Aberrant transcription caused by an intronic non-canonical CDH1 variant Ahmed BourasChloé Grand-MassonQing Wang Correspondence 04 February 2024
Low prevalence of gastric intestinal metaplasia and Helicobacter pylori on surveillance upper endoscopy in Lynch syndrome Marya PulaskiMichaela DunganBryson W. Katona Short Communication 31 January 2024 Pages: 23 - 27
High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients Sabine BiermannMichael KnappVerena Steinke-Lange Original article Open access 27 January 2024
Breast density in NF1 women: a retrospective study R. De SantisG. CagnoliF. Natacci Original Article Open access 25 January 2024 Pages: 35 - 40
Li Fraumeni Syndrome predisposes to gastro-esophageal junction tumours Douglas TjandraAlex Boussioutas OriginalPaper Open access 11 January 2024 Pages: 29 - 33
Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review Laura A. GruttersImke Christiaans Review Open access 06 January 2024 Pages: 155 - 164
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family James M. ChanMark ClendenningDaniel D. Buchanan Original Article Open access 08 December 2023 Pages: 9 - 21
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention? Lucia TrevisanLea GodinoLiliana Varesco Original Article 16 November 2023 Pages: 197 - 207
Functional and phenotypic consequences of an unusual inversion in MSH2 Dylan PelletierAbhijit RathWilliam D. Foulkes Brief Report 14 November 2023 Pages: 1 - 7
Balancing the burden and benefits of colonoscopy in Lynch Syndrome Finlay Macrae EditorialNotes 15 September 2023 Pages: 399 - 401
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer Renata L. SandovalMiki HoriguchiMatthew B. Yurgelun Original Article 12 August 2023 Pages: 459 - 465
Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant Corrine FillmanArravinth AnantharajahBryson W Katona Original Article 04 August 2023 Pages: 521 - 526
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam Huu-Thinh NguyenY-Thanh LuHung-Sang Tang Original Article 30 July 2023 Pages: 449 - 458
Germline whole genome sequencing in adults with multiple primary tumors Yiming WangQiliang DingRaymond H. Kim Original Article 22 July 2023 Pages: 513 - 520
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center Teresa S. ChaiKanhua YinKevin S. Hughes Original article 24 June 2023 Pages: 467 - 474
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study Anne Marie JelsigThomas van Overeem HansenJohn Gásdal Karstensen Original Article Open access 24 June 2023 Pages: 429 - 436
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study Farina J. StrueweSarah SchottChristian P. Kratz Letter to the editor Open access 23 June 2023 Pages: 495 - 497
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 Rachel HodanLinda Rodgers-FoucheOn behalf of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Review 21 June 2023 Pages: 437 - 448
Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1 Mathilda WildingJane FlemingYemima Berman Original Article 19 June 2023 Pages: 499 - 511
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma Anisse ChamiThalía Rodrigues de Souza ZózimoLetícia da Conceição Braga Short Communication 15 June 2023 Pages: 481 - 486
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report Romy WalkerMark ClendenningDaniel D. Buchanan Brief Report Open access 15 June 2023 Pages: 423 - 428
Ninth International Symposium on Hereditary Breast and Ovarian Cancer Abstracts 07 June 2023 Pages: 345 - 397
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis Maria Apellaniz-RuizNelly SabbaghianWilliam D. Foulkes Brief Report Open access 30 May 2023 Pages: 487 - 493
Colonoscopy surveillance in Lynch syndrome is burdensome and frequently delayed Elsa L. S. A. van LiereImke L. JacobsDewkoemar Ramsoekh Original article Open access 12 May 2023 Pages: 403 - 411
Endoscopic and chemopreventive management of familial adenomatous polyposis syndrome J. K. StoneN. A. MehtaC. N. Bernstein Review 29 April 2023 Pages: 413 - 422
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 Ketty Hu-HeimgartnerNoémie LangS. Intidhar Labidi-Galy Original Article Open access 29 April 2023 Pages: 283 - 289
Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161 Miriam J SmithEmma R WoodwardD Gareth Evans OriginalPaper Open access 24 March 2023 Pages: 341 - 344
Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants Amye M. HarriganAmy M. Trottier OriginalPaper 06 March 2023 Pages: 331 - 339
Characteristics of familial pancreatic cancer families with additional colorectal carcinoma Bettina LehmanElvira MatthäiDetlef K. Bartsch Research Open access 31 January 2023 Pages: 323 - 330
Heritable methylation marks associated with prostate cancer risk James G. DowtyChenglong YuMelissa C. Southey Short Communication Open access 28 January 2023 Pages: 313 - 317
2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022 Abstract 23 January 2023 Pages: 237 - 282
Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition Timo A. KumpulaSusanna KoivuluomaKatri Pylkäs Brief Report Open access 19 January 2023 Pages: 291 - 294
Pilot study of the prevalence of autoimmune disorders in Li-Fraumeni syndrome Ixtaccihuatl H. ObregónKelvin C. de AndradeSharon A. Savage Correspondence 11 January 2023 Pages: 319 - 321
Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing Lindsey ByrneCana IngallsMohamed H. Abdel-Rahman Short Communication 14 December 2022 Pages: 307 - 311
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome Ahmed BourasPierre NaiboQing Wang Brief Report 29 November 2022 Pages: 303 - 306
A retrospective cohort study of genetic referral and diagnosis of Lynch syndrome in patients with cutaneous sebaceous lesions Meera KattapuramChristina ShabetKelly B. Cha Original Article 28 November 2022 Pages: 295 - 301
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review Shahram AzizHazel O’SullivanTerri P. McVeigh Review Open access 23 November 2022 Pages: 167 - 175
Laboratory variation in the grading of dysplasia of duodenal adenomas in familial adenomatous polyposis patients E. SoonsP. D. SiersemaF. Atsma Original Article Open access 19 November 2022 Pages: 177 - 186
Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO Trevor L. HoffmanHilary KershbergMonica Alvarado Original Article Open access 20 October 2022 Pages: 225 - 235
A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant Madeline FoleyAnu SharmaSamantha Greenberg Original Article 12 October 2022 Pages: 217 - 224
Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome? Ryan Matthew KahnMuhammad Danyal AhsanMelissa K. Frey Original Article 08 October 2022 Pages: 127 - 133
Determinants of adherence to recommendations on physical activity, red and processed meat intake, and body weight among lynch syndrome patients M HoedjesA VrielingE Kampman Original Article Open access 24 September 2022 Pages: 155 - 166
Identifying the BRCA1 c.-107A > T variant in Dutch patients with a tumor BRCA1 promoter hypermethylation Vincent M. T. de JongRoelof PruntelSabine C. linn Short Communication Open access 16 September 2022 Pages: 151 - 154
A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland Terri Patricia McVeighKarl J. SweeneyAngela J. George Original Article 27 August 2022 Pages: 135 - 149
Disclosure of genetic risk to dating partners among young adults with von Hippel-Lindau disease Elysa BondBeverly YasharMonica Marvin Original Article 19 August 2022 Pages: 203 - 215
Endoscopic management of familial adenomatous polyposis targeting colorectal lesions greater than 5 mm in size: a single-center retrospective study Tatsuro MuranoHiroaki IkematsuTomonori Yano Original Article 05 August 2022 Pages: 83 - 89
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome Yasaman Arjmand AbbassiClaudia Le GuinDietmar R. Lohmann Original Article Open access 03 August 2022 Pages: 193 - 202
Hepatocellular carcinoma and solid pseudopapillary neoplasm of the pancreas complicating familial adenomatous polyposis: two cases and review of the literature Jessica El HalabiLisa LaGuardiaCarol A. Burke Short Communication 28 July 2022 Pages: 77 - 82