Table 2 Mutations in DNA repair pathway genes

From: Morphologic correlates of molecular alterations in extrauterine Müllerian carcinomas

Histotype

HR

BRCA1/2

Non-BRCA HR

MMR

NER

High-grade serous carcinoma (n=138)

45%

25%

10%

ATM (6), BRIP1 (5), FANCC, FANCE, FANCG

6%

1%

 Classic (n=40)

28%

8%

8%

ATM, FANCC, FANCE

5%

3%

 Non-classic (n=40)

70%

45%

10%

ATM (2), BRIP1 (2)

8%

0%

Endometrioid carcinoma (n=12)

25%

0%

25%

ATM (2), RAD21

17%

17%

Clear cell carcinoma (n=10)

30%

20%

10%

ATM

0%

0%

Low-grade serous carcinoma (n=7)

0%

0%

0%

 

0%

0%

Mucinous carcinoma (n=4)

25%

25%

0%

 

0%

0%

  1. Abbreviations: HGSC, high-grade serous carcinoma; HR, homologous recombination; MMR, mismatch repair; NER, nucleotide excision repair.