Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21
Variant appearance in text: BRCA1: 2755C>T; Pro919Ser
Association of Single-Nucleotide Polymorphisms in Monoubiquitinated FANCD2-DNA Damage Repair Pathway Genes With Breast Cancer in the Chinese Population.
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Four common polymorphisms of BRIP1 (rs2048718, rs4988344, rs4986764, and rs6504074) and cancer risk: evidence from 13,716 cancer patients and 15,590 cancer-free controls.
Aging
Liu, Di D; Zheng, Yi Y; Wang, Meng M; Deng, Yujiao Y; Lin, Shuai S; Zhou, Linghui L; Yang, Pengtao P; Dai, Cong C; Xu, Peng P; Hao, Qian Q; Song, Dingli D; Kang, Huafeng H; Dai, Zhijun Z
Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.
Breast Cancer Research : Bcr
Kuusisto, Kirsi M KM; Bebel, Aleksandra A; Vihinen, Mauno M; Schleutker, Johanna J; Sallinen, Satu-Leena SL
Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.
Radiation Research
Sigurdson, Alice J AJ; Land, Charles E CE; Bhatti, Parveen P; Pineda, Marbin M; Brenner, Alina A; Carr, Zhanat Z; Gusev, Boris I BI; Zhumadilov, Zhaxibay Z; Simon, Steven L SL; Bouville, Andre A; Rutter, Joni L JL; Ron, Elaine E; Struewing, Jeffery P JP
A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.
British Journal Of Cancer
Kote-Jarai, Z Z; Jugurnauth, S S; Mulholland, S S; Leongamornlert, D A DA; Guy, M M; Edwards, S S; Tymrakiewitcz, M M; O'Brien, L L; Hall, A A; Wilkinson, R R; Al Olama, A A AA; Morrison, J J; Muir, K K; Neal, D D; Donovan, J J; Hamdy, F F; Easton, D F DF; Eeles, R R; , ; ,
Publication Date: 2009-01-27
Variant appearance in text: BRCA1: 2755C>T; Pro919Ser
BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study.
Bmc Cancer
Frank, Bernd B; Hemminki, Kari K; Meindl, Alfons A; Wappenschmidt, Barbara B; Sutter, Christian C; Kiechle, Marion M; Bugert, Peter P; Schmutzler, Rita K RK; Bartram, Claus R CR; Burwinkel, Barbara B
Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.
Bmc Cancer
Sigurdson, Alice J AJ; Hauptmann, Michael M; Chatterjee, Nilanjan N; Alexander, Bruce H BH; Doody, Michele Morin MM; Rutter, Joni L JL; Struewing, Jeffery P JP