO Terms for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Sources for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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