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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...
Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant
Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant
Pathogenic germline variants (PGVs) in the CDH1 gene are associated with diffuse gastric and lobular breast cancer syndrom...
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam
In Vietnam, colorectal cancer is one of the top diagnosed cancers, with 5–10% originating from inherited mutations. ...
Germline whole genome sequencing in adults with multiple primary tumors
Germline whole genome sequencing in adults with multiple primary tumors
Multiple primary tumors (MPTs) are a harbinger of hereditary cancer syndromes. Affected individuals often fit genetic test...
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which...
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study
Juvenile polyposis syndrome (JPS) is a hereditary hamartomatous polyposis syndrome characterized by gastrointestinal juven...
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center
This study evaluated the impact of mainstreamed genetic testing (MGT) on the timing and uptake of testing in an academic b...
Cancer surveillance for transgender and gender diverse patients with Lynch syndrome: a practice resource of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
Cancer surveillance for transgender and gender diverse patients with Lynch syndrome: a practice resource of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
Transgender and gender diverse (TGD) populations with hereditary cancer syndromes face unique obstacles to identifying and...
Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1
Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1
Young women with Neurofibromatosis type 1 (NF1) have a high risk of developing breast cancer and poorer survival following...
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report
Germline pathogenic variants in the DNA mismatch repair (MMR) genes (Lynch syndrome) predispose to colorectal (CRC) and en...
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare, autosomal dominant tumor predisposition syndrome cha...
Ninth International Symposium on Hereditary Breast and Ovarian Cancer
Ninth International Symposium on Hereditary Breast and Ovarian Cancer
Share this articleAnyone you share the following link with will be able to read this content:Get shareable linkSorry, a sh...
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis
DICER1 syndrome is an inherited condition associated with an increased risk of developing hamartomatous and neopl...
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed
Individuals with Lynch syndrome have an increased colorectal cancer risk, hence, biennial colonoscopy surveillance is reco...
Hematologic toxicities of chemotherapy in breast and ovarian cancer patients carrying BRCA1/BRCA2 germline pathogenic variants. A single center experience and review of the literature
Hematologic toxicities of chemotherapy in breast and ovarian cancer patients carrying BRCA1/BRCA2 germline pathogenic variants. A single center experience and review of the literature
BRCA1 and BRCA2 play a central role in DNA repair and their germline pathogenic variants (gBRCA) confer a high risk for de...
Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161
Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161
Recent genetic sequencing studies in large series’ of predominantly childhood medulloblastoma have implicated loss-o...
Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants
Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants
Acute myeloid leukemia with germline CEBPA mutation is a subtype of acute myeloid leukemia that is associated with a favor...
Characteristics of familial pancreatic cancer families with additional colorectal carcinoma
Characteristics of familial pancreatic cancer families with additional colorectal carcinoma
Familial pancreatic cancer (FPC) is a rare hereditary tumor entity with broad phenotypic heterogeneity, including colorect...
Heritable methylation marks associated with prostate cancer risk
Heritable methylation marks associated with prostate cancer risk
DNA methylation marks that are inherited from parents to offspring are known to play a role in cancer risk and could expla...
2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022
2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022
Germline MBD4 pathogenic variants in cancerMariona Terradas1, Sandra Garcia Mulero2, Noemi Gonzalez Abuin1, Gemma Aiza1, J...
Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition
Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition
CHEK2 is a well-established breast cancer susceptibility gene. The most frequent pathogenic CHEK2 variant is 1100delC, a l...
Pilot study of the prevalence of autoimmune disorders in Li-Fraumeni syndrome
Pilot study of the prevalence of autoimmune disorders in Li-Fraumeni syndrome
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Dri...
Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing
Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing
Germline pathogenic variants in the tumor suppressor gene BAP1 are associated with the hereditary tumor predisposition syn...
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome
The PMS2 gene is one of the DNA mismatch repair genes (MMR) implicated in Lynch syndrome (LS). A subset of PMS2 pathogenic...
A retrospective cohort study of genetic referral and diagnosis of lynch syndrome in patients with cutaneous sebaceous lesions
A retrospective cohort study of genetic referral and diagnosis of lynch syndrome in patients with cutaneous sebaceous lesions
Immunohistochemistry (IHC) of cutaneous sebaceous lesions (SL) can be used to screen patients for Lynch syndrome (LS). The...
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review
A subset of patients with Lynch Syndrome demonstrates cutaneous manifestations of the disorder. Characterization of these ...
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