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Familial cancer of breast

MedGen UID:
87542
Concept ID:
C0346153
Neoplastic Process
Synonyms: BARD1-Related Susceptibility to Breast Cancer; CHEK2-Related Breast Cancer; CHEK2-Related Susceptibility to Breast Cancer
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Familial cancer of breast (254843006)
 
Genes (locations): AKT1 (14q32.33); ATM (11q22.3); BARD1 (2q35); BRCA1 (17q21.31); BRCA2 (13q13.1); BRIP1 (17q23.2); CASP8 (2q33.1); CDH1 (16q22.1); CHEK2 (22q12.1); ESR1 (6q25.1-25.2); HMMR (5q34); KRAS (12p12.1); NQO2 (6p25.2); PALB2 (16p12.2); PHB (17q21.33); PIK3CA (3q26.32); PPM1D (17q23.2); RAD51 (15q15.1); RAD54L (1p34.1); RB1CC1 (8q11.23); SLC22A18 (11p15.4); TP53 (17p13.1); TSG101 (11p15.1); XRCC3 (14q32.33)
Related genes: STK11, RAD51D, RAD51C, PTEN
OMIM®: 114480
Orphanet: ORPHA227535

Disease characteristics

BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The exact cancer risks differ slightly depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant. [from GeneReviews]
Authors:
Nancie Petrucelli  |  Mary B Daly  |  Tuya Pal   view full author information

Additional descriptions

From OMIM
Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement.  http://www.omim.org/entry/114480
From GHR
Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare.In its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer.In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.A small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts.  https://ghr.nlm.nih.gov/condition/breast-cancer

Clinical features

Breast carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.

Term Hierarchy

Professional guidelines

PubMed

Ann Intern Med 2014 Feb 18;160(4):I-16. doi: 10.7326/P14-9008. PMID: 24366402
Moyer VA; U.S. Preventive Services Task Force.
Ann Intern Med 2014 Feb 18;160(4):271-81. doi: 10.7326/M13-2747. PMID: 24366376
Nelson HD, Fu R, Goddard K, Mitchell JP, Okinaka-Hu L, Pappas M, Zakher B
Rockville (MD): Agency for Healthcare Research and Quality (US); 2013 Dec; PMID: 24432435Books & Documents
Berliner JL, Fay AM; Practice Issues Subcommittee of the National Society of Genetic Counselors' Familial Cancer Risk Counseling Special Interest Group.
J Genet Couns 2007 Jun;16(3):241-60. Epub 2007 May 17 doi: 10.1007/s10897-007-9090-7. PMID: 17508274
Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW; National Society of Genetic Counselors.
J Genet Couns 2004 Apr;13(2):83-114. doi: 10.1023/B:JOGC.0000018821.48330.77. PMID: 15604628

Recent clinical studies

Etiology

Rousset-Jablonski C, Gompel A
Maturitas 2017 Nov;105:69-77. Epub 2017 Aug 7 doi: 10.1016/j.maturitas.2017.08.004. PMID: 28818315
de Juan I, Palanca S, Domenech A, Feliubadaló L, Segura Á, Osorio A, Chirivella I, de la Hoya M, Sánchez AB, Infante M, Tena I, Díez O, Garcia-Casado Z, Vega A, Teulé À, Barroso A, Pérez P, Durán M, Carrasco E, Juan-Fita MJ, Murria R, Llop M, Barragan E, Izquierdo Á, Benítez J, Caldés T, Salas D, Bolufer P
Fam Cancer 2015 Dec;14(4):505-13. doi: 10.1007/s10689-015-9814-z. PMID: 26026974
Nathan P, Ahluwalia A, Chorley W
Fam Cancer 2014 Dec;13(4):591-4. doi: 10.1007/s10689-014-9737-0. PMID: 25096803
Walker MJ, Mirea L, Cooper K, Nabavi M, Glendon G, Andrulis IL, Knight JA, O'Malley FP, Chiarelli AM
Fam Cancer 2014 Jun;13(2):163-72. doi: 10.1007/s10689-013-9689-9. PMID: 24097051
Teo ZL, Sawyer SD, James PA, Mitchell G, Trainer AH, Lindeman GJ, Shackleton K, Cicciarelli L, Southey MC
Fam Cancer 2013 Dec;12(4):587-95. doi: 10.1007/s10689-013-9620-4. PMID: 23471749

Diagnosis

James PA, Sawyer S, Boyle S, Young MA, Kovalenko S, Doherty R, McKinley J, Alsop K, Beshay V, Harris M, Fox S, Lindeman GJ, Mitchell G
Fam Cancer 2015 Jun;14(2):287-95. doi: 10.1007/s10689-015-9785-0. PMID: 25678442
Nathan P, Ahluwalia A, Chorley W
Fam Cancer 2014 Dec;13(4):591-4. doi: 10.1007/s10689-014-9737-0. PMID: 25096803
Walker MJ, Mirea L, Cooper K, Nabavi M, Glendon G, Andrulis IL, Knight JA, O'Malley FP, Chiarelli AM
Fam Cancer 2014 Jun;13(2):163-72. doi: 10.1007/s10689-013-9689-9. PMID: 24097051
Teo ZL, Sawyer SD, James PA, Mitchell G, Trainer AH, Lindeman GJ, Shackleton K, Cicciarelli L, Southey MC
Fam Cancer 2013 Dec;12(4):587-95. doi: 10.1007/s10689-013-9620-4. PMID: 23471749
Han SA, Kim SW, Kang E, Park SK, Ahn SH, Lee MH, Nam SJ, Han W, Bae YT, Kim HA, Cho YU, Chang MC, Paik NS, Hwang KT, Kim SJ, Noh DY, Choi DH, Noh WC, Kim LS, Kim KS, Suh YJ, Lee JE, Jung Y, Moon BI, Yang JH, Son BH, Yom CK, Kim SY, Lee H, Jung SH; KOHBRA Research Group and the Korean Breast Cancer Society.
Fam Cancer 2013 Mar;12(1):75-81. doi: 10.1007/s10689-012-9578-7. PMID: 23131904

Therapy

Heiniger L, Butow PN, Coll J, Bullen T, Wilson J, Baylock B, Meiser B, Price MA
Fam Cancer 2015 Mar;14(1):105-15. doi: 10.1007/s10689-014-9759-7. PMID: 25283514
de Geus E, Aalfs CM, Verdam MG, de Haes HC, Smets EM
Trials 2014 Mar 20;15:86. doi: 10.1186/1745-6215-15-86. PMID: 24649895Free PMC Article
Han SA, Kim SW, Kang E, Park SK, Ahn SH, Lee MH, Nam SJ, Han W, Bae YT, Kim HA, Cho YU, Chang MC, Paik NS, Hwang KT, Kim SJ, Noh DY, Choi DH, Noh WC, Kim LS, Kim KS, Suh YJ, Lee JE, Jung Y, Moon BI, Yang JH, Son BH, Yom CK, Kim SY, Lee H, Jung SH; KOHBRA Research Group and the Korean Breast Cancer Society.
Fam Cancer 2013 Mar;12(1):75-81. doi: 10.1007/s10689-012-9578-7. PMID: 23131904
Vodermaier A, Stanton AL
Fam Cancer 2012 Dec;11(4):645-52. doi: 10.1007/s10689-012-9566-y. PMID: 22936078
Emery J, Morris H, Goodchild R, Fanshawe T, Prevost AT, Bobrow M, Kinmonth AL
Br J Cancer 2007 Aug 20;97(4):486-93. Epub 2007 Aug 14 doi: 10.1038/sj.bjc.6603897. PMID: 17700548Free PMC Article

Prognosis

de Juan I, Palanca S, Domenech A, Feliubadaló L, Segura Á, Osorio A, Chirivella I, de la Hoya M, Sánchez AB, Infante M, Tena I, Díez O, Garcia-Casado Z, Vega A, Teulé À, Barroso A, Pérez P, Durán M, Carrasco E, Juan-Fita MJ, Murria R, Llop M, Barragan E, Izquierdo Á, Benítez J, Caldés T, Salas D, Bolufer P
Fam Cancer 2015 Dec;14(4):505-13. doi: 10.1007/s10689-015-9814-z. PMID: 26026974
James PA, Sawyer S, Boyle S, Young MA, Kovalenko S, Doherty R, McKinley J, Alsop K, Beshay V, Harris M, Fox S, Lindeman GJ, Mitchell G
Fam Cancer 2015 Jun;14(2):287-95. doi: 10.1007/s10689-015-9785-0. PMID: 25678442
Walker MJ, Mirea L, Cooper K, Nabavi M, Glendon G, Andrulis IL, Knight JA, O'Malley FP, Chiarelli AM
Fam Cancer 2014 Jun;13(2):163-72. doi: 10.1007/s10689-013-9689-9. PMID: 24097051
Bielinska B, Gaj P, Kluska A, Nowakowska D, Balabas A, Dabrowska M, Niwinska A, Gruchota J, Zub R, Skasko E, Steffen J, Ostrowski J, Siedlecki JA
Fam Cancer 2013 Dec;12(4):691-8. doi: 10.1007/s10689-013-9647-6. PMID: 23657760
Teo ZL, Sawyer SD, James PA, Mitchell G, Trainer AH, Lindeman GJ, Shackleton K, Cicciarelli L, Southey MC
Fam Cancer 2013 Dec;12(4):587-95. doi: 10.1007/s10689-013-9620-4. PMID: 23471749

Clinical prediction guides

Larouche G, Chiquette J, Pelletier S, Simard J, Dorval M
Fam Cancer 2017 Jan;16(1):35-40. doi: 10.1007/s10689-016-9920-6. PMID: 27554086
James PA, Sawyer S, Boyle S, Young MA, Kovalenko S, Doherty R, McKinley J, Alsop K, Beshay V, Harris M, Fox S, Lindeman GJ, Mitchell G
Fam Cancer 2015 Jun;14(2):287-95. doi: 10.1007/s10689-015-9785-0. PMID: 25678442
Heiniger L, Butow PN, Coll J, Bullen T, Wilson J, Baylock B, Meiser B, Price MA
Fam Cancer 2015 Mar;14(1):105-15. doi: 10.1007/s10689-014-9759-7. PMID: 25283514
Bielinska B, Gaj P, Kluska A, Nowakowska D, Balabas A, Dabrowska M, Niwinska A, Gruchota J, Zub R, Skasko E, Steffen J, Ostrowski J, Siedlecki JA
Fam Cancer 2013 Dec;12(4):691-8. doi: 10.1007/s10689-013-9647-6. PMID: 23657760
Han SA, Kim SW, Kang E, Park SK, Ahn SH, Lee MH, Nam SJ, Han W, Bae YT, Kim HA, Cho YU, Chang MC, Paik NS, Hwang KT, Kim SJ, Noh DY, Choi DH, Noh WC, Kim LS, Kim KS, Suh YJ, Lee JE, Jung Y, Moon BI, Yang JH, Son BH, Yom CK, Kim SY, Lee H, Jung SH; KOHBRA Research Group and the Korean Breast Cancer Society.
Fam Cancer 2013 Mar;12(1):75-81. doi: 10.1007/s10689-012-9578-7. PMID: 23131904

Recent systematic reviews

Phi XA, Houssami N, Hooning MJ, Riedl CC, Leach MO, Sardanelli F, Warner E, Trop I, Saadatmand S, Tilanus-Linthorst MMA, Helbich TH, van den Heuvel ER, de Koning HJ, Obdeijn IM, de Bock GH
Eur J Cancer 2017 Nov;85:31-38. doi: 10.1016/j.ejca.2017.07.055. PMID: 28886475
Keeney MG, Couch FJ, Visscher DW, Lindor NM
Pathology 2017 Jun;49(4):363-370. Epub 2017 Apr 24 doi: 10.1016/j.pathol.2017.03.002. PMID: 28450088
Kim YC, Zhao L, Zhang H, Huang Y, Cui J, Xiao F, Downs B, Wang SM
Oncotarget 2016 Feb 23;7(8):9600-12. doi: 10.18632/oncotarget.7144. PMID: 26848529Free PMC Article
Shao J, Yang J, Wang JN, Qiao L, Fan W, Gao QL, Feng YJ
J Huazhong Univ Sci Technolog Med Sci 2015 Oct;35(5):629-34. Epub 2015 Oct 22 doi: 10.1007/s11596-015-1481-7. PMID: 26489613
Hilgart JS, Coles B, Iredale R
Cochrane Database Syst Rev 2012 Feb 15;(2):CD003721. doi: 10.1002/14651858.CD003721.pub3. PMID: 22336791

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