Daniel R. Barnes; Jonathan P. Tyrer; Joe Dennis; Goska Leslie; Manjeet K. Bolla; Michael Lush; Amber M. Aeilts; Kristiina Aittomäki; Nadine Andrieu; Irene L. Andrulis; Hoda Anton-Culver; Adalgeir Arason; Banu K. Arun; Judith Balmaña; Elisa V. Bandera; Rosa B. Barkardottir; Lieke P. V. Berger; Amy Berrington de Gonzalez; Pascaline Berthet; Katarzyna Białkowska; Line Bjørge; Amie M. Blanco; Marinus J. Blok; Kristie A. Bobolis; Natalia V. Bogdanova; James D. Brenton; Henriett Butz; Saundra S. Buys; Maria A. Caligo; Ian Campbell; Carmen Castillo; Kathleen B. M. Claes; Sarah V. Colonna; Linda S. Cook; Mary B. Daly; Agnieszka Dansonka-Mieszkowska; Miguel de la Hoya; Anna deFazio; Allison DePersia; Yuan Chun Ding; Jennifer A. Doherty; Susan M. Domchek; Thilo Dörk; Zakaria Einbeigi; Christoph Engel; D. Gareth Evans; Lenka Foretova; Renée T. Fortner; Florentia Fostira; Maria Cristina Foti; Eitan Friedman; Megan N. Frone; Patricia A. Ganz; Aleksandra Gentry-Maharaj; Gord Glendon; Andrew K. Godwin; Anna González-Neira; Mark H. Greene; Jacek Gronwald; Aliana Guerrieri-Gonzaga; Ute Hamann; Thomas V. O. Hansen; Holly R. Harris; Jan Hauke; Florian Heitz; Frans B. L. Hogervorst; Maartje J. Hooning; John L. Hopper; Chad D. Huff; David G. Huntsman; Evgeny N. Imyanitov; Louise Izatt; Anna Jakubowska; Paul A. James; Ramunas Janavicius; Esther M. John; Siddhartha Kar; Beth Y. Karlan; Catherine J. Kennedy; Lambertus A.L.M. Kiemeney; Irene Konstantopoulou; Jolanta Kupryjanczyk; Yael Laitman; Ofer Lavie; Kate Lawrenson; Jenny Lester; Fabienne Lesueur; Carlos Lopez-Pleguezuelos; Phuong L. Mai; Siranoush Manoukian; Taymaa May; Iain A. McNeish; Usha Menon; Roger L. Milne; Francesmary Modugno; Jennifer M. Mongiovi; Marco Montagna; Kirsten B. Moysich; Susan L. Neuhausen; Finn C. Nielsen; Catherine Noguès; Edit Oláh; Olufunmilayo I. Olopade; Ana Osorio; Laura Papi; Harsh Pathak; Celeste L. Pearce; Inge S. Pedersen; Ana Peixoto; Tanja Pejovic; Pei-Chen Peng; Beth N. Peshkin; Paolo Peterlongo; C. Bethan Powell; Darya Prokofyeva; Miquel Angel Pujana; Paolo Radice; Muhammad U. Rashid; Gad Rennert; George Richenberg; Dale P. Sandler; Naoko Sasamoto; Veronica W. Setiawan; Priyanka Sharma; Weiva Sieh; Christian F. Singer; Katie Snape; Anna P. Sokolenko; Penny Soucy; Melissa C. Southey; Dominique Stoppa-Lyonnet; Rebecca Sutphen; Christian Sutter; Yen Y. Tan; Manuel R. Teixeira; Kathryn L. Terry; Liv Cecilie V. Thomsen; Marc Tischkowitz; Amanda E. Toland; Toon Van Gorp; Ana Vega; Digna R. Velez Edwards; Penelope M. Webb; Jeffrey N. Weitzel; Nicolas Wentzensen; Alice S. Whittemore; Stacey J. Winham; Anna H. Wu; Siddhartha Yadav; Yao Yu; Argyrios Ziogas; Andrew Berchuck; Fergus J. Couch; Ellen L. Goode; Marc T. Goodman; Alvaro N. Monteiro; Kenneth Offit; Susan J. Ramus; Harvey A. Risch; Joellen M. Schildkraut; Mads Thomassen; Jacques Simard; Douglas F. Easton; Michelle R. Jones; Georgia Chenevix-Trench; Simon A. Gayther; Antonis C. Antoniou; Paul D. P. Pharoah

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

BRCA1-、BRCA2-和PALB2相关的范可尼贫血：扩展疾病表型特征并预测杂合子乳腺癌风险的潜力

The American Journal of Human Genetics

IF0

2025-10-300

PRE

Sharon E. Johnatty; Emma Tudini; Michael T. Parsons; Kyriaki Michailidou; Maria Zanti; Daffodil M. Canson; Aimee L. Davidson; Tamar Berger; Rasim Ozgur Rosti; Christian P. Kratz; Reinhard Kalb; Lisa J. McReynolds; Neelam Giri; Marcy E. Richardson; Tina Pesaran; Jordi Surrallés; Roser Pujol; Babu Rao Vundinti; Merin George; Kara N. Maxwell; Kate Nathanson; Susan Domchek; Moisés Ó. Fiesco-Roa; Sara Frias; Benilde García-de-Teresa; Marjolijn Jongmans; Seema Lalani; Merel Maiburg; Katrina Prescott; Rachel Robinson; Sulekha Rajagopalan; Lot Snijders Blok; Suzanna E.L. Temple; Kathy Tucker; Arleen D. Auerbach; Maria I. Cancio; Jennifer A. Kennedy; Margaret L. MacMillan; Rebecca Tryon; John E. Wagner; Michael Walsh; Nicholas J. Boddicker; Chunling Hu; Jeffrey N. Weitzel; Alexander J.M. Dingemans; Johanna Hadler; Nitsan Rotenberg; Lobna Ramadane-Morchadi; Miguel de la Hoya; Paul James; Thomas Van Overeem Hansen; Maaike P.G. Vreeswijk; Logan C. Walker; Shyam K. Sharan; Douglas F. Easton; Fergus Couch; Agata Smogorzewska; Adam Nelson; Joanne Ngeow; Marc Tischkowitz; Encarnacion Gomez-Garcia; Amanda B. Spurdle

Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer

大规模元分析和精确功能测定识别出FANCM区域，其中致病性体细胞突变（PTVs）对ER阴性和三阴性乳腺癌产生不同的风险。

The Breast

IF0

2025-10-300

OAAI

Amandine Billaud; Gisella Figlioli; Clémence Mooser; Irene Casamassima; Violette Azzoni; Jahnavi Srivatsa; Mara Colombo; Laura Caleca; Thomas U. Ahearn; Irene L. Andrulis; Antonis C. Antoniou; Matthias W. Beckmann; Sabine Behrens; Marina Bermisheva; Natalia V. Bogdanova; Manjeet K. Bolla; Bernardo Bonanni; Thomas Brüning; Nicola J. Camp; Archie Campbell; Jose E. Castelao; Melissa H. Cessna; Jenny Chang-Claude; Kamila Czene; Joe Dennis; Peter Devilee; Thilo Dörk; Alison M. Dunning; Mikael Eriksson; D.Gareth Evans; Peter A. Fasching; Jonine D. Figueroa; Marike Gabrielson; Manuela Gago-Dominguez; Anna González-Neira; Pascal Guénel; Andreas Hadjisavvas; Eric Hahnen; Ute Hamann; Peter Hillemanns; Antoinette Hollestelle; Maartje J. Hooning; Reiner Hoppe; Anthony Howell; Anna Jakubowska; Vessela N. Kristensen; Jan Lubiński; Michael Lush; Siranoush Manoukian; Dimitrios Mavroudis; Roger L. Milne; Anna Marie Mulligan; William G. Newman; Nadia Obi; Mihalis I. Panayiotidis; Guillermo Pita; Muhammad U. Rashid; Valerie Rhenius; Emmanouil Saloustros; Elinor J. Sawyer; Rita K. Schmutzler; Mitul Shah; Melissa C. Southey; Amanda B. Spurdle; Ian Tomlinson; Thérèse Truong; Qin Wang; Camilla Wendt; Paul L. Auer; Nicholas J. Boddicker; Clara Bodelon; Elizabeth S. Burnside; Fei Chen; Fergus J. Couch; Susan M. Domchek; Heather A. Eliassen; Christopher Haiman; James M. Hodge; Chunling Hu; Hongyan Huang; Sara Lindstrom; Maria Elena Martinez; Katherine L. Nathanson; Susan L. Neuhausen; Katie M. O’Brien; Janet E. Olson; Julie R. Palmer; Alpa V. Patel; Kathryn J. Ruddy; Dale P. Sandler; Lauren R. Teras; Clarice R. Weinberg; Jeffrey N. Weitzel; Stacey J. Winham; Siddhartha Yadav; Song Yao; Gary Zirpoli; Marketa Janatova; Zdenek Kleibl; Petra Kleiblova; Jana Soukupova; Qihong Zhao; Lisa Devereux; Paul A. James; Ian G. Campbell; Tu Nguyen-Dumont; James G. Dowty; Nadine Andrieu; Fabienne Lesueur; Dominique Stoppa-Lyonnet; Miguel de la Hoya; Paolo Radice; Claus Storgaard Sørensen; Paolo Peterlongo

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

一种基于贝叶斯定量分析的基因特异性变异分类方法：更新的专家小组建议改进了TP53生殖细胞变异在Li-Fraumeni综合征中的分类

Genome Medicine

IF11.2

2025-10-240

OAAI

Cristina Fortuno; Megan N. Frone; Jessica Mester; Miguel de la Hoya; Phuong L. Mai; Tina Pesaran; Maria Isabel Achatz; Rebecca Bassett; Carolina Bustamante; Stephanie Crowley; Kelvin Cesar de Andrade; D. Gareth Evans; Bingjian Feng; Laura Fuqua; Maria Isabel Harrell; Jessica N. Hatton; Robert Huether; Chimene Kesserwan; Kristy Lee; Suzanne P. MacFarland; Jamie L. Maciaszek; Kara Maxwell; Kelly McGoldrick; Maureen Murphy; Bita Nehoray; Judith Penkert; Emilia Modolo Pinto; Sharon E. Plon; Alison Schwartz-Levine; Ashley S. Thompson; Wenyi Wang; Gerard P. Zambetti; Kristin Zelley; Paul A. James; Sharon A. Savage; Christian P. Kratz; Amanda B. Spurdle

Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

RAD51C、RAD51D和BRIP1基因杂合性胚系致病性变异携带者的管理：美国医学遗传学与基因组学学院（ACMG）的临床实践资源

Genetics in Medicine

IF6.2

2025-10-070

PRE

Standardization, Education, and Resourcing: The Way Forward for Implementing Polygenic Risk Scores in Hereditary Breast and Ovarian Cancer

标准化、教育和资源配置：在遗传性乳腺癌和卵巢癌中实施多基因风险评分的途径

cts clinical and translational science

IF0

2025-08-200

OAAI