5’UTR gene regions in germline DNA sequencing panels: lessons from the analysis of breast and ovarian cancer patients of Tatar and Bashkir ethnic origin Anna P. SokolenkoAigul R. VeninaEvgeny N. Imyanitov Original Article 26 May 2025 Article: 50
Upper GI polyposis and cancer in FAP: diagnosis, surveillance and treatment Arthur S. AelvoetYusaku ShimamotoGautam Mankaney Review 26 May 2025 Article: 49
Detection rates of multigene panel and exome testing in patients with previous negative BRCA1/2 results Jewel L. WassonTrinity N. SpraguePhuong L. Mai Original Article 26 May 2025 Article: 48
Screening of biobank SNP-array genotyping data to detect Lynch syndrome predisposing MLH1 copy number variants Kimmo Ala-KuljuOlli CarpénMinja Pehrsson Brief Report Open access 26 May 2025 Article: 47
Pancreatic adenocarcinoma in a patient with a germline RB1 pathogenic variant Riya PatelChristos FountzilasKenan Onel Brief Report 26 May 2025 Article: 46
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
