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Li-Fraumeni syndrome 2(LFS2)

MedGen UID:
322930
Concept ID:
C1836482
Disease or Syndrome
Synonyms: LFS2; Li-Fraumeni Syndrome, CHEK2-Related
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
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.
 
Gene (location): CHEK2 (22q12.1)
OMIM®: 609265

Definition

Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome.A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different. [from GHR]

Clinical features

Glioma
MedGen UID:
9030
Concept ID:
C0017638
Neoplastic Process
The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).
Stomach cancer
MedGen UID:
147066
Concept ID:
C0699791
Neoplastic Process
The stomach is an organ between the esophagus and the small intestine. It mixes food with stomach acid and helps digest protein. Stomach cancer mostly affects older people - two-thirds of people who have it are over age 65. Your risk of getting it is also higher if you. -Have had a Helicobacter pylori infection. -Have had stomach inflammation. -Are a man. -Eat lots of salted, smoked, or pickled foods . -Smoke cigarettes . -Have a family history of stomach cancer. It is hard to diagnose stomach cancer in its early stages. Indigestion and stomach discomfort can be symptoms of early cancer, but other problems can cause the same symptoms. In advanced cases, there may be blood in your stool, vomiting, unexplained weight loss, jaundice, or trouble swallowing. Doctors diagnose stomach cancer with a physical exam, blood and imaging tests, an endoscopy, and a biopsy. Because it is often found late, it can be hard to treat stomach cancer. Treatment options include surgery, chemotherapy, radiation or a combination. NIH: National Cancer Institute.
Meningioma
MedGen UID:
505374
Concept ID:
CN002583
Finding
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
Breast carcinoma
MedGen UID:
428324
Concept ID:
CN002714
Finding
The presence of a carcinoma of the breast.
Sarcoma
MedGen UID:
506452
Concept ID:
CN117138
Finding
A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.
Stomach cancer
MedGen UID:
147066
Concept ID:
C0699791
Neoplastic Process
The stomach is an organ between the esophagus and the small intestine. It mixes food with stomach acid and helps digest protein. Stomach cancer mostly affects older people - two-thirds of people who have it are over age 65. Your risk of getting it is also higher if you. -Have had a Helicobacter pylori infection. -Have had stomach inflammation. -Are a man. -Eat lots of salted, smoked, or pickled foods . -Smoke cigarettes . -Have a family history of stomach cancer. It is hard to diagnose stomach cancer in its early stages. Indigestion and stomach discomfort can be symptoms of early cancer, but other problems can cause the same symptoms. In advanced cases, there may be blood in your stool, vomiting, unexplained weight loss, jaundice, or trouble swallowing. Doctors diagnose stomach cancer with a physical exam, blood and imaging tests, an endoscopy, and a biopsy. Because it is often found late, it can be hard to treat stomach cancer. Treatment options include surgery, chemotherapy, radiation or a combination. NIH: National Cancer Institute.
Glioma
MedGen UID:
9030
Concept ID:
C0017638
Neoplastic Process
The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).
Meningioma
MedGen UID:
505374
Concept ID:
CN002583
Finding
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
Stomach cancer
MedGen UID:
147066
Concept ID:
C0699791
Neoplastic Process
The stomach is an organ between the esophagus and the small intestine. It mixes food with stomach acid and helps digest protein. Stomach cancer mostly affects older people - two-thirds of people who have it are over age 65. Your risk of getting it is also higher if you. -Have had a Helicobacter pylori infection. -Have had stomach inflammation. -Are a man. -Eat lots of salted, smoked, or pickled foods . -Smoke cigarettes . -Have a family history of stomach cancer. It is hard to diagnose stomach cancer in its early stages. Indigestion and stomach discomfort can be symptoms of early cancer, but other problems can cause the same symptoms. In advanced cases, there may be blood in your stool, vomiting, unexplained weight loss, jaundice, or trouble swallowing. Doctors diagnose stomach cancer with a physical exam, blood and imaging tests, an endoscopy, and a biopsy. Because it is often found late, it can be hard to treat stomach cancer. Treatment options include surgery, chemotherapy, radiation or a combination. NIH: National Cancer Institute.
Breast carcinoma
MedGen UID:
428324
Concept ID:
CN002714
Finding
The presence of a carcinoma of the breast.

Recent clinical studies

Etiology

Jhaveri AP, Bale A, Lovick N, Zuckerman K, Deshpande H, Rath K, Schwartz P, Hofstatter EW
Yale J Biol Med 2015 Jun;88(2):181-5. Epub 2015 Jun 1 PMID: 26029016Free PMC Article
Id Said B, Malkin D
Cancer Genet 2015 Jan-Feb;208(1-2):47-51. Epub 2014 Dec 31 doi: 10.1016/j.cancergen.2014.12.003. [Epub ahead of print] PMID: 25683625
Barbosa OV, Reiriz AB, Boff RA, Oliveira WP, Rossi L
Sao Paulo Med J 2015 Mar-Apr;133(2):151-3. Epub 2014 Sep 26 doi: 10.1590/1516-3180.2012.6740004. [Epub ahead of print] PMID: 25271877
Xu J, Qian J, Hu Y, Wang J, Zhou X, Chen H, Fang JY
Sci Rep 2014 Feb 27;4:4223. doi: 10.1038/srep04223. PMID: 24573247Free PMC Article
Mai PL, Malkin D, Garber JE, Schiffman JD, Weitzel JN, Strong LC, Wyss O, Locke L, Means V, Achatz MI, Hainaut P, Frebourg T, Evans DG, Bleiker E, Patenaude A, Schneider K, Wilfond B, Peters JA, Hwang PM, Ford J, Tabori U, Ognjanovic S, Dennis PA, Wentzensen IM, Greene MH, Fraumeni JF Jr, Savage SA
Cancer Genet 2012 Oct;205(10):479-87. Epub 2012 Aug 29 doi: 10.1016/j.cancergen.2012.06.008. [Epub ahead of print] PMID: 22939227Free PMC Article

Diagnosis

Jhaveri AP, Bale A, Lovick N, Zuckerman K, Deshpande H, Rath K, Schwartz P, Hofstatter EW
Yale J Biol Med 2015 Jun;88(2):181-5. Epub 2015 Jun 1 PMID: 26029016Free PMC Article
Ricordel C, Labalette-Tiercin M, Lespagnol A, Kerjouan M, Dugast C, Mosser J, Desrues B, Léna H
Lung Cancer 2015 Jan;87(1):80-4. Epub 2014 Nov 20 doi: 10.1016/j.lungcan.2014.11.005. [Epub ahead of print] PMID: 25433984
Barbosa OV, Reiriz AB, Boff RA, Oliveira WP, Rossi L
Sao Paulo Med J 2015 Mar-Apr;133(2):151-3. Epub 2014 Sep 26 doi: 10.1590/1516-3180.2012.6740004. [Epub ahead of print] PMID: 25271877
Serra V, Vivancos A, Puente XS, Felip E, Silberschmidt D, Caratù G, Parra JL, De Mattos-Arruda L, Grueso J, Hernández-Losa J, Arribas J, Prudkin L, Nuciforo P, Scaltriti M, Seoane J, Baselga J
Cancer Discov 2013 Nov;3(11):1238-44. Epub 2013 Aug 15 doi: 10.1158/2159-8290.CD-13-0132. [Epub ahead of print] PMID: 23950206
Mai PL, Malkin D, Garber JE, Schiffman JD, Weitzel JN, Strong LC, Wyss O, Locke L, Means V, Achatz MI, Hainaut P, Frebourg T, Evans DG, Bleiker E, Patenaude A, Schneider K, Wilfond B, Peters JA, Hwang PM, Ford J, Tabori U, Ognjanovic S, Dennis PA, Wentzensen IM, Greene MH, Fraumeni JF Jr, Savage SA
Cancer Genet 2012 Oct;205(10):479-87. Epub 2012 Aug 29 doi: 10.1016/j.cancergen.2012.06.008. [Epub ahead of print] PMID: 22939227Free PMC Article

Therapy

Walcott FL, Patel J, Lubet R, Rodriguez L, Calzone KA
Semin Oncol 2016 Feb;43(1):134-45. Epub 2015 Sep 7 doi: 10.1053/j.seminoncol.2015.09.015. [Epub ahead of print] PMID: 26970132
Barbosa OV, Reiriz AB, Boff RA, Oliveira WP, Rossi L
Sao Paulo Med J 2015 Mar-Apr;133(2):151-3. Epub 2014 Sep 26 doi: 10.1590/1516-3180.2012.6740004. [Epub ahead of print] PMID: 25271877
Jia Y, Ali SM, Saad S, Chan CA, Miller VA, Halmos B
Cancer Biol Ther 2014 Aug;15(8):970-4. Epub 2014 May 16 doi: 10.4161/cbt.29173. [Epub ahead of print] PMID: 24835218Free PMC Article
Serra V, Vivancos A, Puente XS, Felip E, Silberschmidt D, Caratù G, Parra JL, De Mattos-Arruda L, Grueso J, Hernández-Losa J, Arribas J, Prudkin L, Nuciforo P, Scaltriti M, Seoane J, Baselga J
Cancer Discov 2013 Nov;3(11):1238-44. Epub 2013 Aug 15 doi: 10.1158/2159-8290.CD-13-0132. [Epub ahead of print] PMID: 23950206
Magnusson S, Gisselsson D, Wiebe T, Kristoffersson U, Borg Å, Olsson H
Pediatr Blood Cancer 2012 Nov;59(5):846-53. Epub 2012 May 31 doi: 10.1002/pbc.24223. [Epub ahead of print] PMID: 22653678

Prognosis

Yurgelun MB, Masciari S, Joshi VA, Mercado RC, Lindor NM, Gallinger S, Hopper JL, Jenkins MA, Buchanan DD, Newcomb PA, Potter JD, Haile RW, Kucherlapati R, Syngal S; Colon Cancer Family Registry
JAMA Oncol 2015 May;1(2):214-21. doi: 10.1001/jamaoncol.2015.0197. PMID: 26086041Free PMC Article
Serra V, Vivancos A, Puente XS, Felip E, Silberschmidt D, Caratù G, Parra JL, De Mattos-Arruda L, Grueso J, Hernández-Losa J, Arribas J, Prudkin L, Nuciforo P, Scaltriti M, Seoane J, Baselga J
Cancer Discov 2013 Nov;3(11):1238-44. Epub 2013 Aug 15 doi: 10.1158/2159-8290.CD-13-0132. [Epub ahead of print] PMID: 23950206
Magnusson S, Gisselsson D, Wiebe T, Kristoffersson U, Borg Å, Olsson H
Pediatr Blood Cancer 2012 Nov;59(5):846-53. Epub 2012 May 31 doi: 10.1002/pbc.24223. [Epub ahead of print] PMID: 22653678
Heymann S, Delaloge S, Rahal A, Caron O, Frebourg T, Barreau L, Pachet C, Mathieu MC, Marsiglia H, Bourgier C
Radiat Oncol 2010 Nov 8;5:104. doi: 10.1186/1748-717X-5-104. [Epub ahead of print] PMID: 21059199Free PMC Article
Debelenko LV, Perez-Atayde AR, Dubois SG, Grier HE, Pai SY, Shamberger RC, Kozakewich HP
Pediatr Dev Pathol 2010 May-Jun;13(3):218-24. doi: 10.2350/09-08-0694-OA.1. PMID: 20028212

Clinical prediction guides

Yurgelun MB, Masciari S, Joshi VA, Mercado RC, Lindor NM, Gallinger S, Hopper JL, Jenkins MA, Buchanan DD, Newcomb PA, Potter JD, Haile RW, Kucherlapati R, Syngal S; Colon Cancer Family Registry
JAMA Oncol 2015 May;1(2):214-21. doi: 10.1001/jamaoncol.2015.0197. PMID: 26086041Free PMC Article
Magnusson S, Gisselsson D, Wiebe T, Kristoffersson U, Borg Å, Olsson H
Pediatr Blood Cancer 2012 Nov;59(5):846-53. Epub 2012 May 31 doi: 10.1002/pbc.24223. [Epub ahead of print] PMID: 22653678
Masciari S, Dillon DA, Rath M, Robson M, Weitzel JN, Balmana J, Gruber SB, Ford JM, Euhus D, Lebensohn A, Telli M, Pochebit SM, Lypas G, Garber JE
Breast Cancer Res Treat 2012 Jun;133(3):1125-30. Epub 2012 Mar 4 doi: 10.1007/s10549-012-1993-9. [Epub ahead of print] PMID: 22392042Free PMC Article
Herbert BS, Chanoux RA, Liu Y, Baenziger PH, Goswami CP, McClintick JN, Edenberg HJ, Pennington RE, Lipkin SM, Kopelovich L
Oncotarget 2010 Oct;1(6):405-22. doi: 10.18632/oncotarget.101004. PMID: 21311097Free PMC Article
Heymann S, Delaloge S, Rahal A, Caron O, Frebourg T, Barreau L, Pachet C, Mathieu MC, Marsiglia H, Bourgier C
Radiat Oncol 2010 Nov 8;5:104. doi: 10.1186/1748-717X-5-104. [Epub ahead of print] PMID: 21059199Free PMC Article

Recent systematic reviews

Madge SN, Tumuluri K, Strianese D, Bonavolonta P, Wilcsek G, Dodd TJ, Selva D
Ophthalmology 2010 Mar;117(3):606-14. Epub 2009 Dec 22 doi: 10.1016/j.ophtha.2009.08.017. [Epub ahead of print] PMID: 20022639

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