GTS5:Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1)

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Genetic Tumour Syndromes (Who Classification, 5th ed.)

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Primary Author(s)*

Jasmine Baker, Baylor College of Medicine/ClinGen; Xiaolin Hu, GeneDx

WHO Classification of Disease

Structure Disease
Book Genetic Tumour Syndromes (5th ed.)
Category Genetic tumor syndromes
Family Hereditary cancer predisposition syndromes
Type Hereditary gastric and breast cancer syndrome (CDH1, CTNNA1)
Subtype(s) N/A

Related Terminology

Acceptable Hereditary diffuse gastric cancer syndrome (HDGC); hereditary lobular breast cancer (HLBC); diffuse gastric and lobular breast cancer syndrome; diffuse gastric cancer syndrome/lobular breast cancer syndrome (DGCS/LBCS); CDH1-related tumour susceptibility syndrome; Cadherin-related tumour susceptibility syndrome
Not Recommended Non-hereditary diffuse gastric cancer; Sporadic diffuse gastric cancer

Definition/Description of Disease

Hereditary gastric and breast cancer syndrome is an autosomal dominant disorder characterized by a markedly increased risk of diffuse gastric cancer (DGC) and lobular breast cancer (LBC). The syndrome is primarily caused by pathogenic germline variants in the CDH1 gene, which encodes E-cadherin, a cell adhesion protein[1]. A minority of cases are due to pathogenic variants in CTNNA1, encoding alpha-catenin, which interacts with E-cadherin[2][3][4][5].

HDGC is defined by the presence of a pathogenic germline CDH1 or CTNNA1 variant in an individual or family with DGC or LBC. Diagnostic criteria include personal or family history of DGC and/or LBC. The syndrome is characterized by a high lifetime risk of DGC and LBC, with variable age of onset and incomplete penetrance. Rare associated congenetial anomalies, such as cleft lip and plate have been reported. Differential diagnosis includes other hereditary cancer syndromes such as Lynch syndrome and hereditary breast and ovarian cancer (HBOC). From a pathological perspective, early gastric lesions cnosist of multiple intramucosal foci of signet ring call carcinoma (SRCC) explaining the rationale for prophylactic gastrectomy in confirmed carriers. Complete tumor initiation requires biallelic loss of E-cadherin function, consistent with a tumor supressor gene model[6][7][8].

Epidemiology/Prevalence

HGBCS accounts for <1% of all gastric cancers worldwide [9][10][11]. Among families meeting clinical HDGC/HCBCS criteria, CDH1 pathogenic/likely pathogenic variants are identified in approximately 10-40% of cases [12][13][14]. CTNNA1 pathogenic variants account for <2% of cases [15][16]. Penetrance estimates for CDH1 carriers are as follows: Gastric Cancer: ~42% men, ~33% women and Female breast cancer: up to 55% by age 80[17].

Genetic Abnormalities: Germline

Put your text here and fill in the table (Instructions: Describe germline alteration(s) that cause the syndrome. In the notes, include additional details about most common mutations including founder mutations, mechanisms of molecular pathogenesis, alteration-specific prognosis and any other important genetics-related information. If multiple causes of the syndrome, include relative prevalence of genetic contributions to that syndrome. Please include references throughout the table. Do not delete the table.)

Gene Genetic Variant or Variant Type Molecular Pathogenesis Inheritance, Penetrance, Expressivity Notes
CDH1 Nonsense, frameshift, splice-site variants; missense variants affecting extracellular domains; multi-exon or whole-gene deletions Loss of E‑cadherin–mediated cell–cell adhesion; disruption of epithelial polarity and tissue architecture Autosomal dominant; incomplete but high penetrance; marked intrafamilial variability Most variants are truncating; no consistent genotype–phenotype correlations or mutational hotspots identified [18][19][20]
CTNNA1 Truncating variants (nonsense, frameshift) Loss of α‑catenin function, impairing adherens junction stability and downstream signaling Autosomal dominant; penetrance less well defined Breast cancer risk uncertain; gastric SRCC precursor lesions less frequent than in CDH1 carriers[21][22]

Genetic Abnormalities: Somatic

Put your text here and fill in the table (Instructions: Describe significant second hit mutations, or somatic variants that present as a germline syndrome. In the notes, include details about most common mutations, mechanisms of molecular pathogenesis, alteration-specific prognosis and any other important genetic-related information. Please include references throughout the table. Do not delete the table.)

Gene Genetic Variant or Variant Type Molecular Pathogenesis Inheritance, Penetrance, Expressivity Notes
CDH1 Second-hit inactivation via LOH, promoter hypermethylation, somatic mutation, or deletion Complete loss of E-cadherin function required for tumor initiation Tumor specific Observed in early SRCC foci and advanced DGC[23][24]
TP53 Missense or truncating mutations Genomic instability and progression from indolent to aggresive disease Tumor specific Typically associated with progression beyond intramucosal disease [25]
ARID1A, RHOA, PIK3CA Inactivating or activating somatic variants Chromatin remodeling defects; altered cytoskeletal signaling and Pi3K pathway activation Tumor specific Identified in advanced DGC in both CDH1 and CTNNA1 carriers [26][27]

Genes and Main Pathways Involved

Put your text here and fill in the table (Instructions: Please include references throughout the table. Do not delete the table.)

Gene; Genetic Alteration Pathway Pathophysiologic Outcome
CDH1 loss of function variants Adherens junctions; epithelial integrity Loss of cell cohesion; diffuse infiltration of signet ring cells
CTNNA1 truncating variants Adherens junctions; WNT/beta catenin signaling Impaired junction stability and altered signaling
TP53 somatic mutations DNA damage response Tumor progression and aggresive phenotype
ARID1A inactivation Chromatin remodeling (SWI/SNF) Aberrant gene expression
RHOA Cytoskeltal signaling Increased cell motility and invasion

Genetic Diagnostic Testing Methods

Genetic evaluation for hereditary gastric and breast cancer syndrome primarily involves germline testing using multigene hereditary cancer panels that include CDH1 and CTNNA1. These panels are typically performed using next-generation sequencing (NGS) platforms with integrated copy number variant (CNV) analysis to detect both sequence-level variants and larger deletions or duplications. When a pathogenic or likely pathogenic variant is identified, confirmatory testing may be performed using Sanger sequencing for single-nucleotide variants or small insertions/deletions, and multiplex ligation-dependent probe amplification (MLPA) or NGS-based CNV assays to validate large genomic rearrangements.

In selected contexts, tumor testing with somatic sequencing can be used to identify second-hit events affecting the wild-type allele, primarily for research purposes or confirmatory assessment of tumor pathogenesis. Although loss or reduction of E-cadherin protein expression is frequently observed in CDH1-related tumors, E‑cadherin immunohistochemistry is not recommended as a screening or preselection test for this syndrome because abnormal staining patterns are also common in sporadic gastric and breast cancers and therefore lack sufficient specificity [28][29].

Additional Information

Risk-reducing total gastrectomy is recommended for confirmed CDH1 carriers due to the high prevalence (>95%) of occult SRCC foci in prophylactic specimens [30] . Breast cancer surveillance or risk-reducing mastectomy should be individualized based on sex, age, and family history [31] . Emerging evidence suggests possible enrichment of PALB2 pathogenic variants in HDGC-like families without CDH1 variants, though this is not yet definitive [32][33].

Links

https://www.ncbi.nlm.nih.gov/gene/999 (CDH1)

https://www.ncbi.nlm.nih.gov/gene/1495 (CTNNA1)

References

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  1. ↑ Blair, Vanessa R.; McLeod, Maybelle; Carneiro, Fátima; Coit, Daniel G.; D'Addario, Johanna L.; van Dieren, Jolanda M.; Harris, Kirsty L.; Hoogerbrugge, Nicoline; Oliveira, Carla (2020-08). "Hereditary diffuse gastric cancer: updated clinical practice guidelines". The Lancet. Oncology. 21 (8): e386–e397. doi:10.1016/S1470-2045(20)30219-9. ISSN 1474-5488. PMC 7116190. PMID 32758476. {{cite journal}}: Check date values in: |date= (help)
  2. ↑ Majewski, Ian J.; Kluijt, Irma; Cats, Annemieke; Scerri, Thomas S.; de Jong, Daphne; Kluin, Roelof J. C.; Hansford, Samantha; Hogervorst, Frans B. L.; Bosma, Astrid J. (2013-03). "An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer". The Journal of Pathology. 229 (4): 621–629. doi:10.1002/path.4152. ISSN 1096-9896. PMID 23208944. {{cite journal}}: Check date values in: |date= (help)
  3. ↑ Benusiglio, Patrick R.; Colas, Chrystelle; Guillerm, Erell; Canard, Axelle; Delhomelle, Hélène; Warcoin, Mathilde; Bellanger, Jérôme; Eyries, Mélanie; Zizi, Mohamed (2019-07). "Clinical implications of CTNNA1 germline mutations in asymptomatic carriers". Gastric Cancer: Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association. 22 (4): 899–903. doi:10.1007/s10120-018-00907-7. ISSN 1436-3305. PMID 30515673. {{cite journal}}: Check date values in: |date= (help)
  4. ↑ Guilford, Parry; Hopkins, Justin; Harraway, James; McLeod, Maybelle; McLeod, Ngahiraka; Harawira, Pauline; Taite, Huriana; Scoular, Robin; Miller, Andrew (1998-03). "E-cadherin germline mutations in familial gastric cancer". Nature. 392 (6674): 402–405. doi:10.1038/32918. ISSN 1476-4687. {{cite journal}}: Check date values in: |date= (help)
  5. ↑ van der Post, Rachel S; Vogelaar, Ingrid P; Carneiro, Fátima; Guilford, Parry; Huntsman, David; Hoogerbrugge, Nicoline; Caldas, Carlos; Chelcun Schreiber, Karen E; Hardwick, Richard H (2015-06). "Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers". Journal of Medical Genetics. 52 (6): 361–374. doi:10.1136/jmedgenet-2015-103094. ISSN 0022-2593. PMC 4453626. PMID 25979631. {{cite journal}}: Check date values in: |date= (help)
  6. ↑ Grady, W. M.; Willis, J.; Guilford, P. J.; Dunbier, A. K.; Toro, T. T.; Lynch, H.; Wiesner, G.; Ferguson, K.; Eng, C. (2000-09). "Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer". Nature Genetics. 26 (1): 16–17. doi:10.1038/79120. ISSN 1061-4036. PMID 10973239. {{cite journal}}: Check date values in: |date= (help)
  7. ↑ Humar, Bostjan; Blair, Vanessa; Charlton, Amanda; More, Helen; Martin, Iain; Guilford, Parry (2009-03-01). "E-cadherin deficiency initiates gastric signet-ring cell carcinoma in mice and man". Cancer Research. 69 (5): 2050–2056. doi:10.1158/0008-5472.CAN-08-2457. ISSN 1538-7445. PMID 19223545.
  8. ↑ Corso, Giovanni; Carvalho, Joana; Marrelli, Daniele; Vindigni, Carla; Carvalho, Beatriz; Seruca, Raquel; Roviello, Franco; Oliveira, Carla (2013-03-01). "Somatic mutations and deletions of the E-cadherin gene predict poor survival of patients with gastric cancer". Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology. 31 (7): 868–875. doi:10.1200/JCO.2012.44.4612. ISSN 1527-7755. PMID 23341533.
  9. ↑ Blair, Vanessa; Martin, Iain; Shaw, David; Winship, Ingrid; Kerr, Dale; Arnold, Julie; Harawira, Pauline; McLeod, Maybelle; Parry, Susan (2006-03). "Hereditary Diffuse Gastric Cancer: Diagnosis and Management". Clinical Gastroenterology and Hepatology. 4 (3): 262–275. doi:10.1016/j.cgh.2005.12.003. {{cite journal}}: Check date values in: |date= (help)
  10. ↑ Hakkaart, Christopher; Ellison-Loschmann, Lis; Day, Robert; Sporle, Andrew; Koea, Jonathan; Harawira, Pauline; Cheng, Soo; Gray, Michelle; Whaanga, Tracey (2019-01). "Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori". Familial Cancer. 18 (1): 83–90. doi:10.1007/s10689-018-0080-8. ISSN 1389-9600. PMC 6323075. PMID 29589180. {{cite journal}}: Check date values in: |date= (help)
  11. ↑ Kim, Sollip; Chung, Jun-Won; Jeong, Tae-Dong; Park, Young-Soo; Lee, Jeong Hoon; Ahn, Ji Yong; Kim, Do Hoon; Choi, Kee Don; Lee, Woochang (2013-09). "Searching for E-cadherin gene mutations in early onset diffuse gastric cancer and hereditary diffuse gastric cancer in Korean patients". Familial Cancer. 12 (3): 503–507. doi:10.1007/s10689-012-9595-6. ISSN 1389-9600. {{cite journal}}: Check date values in: |date= (help)
  12. ↑ Fitzgerald, Rebecca C; Hardwick, Richard; Huntsman, David; Carneiro, Fatima; Guilford, Parry; Blair, Vanessa; Chung, Daniel C; Norton, Jeff; Ragunath, Krishnadath (2010-07). "Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research". Journal of Medical Genetics. 47 (7): 436–444. doi:10.1136/jmg.2009.074237. ISSN 0022-2593. PMC 2991043. PMID 20591882. {{cite journal}}: Check date values in: |date= (help)
  13. ↑ van der Post, Rachel S; Vogelaar, Ingrid P; Carneiro, Fátima; Guilford, Parry; Huntsman, David; Hoogerbrugge, Nicoline; Caldas, Carlos; Chelcun Schreiber, Karen E; Hardwick, Richard H (2015-06). "Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers". Journal of Medical Genetics. 52 (6): 361–374. doi:10.1136/jmedgenet-2015-103094. ISSN 0022-2593. PMC 4453626. PMID 25979631. {{cite journal}}: Check date values in: |date= (help)
  14. ↑ Blair, Vanessa R; McLeod, Maybelle; Carneiro, Fátima; Coit, Daniel G; D'Addario, Johanna L; van Dieren, Jolanda M; Harris, Kirsty L; Hoogerbrugge, Nicoline; Oliveira, Carla (2020-08). "Hereditary diffuse gastric cancer: updated clinical practice guidelines". The Lancet Oncology. 21 (8): e386–e397. doi:10.1016/S1470-2045(20)30219-9. PMC 7116190. PMID 32758476. {{cite journal}}: Check date values in: |date= (help)
  15. ↑ Benusiglio, Patrick R; Colas, Chystelle; Rouleau, Etienne; Uhrhammer, Nancy; Romero, Pierre; Remenieras, Audrey; Moretta, Jessica; Wang, Qing; De Pauw, Antoine (2015-08). "Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation". Journal of Medical Genetics. 52 (8): 563–565. doi:10.1136/jmedgenet-2015-103153. ISSN 0022-2593. {{cite journal}}: Check date values in: |date= (help)
  16. ↑ Lobo, Silvana; Benusiglio, Patrick R.; Coulet, Florence; Boussemart, Lise; Golmard, Lisa; Spier, Isabel; Hüneburg, Robert; Aretz, Stefan; Colas, Chrystelle (2021-10). "Cancer predisposition and germline CTNNA1 variants". European Journal of Medical Genetics. 64 (10): 104316. doi:10.1016/j.ejmg.2021.104316. {{cite journal}}: Check date values in: |date= (help)CS1 maint: article number as page number (link)
  17. ↑ Roberts, Maegan E.; Ranola, John Michael O.; Marshall, Megan L.; Susswein, Lisa R.; Graceffo, Sara; Bohnert, Kelsey; Tsai, Ginger; Klein, Rachel T.; Hruska, Kathleen S. (2019-09-01). "Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers". JAMA Oncology. 5 (9): 1325. doi:10.1001/jamaoncol.2019.1208. ISSN 2374-2437. PMC 6604087. PMID 31246251.
  18. ↑ Hansford, Samantha; Kaurah, Pardeep; Li-Chang, Hector; Woo, Michelle; Senz, Janine; Pinheiro, Hugo; Schrader, Kasmintan A.; Schaeffer, David F.; Shumansky, Karey (2015-04-01). "Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond". JAMA Oncology. 1 (1): 23. doi:10.1001/jamaoncol.2014.168. ISSN 2374-2437.
  19. ↑ Sugimoto, Shinya; Yamada, Hidetaka; Takahashi, Masazumi; Morohoshi, Yuichi; Yamaguchi, Naotaka; Tsunoda, Yuya; Hayashi, Hiroyuki; Sugimura, Haruhiko; Komatsu, Hirokazu (2014-10). "Early-onset diffuse gastric cancer associated with a de novo large genomic deletion of CDH1 gene". Gastric Cancer. 17 (4): 745–749. doi:10.1007/s10120-013-0278-2. ISSN 1436-3291. PMC 4169652. PMID 23812922. {{cite journal}}: Check date values in: |date= (help)
  20. ↑ Blair, Vanessa R.; McLeod, Maybelle; Carneiro, Fátima; Coit, Daniel G.; D'Addario, Johanna L.; van Dieren, Jolanda M.; Harris, Kirsty L.; Hoogerbrugge, Nicoline; Oliveira, Carla (2020-08). "Hereditary diffuse gastric cancer: updated clinical practice guidelines". The Lancet. Oncology. 21 (8): e386–e397. doi:10.1016/S1470-2045(20)30219-9. ISSN 1474-5488. PMC 7116190. PMID 32758476. {{cite journal}}: Check date values in: |date= (help)
  21. ↑ Weren, Robbert D. A.; van der Post, Rachel S.; Vogelaar, Ingrid P.; van Krieken, J. Han; Spruijt, Liesbeth; Lubinski, Jan; Jakubowska, Anna; Teodorczyk, Urszula; Aalfs, Cora M. (2018-10). "Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility". Journal of Medical Genetics. 55 (10): 669–674. doi:10.1136/jmedgenet-2017-104962. ISSN 1468-6244. PMC 6161648. PMID 29330337. {{cite journal}}: Check date values in: |date= (help)
  22. ↑ Lobo, Silvana; Benusiglio, Patrick R.; Coulet, Florence; Boussemart, Lise; Golmard, Lisa; Spier, Isabel; Hüneburg, Robert; Aretz, Stefan; Colas, Chrystelle (2021-10). "Cancer predisposition and germline CTNNA1 variants". European Journal of Medical Genetics. 64 (10): 104316. doi:10.1016/j.ejmg.2021.104316. ISSN 1878-0849. PMID 34425242. {{cite journal}}: Check date values in: |date= (help)CS1 maint: article number as page number (link)
  23. ↑ Grady, W. M.; Willis, J.; Guilford, P. J.; Dunbier, A. K.; Toro, T. T.; Lynch, H.; Wiesner, G.; Ferguson, K.; Eng, C. (2000-09). "Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer". Nature Genetics. 26 (1): 16–17. doi:10.1038/79120. ISSN 1061-4036. PMID 10973239. {{cite journal}}: Check date values in: |date= (help)
  24. ↑ Oliveira, Carla; Sousa, Sónia; Pinheiro, Hugo; Karam, Rachid; Bordeira-Carriço, Renata; Senz, Janine; Kaurah, Pardeep; Carvalho, Joana; Pereira, Rui (2009-06). "Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression". Gastroenterology. 136 (7): 2137–2148. doi:10.1053/j.gastro.2009.02.065. ISSN 1528-0012. PMID 19269290. {{cite journal}}: Check date values in: |date= (help)
  25. ↑ van der Post, Rachel S.; Gullo, Irene; Oliveira, Carla; Tang, Laura H.; Grabsch, Heike I.; O'Donovan, Maria; Fitzgerald, Rebecca C.; van Krieken, Han; Carneiro, Fátima (2016). "Histopathological, Molecular, and Genetic Profile of Hereditary Diffuse Gastric Cancer: Current Knowledge and Challenges for the Future". Advances in Experimental Medicine and Biology. 908: 371–391. doi:10.1007/978-3-319-41388-4_18. ISSN 0065-2598. PMID 27573781.
  26. ↑ Majewski, Ian J.; Kluijt, Irma; Cats, Annemieke; Scerri, Thomas S.; de Jong, Daphne; Kluin, Roelof J. C.; Hansford, Samantha; Hogervorst, Frans B. L.; Bosma, Astrid J. (2013-03). "An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer". The Journal of Pathology. 229 (4): 621–629. doi:10.1002/path.4152. ISSN 1096-9896. PMID 23208944. {{cite journal}}: Check date values in: |date= (help)
  27. ↑ van der Post, Rachel S.; Gullo, Irene; Oliveira, Carla; Tang, Laura H.; Grabsch, Heike I.; O'Donovan, Maria; Fitzgerald, Rebecca C.; van Krieken, Han; Carneiro, Fátima (2016). "Histopathological, Molecular, and Genetic Profile of Hereditary Diffuse Gastric Cancer: Current Knowledge and Challenges for the Future". Advances in Experimental Medicine and Biology. 908: 371–391. doi:10.1007/978-3-319-41388-4_18. ISSN 0065-2598. PMID 27573781.
  28. ↑ Carneiro, Fátima; Huntsman, David G.; Smyrk, Thomas C.; Owen, David A.; Seruca, Raquel; Pharoah, Paul; Caldas, Carlos; Sobrinho-Simões, Manuel (2004-06). "Model of the early development of diffuse gastric cancer in E-cadherin mutation carriers and its implications for patient screening". The Journal of Pathology. 203 (2): 681–687. doi:10.1002/path.1564. ISSN 0022-3417. PMID 15141383. {{cite journal}}: Check date values in: |date= (help)
  29. ↑ van der Post, Rachel S.; Gullo, Irene; Oliveira, Carla; Tang, Laura H.; Grabsch, Heike I.; O'Donovan, Maria; Fitzgerald, Rebecca C.; van Krieken, Han; Carneiro, Fátima (2016). "Histopathological, Molecular, and Genetic Profile of Hereditary Diffuse Gastric Cancer: Current Knowledge and Challenges for the Future". Advances in Experimental Medicine and Biology. 908: 371–391. doi:10.1007/978-3-319-41388-4_18. ISSN 0065-2598. PMID 27573781.
  30. ↑ Rocha, João P.; Gullo, Irene; Wen, Xiaogang; Devezas, Vítor; Baptista, Manuela; Oliveira, Carla; Carneiro, Fátima (2018-12). "Pathological features of total gastrectomy specimens from asymptomatic hereditary diffuse gastric cancer patients and implications for clinical management". Histopathology. 73 (6): 878–886. doi:10.1111/his.13715. ISSN 1365-2559. PMID 30014492. {{cite journal}}: Check date values in: |date= (help)
  31. ↑ Blair, Vanessa R; McLeod, Maybelle; Carneiro, Fátima; Coit, Daniel G; D'Addario, Johanna L; van Dieren, Jolanda M; Harris, Kirsty L; Hoogerbrugge, Nicoline; Oliveira, Carla (2020-08). "Hereditary diffuse gastric cancer: updated clinical practice guidelines". The Lancet Oncology. 21 (8): e386–e397. doi:10.1016/S1470-2045(20)30219-9. PMC 7116190. PMID 32758476. {{cite journal}}: Check date values in: |date= (help)
  32. ↑ Vogelaar, Ingrid P.; van der Post, Rachel S.; van Krieken, J. Han Jm; Spruijt, Liesbeth; van Zelst-Stams, Wendy Ag; Kets, C. Marleen; Lubinski, Jan; Jakubowska, Anna; Teodorczyk, Urszula (2017-11). "Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing". European journal of human genetics: EJHG. 25 (11): 1246–1252. doi:10.1038/ejhg.2017.138. ISSN 1476-5438. PMC 5643972. PMID 28875981. {{cite journal}}: Check date values in: |date= (help)
  33. ↑ Garcia-Pelaez, José; Barbosa-Matos, Rita; São José, Celina; Sousa, Sónia; Gullo, Irene; Hoogerbrugge, Nicoline; Carneiro, Fátima; Oliveira, Carla (2022-01). "Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes". European Journal of Medical Genetics. 65 (1): 104401. doi:10.1016/j.ejmg.2021.104401. ISSN 1878-0849. PMID 34871783. {{cite journal}}: Check date values in: |date= (help)CS1 maint: article number as page number (link)

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