SCIENTIFIC BACKGROUND

APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, PMS2, SDHB, SDHC, SDHD, SMAD4, STK11, TP53

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Scientific Background

Gastric cancer is a type of cancer that starts from cancerous cells in the stomach lining. It is considered the 5th most common type of cancer worldwide. Although the majority of gastric cancers are sporadic and can be caused by mutations acquired during a person’s lifetime, it is estimated that about 5-10% of the cases arise due to inherited or familial syndromes such as hereditary diffuse gastric syndrome. Having an inherited (germline) mutation in a gene with cancer susceptibility to gastric cancer, or a predisposing cancer syndrome can increase the risk of developing gastric cancer in the future.

 

PreSENTIA hereditary Gastric cancer panel tests for numerous germline mutations that could cause gastric (stomach) cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

 

Who is this test for?

You should get tested if you meet at least one of the criteria below:

You have been diagnosed with gastric cancer at a young age (<50)

You have family or personal history of a hereditary cancer syndrome associated with gastric cancer

You have a family member that has been diagnosed with a germline mutation associated with cancer susceptibility

 

How many genes are tested in this panel?

14 genes

 

How many hereditary cancer syndromes are associated with this panel?

8 Hereditary cancer syndromes are associated with this panel. These are:

Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)

Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)

Hereditary diffuse gastric syndrome (CDH1)

Hereditary Paraganglioma – Pheochromocytoma syndrome (SDHD, SDHAF2, SDHC, SDHB)

Juvenile polyposis syndrome (SMAD4, BMPR1A)

Li-Fraumeni syndrome (TP53)

Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)

Peutz-Jeghers syndrome (STK11)

 

Recommendations by professional bodies

ESMO (Stjepanovic et al., )  recommends genetic testing for CDH1 gene in people with family history of Hereditary diffuse gastric syndrome and fulfil one of the following criteria according to International Gastric Cancer Linkage Consortium (IGCLC) guidelines. These criteria include:

At least two cases of gastric cancer diagnosed in first- or second-degree relatives from which at least one case is diagnosed with diffused gastric cancer

Personal history of diffused gastric cancer at a young age (<40)

Personal or family history of diffused gastric cancer and lobular breast cancer at a young age (<50)

 

References and more information: 

Information obtained from professional bodies including World Cancer Research Fund International

American College of Obstetricians and Gynecologists. Hereditary Cancer Syndromes and Risk Assessment: Acog Committee Opinion, Number 793. Obstet. Gynecol. 2019, 134, e143–e149.

Kole C, Charalampakis N, Sakellariou S, Papaxoinis G, Apostolou KG, Machairas N, Papanikolaou IS, Schizas D. Hereditary Diffuse Gastric Cancer: A 2022 Update. J Pers Med. 2022 Dec 8;12(12):2032. doi: 10.3390/jpm12122032. PMID: 36556253; PMCID: PMC9783673.

van der Post RS, Vogelaar IP, Carneiro F, Guilford P, Huntsman D, Hoogerbrugge N, Caldas C, Schreiber KE, Hardwick RH, Ausems MG, Bardram L, Benusiglio PR, Bisseling TM, Blair V, Bleiker E, Boussioutas A, Cats A, Coit D, DeGregorio L, Figueiredo J, Ford JM, Heijkoop E, Hermens R, Humar B, Kaurah P, Keller G, Lai J, Ligtenberg MJ, O'Donovan M, Oliveira C, Pinheiro H, Ragunath K, Rasenberg E, Richardson S, Roviello F, Schackert H, Seruca R, Taylor A, Ter Huurne A, Tischkowitz M, Joe ST, van Dijck B, van Grieken NC, van Hillegersberg R, van Sandick JW, Vehof R, van Krieken JH, Fitzgerald RC. Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet. 2015 Jun;52(6):361-74. doi: 10.1136/jmedgenet-2015-103094. Epub 2015 May 15. PMID: 25979631; PMCID: PMC4453626.

Stjepanovic N, Moreira L, Carneiro F, Balaguer F, Cervantes A, Balmaña J, Martinelli E; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org. Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up†. Ann Oncol. 2019 Oct 1;30(10):1558-1571. doi: 10.1093/annonc/mdz233. PMID: 31378807.

GENES

APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, PMS2, SDHB, SDHC, SDHD, SMAD4, STK11, TP53
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