Reclassification of an uncertain germline variant as likely pathogenic: a family study

Mcgarrity TJ, Amos CI, Baker MJ et al (2001) Peutz-Jeghers syndrome

Wagner A, Aretz S, Auranen A et al (2021) The management of Peutz–Jeghers syndrome: European hereditary tumour group (EHTG) guideline. J Clin Med. https://doi.org/10.3390/jcm10030473

Article  PubMed  PubMed Central  Google Scholar 

Wu B, Da, Wang YJ, Fan LL et al (2020) Clinical and genetic analyses of 38 chinese patients with peutz-jeghers syndrome. Biomed Res Int 2020:. https://doi.org/10.1155/2020/9159315

Daniell J, Plazzer JP, Perera A, Macrae F (2018) An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review. Fam Cancer 17:421–427

Article  CAS  PubMed  Google Scholar 

Butel-Simoes GI, Spigelman AD, Scott RJ, Vilain RE (2019) Low-level parental mosaicism in an apparent de Novo case of Peutz–Jeghers syndrome. Fam Cancer 18:109–112. https://doi.org/10.1007/s10689-018-0093-3

Article  CAS  PubMed  Google Scholar 

Jelsig AM, Bertelsen B, Forss I, Karstensen JG (2021) Two cases of somatic STK11 mosaicism in Danish patients with Peutz–Jeghers syndrome. Fam Cancer 20:55–59. https://doi.org/10.1007/s10689-020-00191-4

Article  PubMed  Google Scholar 

Lucci-Cordisco E, Amenta S, Panfili A et al (2022) Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels? Eur J Med Genet 65:104400. https://doi.org/10.1016/j.ejmg.2021.104400

Article  CAS  PubMed  Google Scholar 

Kwong A, Ho CYS, Shin VY et al (2022) How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer? BMC Med Genom 15:122. https://doi.org/10.1186/s12920-022-01270-4

Article  CAS  Google Scholar 

Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Sci 17:405–424. https://doi.org/10.1038/gim.2015.30

Article  Google Scholar 

Boland CR, Idos GE, Durno C et al (2022) Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. multi-society task force on colorectal cancer. Gastrointest Endosc 95:1025–1047. https://doi.org/10.1016/j.gie.2022.02.044

Article  PubMed  Google Scholar 

Carballal S, Balaguer F, Bujanda L et al (2024) Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium. Gastroenterol Hepatol 47:293–318. https://doi.org/10.1016/j.gastrohep.2023.06.004

Article  PubMed  Google Scholar 

McDevitt T, Durkie M, Arnold N et al (2024) EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer. Eur J Hum Genet 32:479–488

Article  PubMed  PubMed Central  Google Scholar 

Daly MB, Pal T, Maxwell KN et al (2023) Genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 2.2024 featured updates to the NCCN guidelines. JNCCN J Natl Compr Cancer Netw 21:1001–1010. https://doi.org/10.6004/jnccn.2023.0051

Article  CAS  Google Scholar 

Gourevitch RA, Rose S, Crockett SD et al (2018) Variation in pathologist classification of colorectal adenomas and serrated polyps. Official J Am Coll Gastroenterol ACG 113(3):431–439. https://doi.org/10.1038/ajg.2017.496

Gilad O, Rosner G, Fliss-Isakov N et al (2019) Clinical and histologic overlap and distinction among various hamartomatous polyposis syndromes. Clin Transl Gastroenterol 10(5):1–9. https://doi.org/10.14309/ctg.0000000000000035

Bonache S, Esteban I, Moles-Fernández A et al (2018) Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. J Cancer Res Clin Oncol 144:2495–2513. https://doi.org/10.1007/s00432-018-2763-9

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhao J, Guan Y, McBride CM (2022) A systematic review of theory-informed strategies used in interventions fostering family genetic risk communication. Patient Educ Couns 105:1953–1962. https://doi.org/10.1016/j.pec.2022.03.009

Article  PubMed  PubMed Central  Google Scholar 

Baroutsou V, Underhill-Blazey ML, Appenzeller-Herzog C, Katapodi MC (2021) Interventions facilitating family communication of genetic testing results and cascade screening in hereditary Breast/Ovarian cancer or Lynch syndrome: a systematic review and meta-analysis. Cancers (Basel). https://doi.org/10.3390/cancers13040925

Article  PubMed  Google Scholar 

Makhnoon S, Shirts BH, Bowen DJ (2019) Patients’ perspectives of variants of uncertain significance and strategies for uncertainty management. J Genet Couns 28:313–325. https://doi.org/10.1002/jgc4.1075

Article  PubMed  Google Scholar 

Clift K, Macklin S, Halverson C et al (2020) Patients’ views on variants of uncertain significance across indications. J Community Genet 11:139–145. https://doi.org/10.1007/s12687-019-00434-7

Article  PubMed  Google Scholar 

Resta RG (2019) What have we been trying to do and have we been any good at it? A history of measuring the success of genetic counseling. Eur J Med Genet 62:300–307. https://doi.org/10.1016/j.ejmg.2018.11.003

Article  PubMed  Google Scholar 

Comments (0)

No login
gif