PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Wednesday, November 23, 2016

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS



open access:
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS - Journal of Medical Genetics
 Methods We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant.
  No evidence of association with ovarian cancer was found for any of these variants.
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