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Table 1 Medical history of the included participants

From: Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis

Participant

Sex

Age at time of study

First cancer location (age)

Second cancer location (age)

Third cancer location (age)

Fourth cancer location (age)

Cancer in first degree relatives?

Chemotherapy? /Radiation therapy?

Anti-oestrogen treatment?

Smoking regularly > 5 years

Genetic tests performed before inclusion in the study (normal results unless stated otherwise) (c)

A

W

63

Adenocarcinoma colon (30, 55)

Adenocarcinoma ovarium (47)

Adenocarcinoma endometrium (47)

CLL (55)

Yes

NA/NA

NA

NA

MLH1, MSH2, MSH6, EPCAM, PMS2.

Tumour tissue BRAF neg. IHC MMR: loss of MLH1 and PMS2.

B

W

46

Teratoma ovaries (30)

Rectum (33)

Breast (40)

NA

No

Yes/Yes

Yes

NA

MLH1, MSH2, MSH6, EPCAM, PMS2, BRCA1, BRCA2

C

W

75 (a)

Breast (60)

Colon (62)

Lung (75)

NA

Yes

Yes/Yes

No

Yes

BRCA1, BRCA2, TP53. IHC MMR normal.

D

W

66 (a)

Malignant melanoma (59)

Breast (63), tubular

Endometrium (64)

Pancreas (65)

Yes

Yes/Yes

Yes

No

CDKN2A, BRCA1, BRCA2, TP53, PALB2, CHEK2, ATM, CDK4

E

W

38

Adrenal adenoma (27)

Parathyroid hyperplasia (27)

Pituitary adenoma - prolactin and GH producing (28)

Multiple neuroendocrine tumours in pancreas (30)

Yes

No/No

No

No

Endocrine tumour gene panel (d)

F

W

75

Breast (59), multifocal ductal

Melanoma in situ (62, 70)

Endometrium (64)

Basalioma (76) (b)

Yes

No/No

No

Yes

PTEN. IHC MMR normal.

G

M

74

Adenocarcinoma lung, 3 primaries (54, 69, 70)

Prostate (56), Gleason 7

Rectum (57)

Carcinoid caecum (57)

No

No/Yes

Yes

No

Karyotype

H

W

76

Cervix (41)

Breast (59, 69), lobular

CLL (63, 68)

Adrenal cortical carcinoma (67)

Yes

No/Yes

Yes

No

BRCA1, BRCA2, CHEK2, TP53, PTEN, STK11, CDH1. CGH-array

I

M

76

Prostate (57), Gleason 7

GIST oesophagus (68)

Colon (68)

NA

Yes

Yes/Yes

No

No

 

J

W

74

Endometrium (41)

Synovial sarcoma (54)

Breast (61), ductal

NA

Yes

No/Yes

No

Yes

BRCA1, BRCA2, CHEK2, TP53, PTEN, STK11, CDH1

  1. (a) deceased at the time of study
  2. (b) diagnosed after inclusion
  3. (c) genetic testing by either Sanger sequencing, Ion Torrent massive parallel sequencing or WES, with deletion/duplication testing using multiple ligation-dependent probe amplification or targeted CGH-array
  4. (d) WES, in silico gene panel including: AIP, AKT1, AP2S1, ARMC5, CACNA1A, CACNA1H, CASR, CDC73, CDH23, CDKN1A, CDKN1B, CDKN2B, CDKN2C, CLCN2, CYP11B1, CYP11B2, FH, GNA11, GNAS, GPR101, KCNJ5, KIT, KLLN, MAX, MEN1, MET, MLH1, MSH2, MSH6, NF1, PDE11A, PDE8B, PDGFRA, PIK3CA, PMS2, PRKAR1A, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, TSC1, TSC2, USP8, VHL
  5. W Woman, M Man, CLL Chronic lymphocytic leukaemia, IHC MMR Immunohistochemistry of mismatch-repair genes, GIST Gastrointestinal stroma tumour, NA No information available
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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287