■ Hereditary cancer syndromes
E N Imyanitov, E S Klligina, A P Sokolenko et al
World J Clin Oncol 2023, vol 14 (2): 40-68
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9993141/
■ Genetic predisposition to colorectal cancer: How many and whic gene to test?
Francesca Rebuzzi, Paola Ulivi, Gianluca Tedaldi
Int J Mol Sci. 2023 Feb; 24(3): 213
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9916931/
■ Genetics, genomics and emerging molecular therapies of pancreatic cancer
Jakub Liu, Magdalena Mroczek, Anna Mach et al
Cancers (Basel) 2023 Feb; 15(3): 77
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9913594/
■ Genetic counselling and testing in pulmonar arterial hypertension: a consensus statement on behalf of the International Consortium for genetic studies in PAH
Christina A. Eichstaedt, Catharina Belge, Wendy K. Chung
Eur Respir J. 2023 Feb; 61(2): 220147
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947314/
■ Practice guidelines for BRCA1/2 tumour testing in ovarian cancer
Daria Grafodatskaya, Darren D O’Rielly, Karine Bedard et al
J Med Genet. 2022 Aug; 59(8): 727–736
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9340048/
■ UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variantes in cancer predisposition genes: RAD51C,_RAD51D_BRIP1 and PAlB2
Helen Hanson, Anjana Kulkarni, Lucy Loong et al
On behalf of Consensus meeting attendees, Fiona Lalloo
J Med Genet. 2023 May; 60(5): 417–429
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10176381/
■ Automated clinical practice guideline recommendations for hereditary cancer risk using chatbots and ontologies: systemm description
Jordon B Ritchie, Lewis J Frey, Jean-Baptiste Lamy, et al
JMIR Cancer. 2022 Jan-Mar; 8(1): e29289
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8845001/
■ The international WAO/EAACI guideline for the management of hereditary angioedema – The 2021 revision and update
Marcus Maurer, Markus Magerl, Stephen Betschel et al
World Allergy Organ J. 2022 Mar; 15(3): 100627
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9023902/
■ Brazilian consensus for diagnosis, management and treatment of hereditary tansthyretin amyloidosis with peripheral neuropahy: second edition
Marcus Vinicius Pinto, Marcondes Cavalcante França, Jr, Marcus Vinicius Magno Gonçalves et al
Arq Neuropsiquiatr. 2023 Mar; 81(3): 308–321
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104762/
■ Clinical guidelnes for diagnosis and management of juvenile polyposis syndrome in children and adults – secondary publication
Takayuki Matsumoto, Junji Umeno, Keisuke Jimbo, et al
J Anus Rectum Colon. 2023; 7(2): 115–125
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129355/
■ Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement
F Brioude, J M Kalish, A Mussa et al
Nat Rev Endocrinol 2018, vol 14 (4): 229-249
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022848/
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Maio 2023