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Navigating disclosure in new romantic partnerships as an adolescent or young adult with Li-Fraumeni syndrome
Navigating disclosure in new romantic partnerships as an adolescent or young adult with Li-Fraumeni syndrome
Li-Fraumeni syndrome (LFS) is an early-onset cancer syndrome caused by pathogenic germline TP53 variants. Adolescents and ...
Cancer spectrum in Mexican patients with the p.(Leu236Pro) variant: a retrospective study
Cancer spectrum in Mexican patients with the p.(Leu236Pro) variant: a retrospective study
This study aimed to characterize, for the first time, the cancer spectrum associated with the most frequent pathogenic CHE...
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...
Myelodysplastic syndrome with dual germline and variants: a rare genetic predisposition case
Myelodysplastic syndrome with dual germline and variants: a rare genetic predisposition case
Germline variants in RUNX1 and DDX41 are well-established contributors to hereditary myeloid neoplasms and are increasingl...
Identification of a germline deep intronic -deletion leading to exonization through whole genome and targeted RNA sequencing
Identification of a germline deep intronic -deletion leading to exonization through whole genome and targeted RNA sequencing
PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal dominant disorder characterized by high penetrance and significant ph...
New gene variant in colorectal cancer diagnosis: insight from a large series of patients
New gene variant in colorectal cancer diagnosis: insight from a large series of patients
Germline pathogenic variants of the RPS20 (ribosomal protein S20) gene are suspected to be involved in the predisposition ...
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...
The patterns and spectrum of and mutations in Iranian breast and ovarian cancer patients
The patterns and spectrum of and mutations in Iranian breast and ovarian cancer patients
Women with inherited BRCA1/2 mutations are at increased risk of breast and ovarian cancer. The reports on the prevalence a...
Causes of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic promoter methylation
Causes of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic promoter methylation
Approximately 30% of sebaceous skin lesions (or sebaceous neoplasia) demonstrate DNA mismatch repair (MMR)-deficiency. MMR...
One hundred years of the St Mark’s hospital polyposis registry
One hundred years of the St Mark’s hospital polyposis registry
The St Mark’s Hospital Polyposis Registry was founded in 1924, the first such unit in the world. This paper document...
Genetics, genomics and clinical features of adenomatous polyposis
Genetics, genomics and clinical features of adenomatous polyposis
Adenomatous polyposis syndromes are hereditary conditions characterised by the development of multiple adenomas in the gas...
A review of somatic mosaicism and specific variants - I1307K and promotor variants
A review of somatic mosaicism and specific variants - I1307K and promotor variants
In the majority of patients with a classical Familial Adenomatous Polyposis (FAP) a pathogenic APC germline variant is ide...
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family
Genetic susceptibility to familial colorectal cancer (CRC), including for individuals classified as Familial Colorectal Ca...
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?
Healthy carriers of BRCA1/2 pathogenic variants (PVs) may benefit from risk-reducing measures of proven efficacy. The main...
Functional and phenotypic consequences of an unusual inversion in MSH2
Functional and phenotypic consequences of an unusual inversion in MSH2
Lynch syndrome is an autosomal dominant disorder that usually results from a pathogenic germline variant in one of four ge...
Balancing the burden and benefits of colonoscopy in Lynch Syndrome
Balancing the burden and benefits of colonoscopy in Lynch Syndrome
Van Liere ELSA, Jacobs IL, Dekker E, Jacobs MAJM, de Boer NKH, Ramsoekh D (2023) Colonoscopy surveillance in Lynch syndrom...
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer
Current algorithms for diagnosing Lynch syndrome (LS) include multistep molecular tumor tests to distinguish LS-associated...
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