Advancing care for Lynch syndrome patients in China: challenges and opportunities Shirley V. HodgsonHans F. A. Vasen Editorial 12 May 2025 Article: 45
Colonoscopy findings in CDH1 carriers from a multicenter international study Arjun ChatterjeeRobert HüneburgJacob Nattermann Original Article Open access 05 May 2025 Article: 44
Evaluation of BRCA1/2 testing rates in epithelial ovarian cancer patients: lessons learned from real-world clinical data Lieke LanjouwClaire J. H. KramerJoost Bart Original Article Open access 05 May 2025 Article: 43
A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed? Morghan C. LucasThomas KeßlerElke Holinski-Feder Review 03 May 2025 Article: 42
The clinicopathological features of breast cancer in Peutz-Jeghers syndrome: results from an international survey Elizabeth LoehrerAnja WagnerAndrew Latchford Original Article Open access 03 May 2025 Article: 41
Intestinal transplantation in Familial Adenomatous Polyposis Emilio CanovaiSarah UpponiIrum Amin Review Open access 03 May 2025 Article: 40
A review of APC somatic mosaicism and specific APC variants - I1307K and promotor variants Shira ShurAnna K. SommerLior H. Katz Review Open access 16 April 2025 Article: 39
Genetics, genomics and clinical features of adenomatous polyposis Jihoon E. JooJulen Viana-ErrastiLaura Valle Review Open access 16 April 2025 Article: 38
One hundred years of the St Mark’s hospital polyposis registry Vicky CuthillAndy LatchfordSue Clark Review Open access 12 April 2025 Article: 37
Causes of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic MLH1 promoter methylation Jihoon E. JooKhalid MahmoodDaniel D. Buchanan Brief Report Open access 10 April 2025 Article: 36
Guidelines for Familial Adenomatous Polyposis (FAP): challenges in defining clinical management for a rare disease Benjamin ZareKevin J. Monahan Review Open access 07 April 2025 Article: 35
The patterns and spectrum of BRCA1 and BRCA2 mutations in Iranian breast and ovarian cancer patients Shayan ForghaniHamid Reza MirzaeeSanaz Tabarestani Original Article 30 March 2025 Article: 34
The European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS): benefits for patients, families, and health care providers Manon EngelsKatarzyna UrbanczykNicoline Hoogerbrugge Brief Report Open access 30 March 2025 Article: 33
Endometrial thickness among BRCA mutation carriers undergoing prophylactic oophorectomy Michelle JacobsonAdrianna KlejnotowskaJoanne Kotsopoulos Original Article 25 March 2025 Article: 32
Azacitidine and venetoclax for the treatment of AML arising from an underlying telomere biology disorder Arjun PandeyTalia MancusoJames A. Kennedy Correspondence 22 March 2025 Article: 31
Correction: The genetic landscape of Lynch syndrome in the Israeli population Aasem Abu ShtayaSofia Naftaly NathanYael Goldberg Correction Open access 21 March 2025 Article: 30
The current status of care for families with Lynch syndrome in China Baoshuai LiuShouyu PanXian Hua Gao Review 20 March 2025 Article: 29
Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk Ane J. Schei-AndersenVera M. WitjesNicoline Hoogerbrugge Brief Report Open access 18 March 2025 Article: 28
Optimizing MRI sequences and apparent diffusion coefficient parameters for small pancreatic ductal adenocarcinoma detection Naoko Mori Letter To the Editor Open access 07 March 2025 Article: 27
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting Avani VardeTerri McVeighKevin J. Monahan Brief Report Open access 06 March 2025 Article: 26
Healthcare provider-mediated cascade testing of Lynch syndrome to at-risk family members: an interview study Serene OngZi Yang ChuaTamra Lysaght Original Article 26 February 2025 Article: 25
A novel likely pathogenic germline variant in CDKN1B in a patient with MEN4 and medullary thyroid cancer Fernández MercèQueralt AslaAnna Aulinas Brief Report 26 February 2025 Article: 24
CHEK2-related breast cancer: real-world challenges Luiza N. WeisBrittany L. BychkovskyRenata L. Sandoval Original Article 18 February 2025 Article: 23
New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients Julie AmiotLara GubeljakClaude Houdayer Original Article 07 February 2025 Article: 22
Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing Morgane BoedecCamille AucouturierAhmed Bouras Brief Report 07 February 2025 Article: 21
Myelodysplastic syndrome with dual germline RUNX1 and DDX41 variants: a rare genetic predisposition case Virginia BoveMaria Noel SpangenbergSofía Grille Brief Report 31 January 2025 Article: 20
Thirty-year compliance with a surveillance program for patients with familial adenomatous polyposis Boris Cleret de LangavantJéremie H. LefèvreYann Parc Original Article 31 January 2025 Article: 19
Correction: Outcomes of retesting in patients with previously uninformative cancer genetics evaluations Shenin A. SanobaErika S. KoeppeElena M. Stoffel Correction 24 January 2025 Article: 17
Case review of perivascular epithelioid cell tumor occurring in patients with Li-Fraumeni syndrome Natsuno AbeFumito YamazakiHiroyuki Shimada Brief Report 24 January 2025 Article: 18
Correction: Benign tumors and non-melanoma skin cancers in patients with fanconi anemia Aura EnacheBia SajjadEdward W. Cowen Correction Open access 18 January 2025 Article: 16
Progress report on multiple endocrine neoplasia type 1 Reut HalperinAmit Tirosh Review Open access 18 January 2025 Article: 15
The challenge of preventing gastric cancer in patients under surveillance for familial adenomatous polyposis Hicham BouchibaArthur S. AelvoetEvelien Dekker Brief Report Open access 08 January 2025 Article: 14
Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort Harsh ShethJyoti SadhwaniD. Timothy Bishop Original Paper 19 December 2024 Article: 13
Bilateral familial retinoblastoma diagnosed via optical coherence tomography following a normal funduscopic exam Mitchell T. AllphinAparna Ramasubramanian Brief Report 16 December 2024 Article: 12
Recurrent paraneoplastic nephrotic syndrome; insights from a Lynch syndrome patient with multiple malignancies Myrthe A. de JongMarije SlingerlandAlexandra M. J. Langers Short Communication 04 December 2024 Article: 11
Sarcomas arising in MEN1 patients: demonstrating LOH of the MEN1 locus and loss of menin expression Rachel S. van LeeuwaardeThorvardur R. HalfdanarsonLodewijk A. A. Brosens Original Article 28 November 2024 Article: 10
Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework Liliana VarescoFrancesco Di TanoLinda Battistuzzi Original Article 20 November 2024 Article: 9
A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic Rida HaiderLauren Desrosiers-BattuSharon E. Plon Original Article 20 November 2024 Article: 8
Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service Francesca FiorentinoGiovanni InnellaSergio Tempesta Brief Report 20 November 2024 Article: 7
The genetic landscape of Lynch syndrome in the Israeli population Aasem Abu ShtayaSofia Naftaly NathanYael Goldberg Original Article Open access 15 November 2024 Article: 6
Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis Francisco Cezar Aquino de MoraesLucca Dal MoroRommel Mario Rodríguez Burbano Original Article 15 November 2024 Article: 5
BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants Aastha VatsyayanR. I. AnuVinod Scaria Brief Report 15 November 2024 Article: 4
Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome Heidi Hesselø BrinchAnna ByrjalsenAnne Marie Jelsig Original Article Open access 15 November 2024 Article: 3
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland Mechelle LoughreyLauren V. O’ConnellRory Kennelly Original Article 15 November 2024 Article: 2
Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature Maria Laura GonzalezCarolina VazquezMarcelo M. Serra Original Article 15 November 2024 Article: 1
MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence Jinru ShiaFrancisco Sanchez-VegaZsofia K. Stadler Original Article 10 October 2024 Pages: 569 - 577
Use and feasibility of a Lynch Syndrome predictive model for inherited colorectal and endometrial cancer in a low-middle income country Monica A. BissmeyerAngel VelardeAbigail S. Zamorano Original Article 24 September 2024 Pages: 563 - 567
A content analysis of parents’ reflections on pathogenic and uncertain pediatric oncology germline sequencing results Katianne M. Howard SharpMary Egan ClarkKim E. Nichols Original Article 20 September 2024 Pages: 551 - 561
Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome Claire FreyconLaura PalmaCatherine Goudie Brief Report 11 September 2024 Pages: 665 - 669
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1 Lady Katherine Mejia PerezMargaret O’MalleyCarol A. Burke Research Article Open access 11 September 2024 Pages: 617 - 626
