Publications:

Can chimerism explain breast/ovarian cancers in BRCA non-carriers from BRCA-positive families?

Plos One

Mitchell, Rachel R; Buckingham, Lela L; Cobleigh, Melody M; Rotmensch, Jacob J; Burgess, Kelly K; Usha, Lydia L

Publication Date: 2018

Variant appearance in text: ATM: 496+4T>C

PubMed Link: 29659587

Variant Present in the following documents:

• Main text

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Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics

Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF

Publication Date: 2017-11

Variant appearance in text: ATM: 496+4T>C; rs587781375

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp005.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ATM: 496+4T>C

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page