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: 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.


How to order


Traditional DNA tests may overlook 10% of classic in Familial Adenomatous Polyposis (FAP) cases. By integrating RNA sequencing, researchers unveiled ...

Read more

Overview In January 2024, the American Society of Clinical Oncology (ASCO) and the Society of Surgical Oncology (SSO) published new recommendation...

Read more

Endometriosis is a chronic gynecological condition that affects 1 in 10 women of reproductive age worldwide [1]. It can manifest with the first menst...

Read more

Rare Disease Day is a global awareness day held annually to raise awareness of all rare diseases. It was first celebrated in 2008, on the rarest day ...

Read more

Cancer is a group of genetic diseases that can develop almost anywhere in the body. Many people in the world are affected by cancer every year. Follo...

Read more

Aiming to evaluate the role of chromosomal aneuploidy in pregnancy loss, a 2023 study 35 years in the making evaluated the genomic landscape of first...

Read more

Cancer is a complex genetic disease that affects millions of people in the world. It is one of the leading causes of death worldwide, with about ten ...

Read more

Researchers created a detailed map of the placenta during labor. By studying how maternal and fetal cells communicate, they discovered signals in the...

Read more

A recent paper published in Nature Medicine (1) aimed to identify genes and genomic biomarkers which can better predict outcomes and personalized the...

Read more

In honor of the international day of women and girls in science, we interviewed one of our very own, Dr. Evelina Papaioannou. Dr. Evelina Pa...

Read more