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
CDH1 mutations recurrence and global clustering in genetically tested families with hereditary diffuse gastric cancer syndrome: results from a systematic study Giovanni CorsoValentina TagliaferriFrancesca Magnoni Short Communication 27 July 2022 Pages: 187 - 192
Remote vs in-person BRCA1/2 non-carriers test disclosure: patients’ choice during Covid-19 pandemic restriction Silvia CostanzoSimona De SummaAngelo Paradiso Original Article 22 July 2022 Pages: 43 - 48
Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes Sietse M. AukemaSelina GlaserConstance T. R. M. Stumpel Original Article Open access 19 July 2022 Pages: 103 - 118
Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan Muhammad Usman RashidNoor MuhammadUte Hamann Original Article 08 July 2022 Pages: 31 - 41
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome David Humberto Marmolejo CastañedaMara Cruellas LapeñaJudith Balmaña Gelpi Original Article 04 July 2022 Pages: 99 - 102
