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CGA-IGC 2025 Abstracts
CGA-IGC 2025 Abstracts
General research—OtherAuthors: Lilian Cordova1,3, Vahid Akbari1,2, Tiffany Leung4, Katherine Dixon1,5, Kieran O’Neill2, Al...
as a colorectal cancer predisposition gene: an integrated review of the literature and evaluation in 9738 cases and 161,403 controls
as a colorectal cancer predisposition gene: an integrated review of the literature and evaluation in 9738 cases and 161,403 controls
Germline variants in Ribosomal Protein S20 (RPS20) have been reported to predispose to colorectal cancer (CRC) based on oc...
Homozygous alterations: a case of a biallelic splice variant and a brief review of the literature
Homozygous alterations: a case of a biallelic splice variant and a brief review of the literature
Biallelic germline variants in TP53 are exceedingly rare, and their clinical consequences remain poorly defined. Here, we ...
Von Hippel-Lindau disease: pathophysiological and clinical advances
Von Hippel-Lindau disease: pathophysiological and clinical advances
Von Hippel-Lindau (VHL) disease is a hereditary tumor predisposition syndrome caused by pathogenic germline variants in th...
Monoallelic p.(Gln90*) and cancer risk: evidence from a large Turkish cohort
Monoallelic p.(Gln90*) and cancer risk: evidence from a large Turkish cohort
Biallelic loss-of-function variants in NTHL1 are associated with an autosomal recessive cancer predisposition syndrome, wh...
The impact of international care networks on the clinical management of constitutional mismatch repair deficiency (CMMRD): a review of recent developments
The impact of international care networks on the clinical management of constitutional mismatch repair deficiency (CMMRD): a review of recent developments
Constitutional mismatch repair deficiency (CMMRD) is a rare and likely the most penetrant cancer predisposition syndrome c...
When screentime fails: initiative to improve completion of hereditary cancer genetic testing after telemedicine counseling
When screentime fails: initiative to improve completion of hereditary cancer genetic testing after telemedicine counseling
Telemedicine has broadened access to genetic counseling while maintaining high levels of patient satisfaction. However, em...
Expanding access to hereditary cancer genetic testing: a quality improvement initiative of mainstreaming in a diverse urban gynecology clinic
Expanding access to hereditary cancer genetic testing: a quality improvement initiative of mainstreaming in a diverse urban gynecology clinic
Most individuals with hereditary cancer syndromes remain undiagnosed and cannot benefit from cancer mitigation strategies....
Peutz-Jeghers Syndrome and lung cancer: does the risk meet the threshold for lung cancer screening?
Peutz-Jeghers Syndrome and lung cancer: does the risk meet the threshold for lung cancer screening?
Peutz-Jeghers Syndrome (PJS) is caused by germline pathogenic variants in the STK11 gene and is associated with elevated l...
Endoscopic detection of signet ring cell carcinoma in carriers: a 15-year single-centre experience
Endoscopic detection of signet ring cell carcinoma in carriers: a 15-year single-centre experience
CDH1 pathogenic variant carriers are at high lifetime risk of hereditary diffuse gastric cancer (HDGC). Endoscopic surveil...
Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in gene identified by long-read DNA sequencing
Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in gene identified by long-read DNA sequencing
Lynch syndrome, the most common hereditary cancer syndrome, is caused by germline pathogenic variants in DNA mismatch repa...
Breast cancer phenotypes in carriers of pathogenic variants
Breast cancer phenotypes in carriers of pathogenic variants
Germline pathogenic variants (PVs) in POT1, one of the shelterin complex genes, correlate with tumor predisposition, prima...
Impact of updated NCCN guidelines on clinical management and risk communication for p.I157T carriers in breast cancer
Impact of updated NCCN guidelines on clinical management and risk communication for p.I157T carriers in breast cancer
In 2023, the National Comprehensive Cancer Network® (NCCN®) updated its guidelines for managing breast cancer ri...
Brief report: attitudes and barriers toward genetic testing in pleural mesothelioma: a nationwide Italian survey
Brief report: attitudes and barriers toward genetic testing in pleural mesothelioma: a nationwide Italian survey
Pleural mesothelioma (PM) is a malignancy with a relevant genetic component, with germline mutations identified in up to 1...
Reclassification of an uncertain germline variant as likely pathogenic: a family study
Reclassification of an uncertain germline variant as likely pathogenic: a family study
Early-onset breast cancer in a woman prompted referral for genetic counseling, due to suspected hereditary cancer predispo...
Barriers and facilitators for medical oncologists in the further implementation of mainstream genetic testing in breast cancer care in the Netherlands
Barriers and facilitators for medical oncologists in the further implementation of mainstream genetic testing in breast cancer care in the Netherlands
Only 67% of eligible patients with breast cancer currently undergo genetic testing. Mainstream genetic testing (i.e. healt...
Adenoma and carcinoma in the anal transitional zone following hand-sewn versus stapled ileal pouch-anal anastomosis in familial adenomatous polyposis
Adenoma and carcinoma in the anal transitional zone following hand-sewn versus stapled ileal pouch-anal anastomosis in familial adenomatous polyposis
Restorative proctocolectomy (RPC) with ileal pouch-anal anastomosis (IPAA) is the standard surgical treatment for familial...
Endoscopic papillectomy for ampullary adenomas in familial adenomatous polyposis
Endoscopic papillectomy for ampullary adenomas in familial adenomatous polyposis
Objectives of the study were to determine the success, complication and recurrence rate of endoscopic papillectomies in fa...
The germline c.1420 C > A (p.Leu474Ile) variant segregates with endometrial cancer, colorectal cancer and colonic polyps demonstrating hypermutation and defective mutational signatures
The germline c.1420 C > A (p.Leu474Ile) variant segregates with endometrial cancer, colorectal cancer and colonic polyps demonstrating hypermutation and defective mutational signatures
Germline pathogenic variants within the highly conserved exonuclease domain of the POLD1 gene predisposes to colorectal (C...
Hybrid neurofibroma/schwannoma in schwannomatosis—a diagnostically challenging benign peripheral nerve sheath tumour
Hybrid neurofibroma/schwannoma in schwannomatosis—a diagnostically challenging benign peripheral nerve sheath tumour
Hybrid neurofibroma/schwannoma tumors (HNS) represent a still underrecognized, yet clinically and diagnostically significa...
Patient and provider perspectives on how a mobile health application may address barriers to Lynch Syndrome care
Patient and provider perspectives on how a mobile health application may address barriers to Lynch Syndrome care
Lynch Syndrome (LS) is a common condition that increases risk of multi-organ cancers. Risk-reduction care is complex and c...
Correction: Barriers and facilitators for medical oncologists in the further implementation of mainstream genetic testing in breast cancer care in the Netherlands
Correction: Barriers and facilitators for medical oncologists in the further implementation of mainstream genetic testing in breast cancer care in the Netherlands
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies
Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies
The three major schwannomatosis genes, NF2, LZTR1 and SMARCB1, are all located within approximately 9 megabases on chromos...
Pancreatic cancer surveillance not recommended for familial adenomatous polyposis: a fine and gray risk analysis
Pancreatic cancer surveillance not recommended for familial adenomatous polyposis: a fine and gray risk analysis
Pancreatic cancer (PDAC) surveillance programs are recommended for individuals with a PDAC lifetime-risk ≥R...
Novel susceptibility genes for non--related hereditary schwannomatosis
Novel susceptibility genes for non--related hereditary schwannomatosis
Schwannomatosis refers to a group of rare genetic syndromes characterized by a predisposition to develop nerve sheath tumo...
“Choosing the main character”: healthcare professionals’ attitudes towards counselling patients about risk disclosure to relatives in the era of mainstream cancer genetic testing
“Choosing the main character”: healthcare professionals’ attitudes towards counselling patients about risk disclosure to relatives in the era of mainstream cancer genetic testing
This study explored healthcare professionals’ attitudes toward counselling patients on disclosing genetic cancer ris...
A novel likely pathogenic germline variant in in a patient with MEN4 and medullary thyroid cancer
A novel likely pathogenic germline variant in in a patient with MEN4 and medullary thyroid cancer
Multiple endocrine neoplasia type 4 (MEN4) is caused by a germline CDKN1B deleterious variant. CDKN1B encodes p27Kip1, a c...
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting
There is frequent uncertainty in both the precise quantification of risk, and the application of clinical interventions, d...
Azacitidine and venetoclax for the treatment of AML arising from an underlying telomere biology disorder
Azacitidine and venetoclax for the treatment of AML arising from an underlying telomere biology disorder
Telomere biology disorders (TBDs) are a group of genetic conditions characterized by defects in telomere maintenance leadi...
The European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS): benefits for patients, families, and health care providers
The European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS): benefits for patients, families, and health care providers
The European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) established in 2017 and connecting more tha...
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